value: Rhophilin

value: Rhp

value: Belongs to the RHPN family

description: PDZ

description: Disordered

type: Coiled coil

description: Low complexity

authors:
Edwards K.A.
Kaneshiro K.
Yamamoto D.

title: Mutations in the Drosophila Rhophilin gene at 13E.

authors:
Stapleton M.
Carlson J.
Chavez C.
Frise E.
George R.
Pacleb J.
Park S.
Wan K.
Yu C.
Rubin G.M.
Celniker S.

database: EMBL

value: mRNA

database: RefSeq

database: AlphaFoldDB

database: SMR

database: IntAct

database: STRING

database: PaxDb

database: PeptideAtlas

database: DNASU

database: GeneID

database: KEGG

value: d. melanogaster

database: CTD

key: GeneName

key: ToxonomicScope

value: Eukaryota

value: RHO GTPases Activate Rhotekin and Rhophilins

value: Expressed in adult Malpighian tubule bar-shaped cell of initial segment in Malpighian tubule and 72 other cell types or tissues

value: P:negative regulation of stress fiber assembly


entryType: UniProtKB reviewed (Swiss-Prot)

scientificName: Homo sapiens

commonName: Human

lineage: Eukaryota Metazoa Chordata Craniata Vertebrata Euteleostomi Mammalia Eutheria Euarchontoglires Primates Haplorrhini Catarrhini Hominidae Homo

proteinExistence: 1: Evidence at protein level

value: Interleukin-1 receptor-associated kinase 3

value: IL-1 receptor-associated kinase M

value: IRAK-M

value: Inactive IL-1 receptor-associated kinase 3

source: EMBL

source: UniProtKB

source: PubMed

value: Putative inactive protein kinase which regulates signaling downstream of immune receptors including IL1R and Toll-like receptors (PubMed:10383454, PubMed:29686383). Inhibits dissociation of IRAK1 and IRAK4 from the Toll-like receptor signaling complex by either inhibiting the phosphorylation of IRAK1 and IRAK4 or stabilizing the receptor complex (By similarity). Upon IL33-induced lung inflammation, positively regulates expression of IL6, CSF3, CXCL2 and CCL5 mRNAs in dendritic cells (PubMed:29686383)

commentType: FUNCTION

value: Monomer (PubMed:33238146). Homodimer; disulfide-linked (PubMed:33238146). May interact with IRAK4 (when phosphorylated) (PubMed:33238146). Interacts (when phosphorylated at Ser-110) with PIN1 (via WW domain) in response to IL33-mediated (but not TLR4 ligand LPS) dendritic cell stimulation (PubMed:29686383)

commentType: SUBUNIT

commentType: INTERACTION

commentType: SUBCELLULAR LOCATION

value: In dendritic cells, translocates into the nucleus upon IL33 stimulation

value: Cytoplasm

value: Nucleus

commentType: ALTERNATIVE PRODUCTS

isoformSequenceStatus: Displayed

isoformSequenceStatus: Described

value: Expressed in eosinophils, dendritic cells and/or monocytes (at protein level) (PubMed:29686383). Expressed predominantly in peripheral blood lymphocytes (PubMed:10383454)

commentType: TISSUE SPECIFICITY

value: The nucleotide binding domain binds ATP with low affinity

commentType: DOMAIN

commentType: DISEASE

diseaseId: Asthma-related traits 5

description: Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis.

database: MIM

value: Disease susceptibility is associated with variants affecting the gene represented in this entry

value: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Pelle subfamily

commentType: SIMILARITY

value: Ser-293 is present instead of the conserved Asp which is expected to be an active site residue. Low level autophosphorylation activity has been reported in PubMed:10383454, while other authors describe this as an inactive kinase

commentType: CAUTION

type: Chain

modifier: EXACT

description: Interleukin-1 receptor-associated kinase 3

type: Domain

description: Death

source: PROSITE-ProRule

description: Protein kinase

type: Region

description: Disordered

source: SAM

type: Binding site

database: ChEBI

source: Reference

source: PDB

type: Site

description: Cis/trans isomerization of proline peptide bond; by PIN1; dependent on Ser-110 phosphorylation

type: Modified residue

description: Phosphoserine; by IRAK1

description: Phosphoserine

type: Disulfide bond

description: Interchain (with C-287); in linked form

description: Interchain (with C-202); in linked form

type: Alternative sequence

description: in isoform 2

type: Natural variant

description: probable risk factor for ASRT5; dbSNP:rs536546109

description: in dbSNP:rs35239505

description: in dbSNP:rs34443407

description: probable risk factor for ASRT5; abolishes phosphorylation of Ser-110; abolishes interaction with PIN1; no effect on cytoplasmic localization; reduces protein stability; dbSNP:rs373806603

description: probable risk factor for ASRT5; dbSNP:rs138559915

description: in dbSNP:rs1152888

description: in dbSNP:rs34682166

description: in dbSNP:rs35823766

description: in dbSNP:rs11465972

description: in dbSNP:rs35574245

description: in dbSNP:rs34272472

description: in dbSNP:rs35737689

description: probable risk factor for ASRT5; dbSNP:rs146120640

description: probable risk factor for ASRT5; dbSNP:rs140671957

description: in dbSNP:rs35756811

description: Abolishes phosphorylation. Abolishes interaction with PIN1. Reduces protein stability.

description: Phosphomimic. Slight decrease in the interaction with PIN1. Weak interaction with PIN1 in absence of IL33-mediated dendritic cell stimulation. Increases resistant to degradation. Localizes to the nucleus in absence of stimulus. Does not affect isomerization of Pro-111 peptide bond.

description: Abolishes dimerization.

description: Enhances dimerization.

description: No effect on the interaction with PIN1.

description: in Ref. 2; BAG60819

authors:
Wesche H.
Gao X.
Li X.
Kirschning C.J.
Stark G.R.
Cao Z.

title: IRAK-M is a novel member of the Pelle/interleukin-1 receptor-associated kinase (IRAK) family.

referencePositions:
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
FUNCTION
TISSUE SPECIFICITY
VARIANT VAL-147

authors:
Ota T.
Suzuki Y.
Nishikawa T.
Otsuki T.
Sugiyama T.
Irie R.
Wakamatsu A.
Hayashi K.
Sato H.
Nagai K.
Kimura K.
Makita H.
Sekine M.
Obayashi M.
Nishi T.
Shibahara T.
Tanaka T.
Ishii S.
Yamamoto J.
Saito K.
Kawai Y.
Isono Y.
Nakamura Y.
Nagahari K.
Murakami K.
Yasuda T.
Iwayanagi T.
Wagatsuma M.
Shiratori A.
Sudo H.
Hosoiri T.
Kaku Y.
Kodaira H.
Kondo H.
Sugawara M.
Takahashi M.
Kanda K.
Yokoi T.
Furuya T.
Kikkawa E.
Omura Y.
Abe K.
Kamihara K.
Katsuta N.
Sato K.
Tanikawa M.
Yamazaki M.
Ninomiya K.
Ishibashi T.
Yamashita H.
Murakawa K.
Fujimori K.
Tanai H.
Kimata M.
Watanabe M.
Hiraoka S.
Chiba Y.
Ishida S.
Ono Y.
Takiguchi S.
Watanabe S.
Yosida M.
Hotuta T.
Kusano J.
Kanehori K.
Takahashi-Fujii A.
Hara H.
Tanase T.-O.
Nomura Y.
Togiya S.
Komai F.
Hara R.
Takeuchi K.
Arita M.
Imose N.
Musashino K.
Yuuki H.
Oshima A.
Sasaki N.
Aotsuka S.
Yoshikawa Y.
Matsunawa H.
Ichihara T.
Shiohata N.
Sano S.
Moriya S.
Momiyama H.
Satoh N.
Takami S.
Terashima Y.
Suzuki O.
Nakagawa S.
Senoh A.
Mizoguchi H.
Goto Y.
Shimizu F.
Wakebe H.
Hishigaki H.
Watanabe T.
Sugiyama A.
Takemoto M.
Kawakami B.
Yamazaki M.
Watanabe K.
Kumagai A.
Itakura S.
Fukuzumi Y.
Fujimori Y.
Komiyama M.
Tashiro H.
Tanigami A.
Fujiwara T.
Ono T.
Yamada K.
Fujii Y.
Ozaki K.
Hirao M.
Ohmori Y.
Kawabata A.
Hikiji T.
Kobatake N.
Inagaki H.
Ikema Y.
Okamoto S.
Okitani R.
Kawakami T.
Noguchi S.
Itoh T.
Shigeta K.
Senba T.
Matsumura K.
Nakajima Y.
Mizuno T.
Morinaga M.
Sasaki M.
Togashi T.
Oyama M.
Hata H.
Watanabe M.
Komatsu T.
Mizushima-Sugano J.
Satoh T.
Shirai Y.
Takahashi Y.
Nakagawa K.
Okumura K.
Nagase T.
Nomura N.
Kikuchi H.
Masuho Y.
Yamashita R.
Nakai K.
Yada T.
Nakamura Y.
Ohara O.
Isogai T.
Sugano S.

title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

referencePositions: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)

authors:
Scherer S.E.
Muzny D.M.
Buhay C.J.
Chen R.
Cree A.
Ding Y.
Dugan-Rocha S.
Gill R.
Gunaratne P.
Harris R.A.
Hawes A.C.
Hernandez J.
Hodgson A.V.
Hume J.
Jackson A.
Khan Z.M.
Kovar-Smith C.
Lewis L.R.
Lozado R.J.
Metzker M.L.
Milosavljevic A.
Miner G.R.
Montgomery K.T.
Morgan M.B.
Nazareth L.V.
Scott G.
Sodergren E.
Song X.-Z.
Steffen D.
Lovering R.C.
Wheeler D.A.
Worley K.C.
Yuan Y.
Zhang Z.
Adams C.Q.
Ansari-Lari M.A.
Ayele M.
Brown M.J.
Chen G.
Chen Z.
Clerc-Blankenburg K.P.
Davis C.
Delgado O.
Dinh H.H.
Draper H.
Gonzalez-Garay M.L.
Havlak P.
Jackson L.R.
Jacob L.S.
Kelly S.H.
Li L.
Li Z.
Liu J.
Liu W.
Lu J.
Maheshwari M.
Nguyen B.-V.
Okwuonu G.O.
Pasternak S.
Perez L.M.
Plopper F.J.H.
Santibanez J.
Shen H.
Tabor P.E.
Verduzco D.
Waldron L.
Wang Q.
Williams G.A.
Zhang J.
Zhou J.
Allen C.C.
Amin A.G.
Anyalebechi V.
Bailey M.
Barbaria J.A.
Bimage K.E.
Bryant N.P.
Burch P.E.
Burkett C.E.
Burrell K.L.
Calderon E.
Cardenas V.
Carter K.
Casias K.
Cavazos I.
Cavazos S.R.
Ceasar H.
Chacko J.
Chan S.N.
Chavez D.
Christopoulos C.
Chu J.
Cockrell R.
Cox C.D.
Dang M.
Dathorne S.R.
David R.
Davis C.M.
Davy-Carroll L.
Deshazo D.R.
Donlin J.E.
D'Souza L.
Eaves K.A.
Egan A.
Emery-Cohen A.J.
Escotto M.
Flagg N.
Forbes L.D.
Gabisi A.M.
Garza M.
Hamilton C.
Henderson N.
Hernandez O.
Hines S.
Hogues M.E.
Huang M.
Idlebird D.G.
Johnson R.
Jolivet A.
Jones S.
Kagan R.
King L.M.
Leal B.
Lebow H.
Lee S.
LeVan J.M.
Lewis L.C.
London P.
Lorensuhewa L.M.
Loulseged H.
Lovett D.A.
Lucier A.
Lucier R.L.
Ma J.
Madu R.C.
Mapua P.
Martindale A.D.
Martinez E.
Massey E.
Mawhiney S.
Meador M.G.
Mendez S.
Mercado C.
Mercado I.C.
Merritt C.E.
Miner Z.L.
Minja E.
Mitchell T.
Mohabbat F.
Mohabbat K.
Montgomery B.
Moore N.
Morris S.
Munidasa M.
Ngo R.N.
Nguyen N.B.
Nickerson E.
Nwaokelemeh O.O.
Nwokenkwo S.
Obregon M.
Oguh M.
Oragunye N.
Oviedo R.J.
Parish B.J.
Parker D.N.
Parrish J.
Parks K.L.
Paul H.A.
Payton B.A.
Perez A.
Perrin W.
Pickens A.
Primus E.L.
Pu L.-L.
Puazo M.
Quiles M.M.
Quiroz J.B.
Rabata D.
Reeves K.
Ruiz S.J.
Shao H.
Sisson I.
Sonaike T.
Sorelle R.P.
Sutton A.E.
Svatek A.F.
Svetz L.A.
Tamerisa K.S.
Taylor T.R.
Teague B.
Thomas N.
Thorn R.D.
Trejos Z.Y.
Trevino B.K.
Ukegbu O.N.
Urban J.B.
Vasquez L.I.
Vera V.A.
Villasana D.M.
Wang L.
Ward-Moore S.
Warren J.T.
Wei X.
White F.
Williamson A.L.
Wleczyk R.
Wooden H.S.
Wooden S.H.
Yen J.
Yoon L.
Yoon V.
Zorrilla S.E.
Nelson D.
Kucherlapati R.
Weinstock G.
Gibbs R.A.

title: The finished DNA sequence of human chromosome 12.

referencePositions: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]

title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

referencePositions: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)

authors:
Balaci L.
Spada M.C.
Olla N.
Sole G.
Loddo L.
Anedda F.
Naitza S.
Zuncheddu M.A.
Maschio A.
Altea D.
Uda M.
Pilia S.
Sanna S.
Masala M.
Crisponi L.
Fattori M.
Devoto M.
Doratiotto S.
Rassu S.
Mereu S.
Giua E.
Cadeddu N.G.
Atzeni R.
Pelosi U.
Corrias A.
Perra R.
Torrazza P.L.
Pirina P.
Ginesu F.
Marcias S.
Schintu M.G.
Del Giacco G.S.
Manconi P.E.
Malerba G.
Bisognin A.
Trabetti E.
Boner A.
Pescollderungg L.
Pignatti P.F.
Schlessinger D.
Cao A.
Pilia G.

title: IRAK-M is involved in the pathogenesis of early-onset persistent asthma.

referencePositions: VARIANTS LEU-22; ALA-111; MET-134; VAL-400 AND GLN-429

authors:
Oppermann F.S.
Gnad F.
Olsen J.V.
Hornberger R.
Greff Z.
Keri G.
Mann M.
Daub H.

title: Large-scale proteomics analysis of the human kinome.

referencePositions: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-467

referencePositions: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]

authors:
Nechama M.
Kwon J.
Wei S.
Kyi A.T.
Welner R.S.
Ben-Dov I.Z.
Arredouani M.S.
Asara J.M.
Chen C.H.
Tsai C.Y.
Nelson K.F.
Kobayashi K.S.
Israel E.
Zhou X.Z.
Nicholson L.K.
Lu K.P.

title: The IL-33-PIN1-IRAK-M axis is critical for type 2 immunity in IL-33-induced allergic airway inflammation.

referencePositions: STRUCTURE BY NMR OF 1-119 OF MUTANTS ASP-56 AND GLU-61

authors:
Mathea S.
Chatterjee D.
Preuss F.
Kraemer A.
Knapp S.

title: The IRAK3 Pseudokinase Domain Bound To ATPgammaS.

referencePositions: X-RAY CRYSTALLOGRAPHY (2.18 ANGSTROMS) OF 141-455 IN COMPLEX WITH ATP ANALOG

authors:
Lange S.M.
Nelen M.I.
Cohen P.
Kulathu Y.

title: Dimeric Structure of the Pseudokinase IRAK3 Suggests an Allosteric Mechanism for Negative Regulation.

referencePositions: X-RAY CRYSTALLOGRAPHY (2.95 ANGSTROMS) OF 145-454

authors:
Greenman C.
Stephens P.
Smith R.
Dalgliesh G.L.
Hunter C.
Bignell G.
Davies H.
Teague J.
Butler A.
Stevens C.
Edkins S.
O'Meara S.
Vastrik I.
Schmidt E.E.
Avis T.
Barthorpe S.
Bhamra G.
Buck G.
Choudhury B.
Clements J.
Cole J.
Dicks E.
Forbes S.
Gray K.
Halliday K.
Harrison R.
Hills K.
Hinton J.
Jenkinson A.
Jones D.
Menzies A.
Mironenko T.
Perry J.
Raine K.
Richardson D.
Shepherd R.
Small A.
Tofts C.
Varian J.
Webb T.
West S.
Widaa S.
Yates A.
Cahill D.P.
Louis D.N.
Goldstraw P.
Nicholson A.G.
Brasseur F.
Looijenga L.
Weber B.L.
Chiew Y.-E.
DeFazio A.
Greaves M.F.
Green A.R.
Campbell P.
Birney E.
Easton D.F.
Chenevix-Trench G.
Tan M.-H.
Khoo S.K.
Teh B.T.
Yuen S.T.
Leung S.Y.
Wooster R.
Futreal P.A.
Stratton M.R.

title: Patterns of somatic mutation in human cancer genomes.

referencePositions: VARIANTS [LARGE SCALE ANALYSIS] ARG-57; SER-84; VAL-147; VAL-171; LEU-288; GLN-384; THR-391 AND ASN-482

value: 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

value: 8 GO annotations based on evolutionary models

value: MyD88:MAL(TIRAP) cascade initiated on plasma membrane

value: Expressed in monocyte and 161 other cell types or tissues

value: F:protein serine/threonine kinase activity

value: P:MyD88-dependent toll-like receptor signaling pathway

value: P:negative regulation of canonical NF-kappaB signal transduction

value: P:negative regulation of cytokine-mediated signaling pathway

value: P:negative regulation of innate immune response

value: P:negative regulation of interleukin-12 production

value: P:negative regulation of interleukin-6 production

value: P:negative regulation of macrophage cytokine production

value: P:negative regulation of protein catabolic process

value: P:negative regulation of protein-containing complex disassembly

value: P:negative regulation of toll-like receptor signaling pathway

value: P:negative regulation of tumor necrosis factor production

value: P:positive regulation of canonical NF-kappaB signal transduction

value: P:positive regulation of cytokine production

value: P:positive regulation of macrophage tolerance induction

value: P:regulation of protein-containing complex disassembly

value: Interleukin 1 receptor associated kinase 3

value: INTERLEUKIN-1 RECEPTOR-ASSOCIATED KINASE 3


value: DolP-glucosyltransferase

source: HGNC

value: Asparagine-linked glycosylation protein 5 homolog

value: Dolichyl-phosphate beta-glucosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides begins on the cytosolic side of the endoplasmic reticulum membrane and finishes in its lumen. The sequential addition of sugars to dolichol pyrophosphate produces dolichol-linked oligosaccharides containing fourteen sugars, including two GlcNAcs, nine mannoses and three glucoses. Once assembled, the oligosaccharide is transferred from the lipid to nascent proteins by oligosaccharyltransferases. Dolichyl-phosphate beta-glucosyltransferase produces dolichyl beta-D-glucosyl phosphate/Dol-P-Glc, the glucose donor substrate used sequentially by ALG6, ALG8 and ALG10 to add glucose residues on top of the Man(9)GlcNAc(2)-PP-Dol structure. These are the three last steps in the biosynthetic pathway of dolichol-linked oligosaccharides to produce Glc(3)Man(9)GlcNAc(2)-PP-Dol. The enzyme is most probably active on the cytoplasmic side of the endoplasmic reticulum while its product Dol-P-Glc is the substrate for ALG6, ALG8 and ALG11 in the lumen of the endoplasmic reticulum

commentType: CATALYTIC ACTIVITY

name: a di-trans,poly-cis-dolichyl phosphate + UDP-alpha-D-glucose = a di-trans,poly-cis-dolichyl beta-D-glucosyl phosphate + UDP

database: Rhea

directionType: left-to-right

value: Protein modification; protein glycosylation

commentType: PATHWAY

value: Endoplasmic reticulum membrane

value: Single-pass membrane protein

value: Expressed in pancreas, placenta, liver, heart, brain, kidney, skeletal muscle, and lung

diseaseId: Polycystic kidney disease 7

description: A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occur in other organs, particularly the liver. PKD7 inheritance is autosomal dominant.

value: The disease is caused by variants affecting the gene represented in this entry

value: Belongs to the glycosyltransferase 2 family

type: Topological domain

description: Lumenal

type: Transmembrane

description: Helical; Signal-anchor for type II membrane protein

description: Cytoplasmic

description: in isoform 2

description: in PKD7; loss of function in protein N-linked glycosylation; unable to rescue defective PKD1 glycosylation and maturation in ALG5-deficient cells; dbSNP:rs749484470

database: dbSNP

originalSequence: R

description: in PKD7; loss of function in protein N-linked glycosylation; unable to rescue defective PKD1 glycosylation and maturation in ALG5-deficient cells; dbSNP:rs1332833799

description: in PKD7

Alternative splicing

category: Coding sequence diversity

Disease variant

category: Disease

Endoplasmic reticulum

category: Cellular component

Glycosyltransferase

category: Molecular function

Proteomics identification

category: Technical term

Signal-anchor

category: Domain

citationType: journal article

authors:
Imbach T.
Burda P.
Kuhnert P.
Wevers R.A.
Aebi M.
Berger E.G.
Hennet T.

database: PubMed

database: DOI

title: A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.

journal: Proc. Natl. Acad. Sci. U.S.A.

referencePositions:
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
FUNCTION
CATALYTIC ACTIVITY
PATHWAY
SUBCELLULAR LOCATION
TISSUE SPECIFICITY

authors:
Zhang Q.-H.
Ye M.
Wu X.-Y.
Ren S.-X.
Zhao M.
Zhao C.-J.
Fu G.
Shen Y.
Fan H.-Y.
Lu G.
Zhong M.
Xu X.-R.
Han Z.-G.
Zhang J.-W.
Tao J.
Huang Q.-H.
Zhou J.
Hu G.-X.
Gu J.
Chen S.-J.
Chen Z.

title: Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.

journal: Genome Res.

value: Umbilical cord blood

type: TISSUE

authors:
Dunham A.
Matthews L.H.
Burton J.
Ashurst J.L.
Howe K.L.
Ashcroft K.J.
Beare D.M.
Burford D.C.
Hunt S.E.
Griffiths-Jones S.
Jones M.C.
Keenan S.J.
Oliver K.
Scott C.E.
Ainscough R.
Almeida J.P.
Ambrose K.D.
Andrews D.T.
Ashwell R.I.S.
Babbage A.K.
Bagguley C.L.
Bailey J.
Bannerjee R.
Barlow K.F.
Bates K.
Beasley H.
Bird C.P.
Bray-Allen S.
Brown A.J.
Brown J.Y.
Burrill W.
Carder C.
Carter N.P.
Chapman J.C.
Clamp M.E.
Clark S.Y.
Clarke G.
Clee C.M.
Clegg S.C.
Cobley V.
Collins J.E.
Corby N.
Coville G.J.
Deloukas P.
Dhami P.
Dunham I.
Dunn M.
Earthrowl M.E.
Ellington A.G.
Faulkner L.
Frankish A.G.
Frankland J.
French L.
Garner P.
Garnett J.
Gilbert J.G.R.
Gilson C.J.
Ghori J.
Grafham D.V.
Gribble S.M.
Griffiths C.
Hall R.E.
Hammond S.
Harley J.L.
Hart E.A.
Heath P.D.
Howden P.J.
Huckle E.J.
Hunt P.J.
Hunt A.R.
Johnson C.
Johnson D.
Kay M.
Kimberley A.M.
King A.
Laird G.K.
Langford C.J.
Lawlor S.
Leongamornlert D.A.
Lloyd D.M.
Lloyd C.
Loveland J.E.
Lovell J.
Martin S.
Mashreghi-Mohammadi M.
McLaren S.J.
McMurray A.
Milne S.
Moore M.J.F.
Nickerson T.
Palmer S.A.
Pearce A.V.
Peck A.I.
Pelan S.
Phillimore B.
Porter K.M.
Rice C.M.
Searle S.
Sehra H.K.
Shownkeen R.
Skuce C.D.
Smith M.
Steward C.A.
Sycamore N.
Tester J.
Thomas D.W.
Tracey A.
Tromans A.
Tubby B.
Wall M.
Wallis J.M.
West A.P.
Whitehead S.L.
Willey D.L.
Wilming L.
Wray P.W.
Wright M.W.
Young L.
Coulson A.
Durbin R.M.
Hubbard T.
Sulston J.E.
Beck S.
Bentley D.R.
Rogers J.
Ross M.T.

title: The DNA sequence and analysis of human chromosome 13.

authors:
Mural R.J.
Istrail S.
Sutton G.G.
Florea L.
Halpern A.L.
Mobarry C.M.
Lippert R.
Walenz B.
Shatkay H.
Dew I.
Miller J.R.
Flanigan M.J.
Edwards N.J.
Bolanos R.
Fasulo D.
Halldorsson B.V.
Hannenhalli S.
Turner R.
Yooseph S.
Lu F.
Nusskern D.R.
Shue B.C.
Zheng X.H.
Zhong F.
Delcher A.L.
Huson D.H.
Kravitz S.A.
Mouchard L.
Reinert K.
Remington K.A.
Clark A.G.
Waterman M.S.
Eichler E.E.
Adams M.D.
Hunkapiller M.W.
Myers E.W.
Venter J.C.

authors:
Burkard T.R.
Planyavsky M.
Kaupe I.
Breitwieser F.P.
Buerckstuemmer T.
Bennett K.L.
Superti-Furga G.
Colinge J.

title: Initial characterization of the human central proteome.

authors:
Zhou H.
Di Palma S.
Preisinger C.
Peng M.
Polat A.N.
Heck A.J.
Mohammed S.

title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

authors:
Bian Y.
Song C.
Cheng K.
Dong M.
Wang F.
Huang J.
Sun D.
Wang L.
Ye M.
Zou H.

title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

authors:
Vaca Jacome A.S.
Rabilloud T.
Schaeffer-Reiss C.
Rompais M.
Ayoub D.
Lane L.
Bairoch A.
Van Dorsselaer A.
Carapito C.

title: N-terminome analysis of the human mitochondrial proteome.

authoringGroup:
Genomics England Research Consortium
Genkyst Study Group

authors:
Lemoine H.
Raud L.
Foulquier F.
Sayer J.A.
Lambert B.
Olinger E.
Lefevre S.
Knebelmann B.
Harris P.C.
Trouve P.
Despres A.
Duneau G.
Matignon M.
Poyet A.
Jourde-Chiche N.
Guerrot D.
Lemoine S.
Seret G.
Barroso-Gil M.
Bingham C.
Gilbert R.
Le Meur Y.
Audrezet M.P.
Cornec-Le Gall E.

title: Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.

referencePositions: VARIANTS PKD7 HIS-208; HIS-212 AND 258-TRP--ASN-324 DEL

referencePositions: CHARACTERIZATION OF VARIANTS PKD7 HIS-208 AND HIS-212

value: Autosomal dominant polycystic kidney disease

value: 3 GO annotations based on evolutionary models

value: Expressed in parotid gland and 205 other cell types or tissues

value: C:cytoplasmic side of endoplasmic reticulum membrane

value: C:cytoplasmic side of rough endoplasmic reticulum membrane

value: P:dolichol-linked oligosaccharide biosynthetic process

value: Spore Coat Polysaccharide Biosynthesis Protein SpsA, Chain A


value: DNA (cytosine-5)-methyltransferase 3A

value: Cysteine methyltransferase DNMT3A

value: DNA methyltransferase HsaIIIA

value: DNA MTase HsaIIIA

value: Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development (PubMed:12138111, PubMed:16357870, PubMed:30478443). DNA methylation is coordinated with methylation of histones (PubMed:12138111, PubMed:16357870, PubMed:30478443). It modifies DNA in a non-processive manner and also methylates non-CpG sites (PubMed:12138111, PubMed:16357870, PubMed:30478443). May preferentially methylate DNA linker between 2 nucleosomal cores and is inhibited by histone H1 (By similarity). Plays a role in paternal and maternal imprinting (By similarity). Required for methylation of most imprinted loci in germ cells (By similarity). Acts as a transcriptional corepressor for ZBTB18 (By similarity). Recruited to trimethylated 'Lys-36' of histone H3 (H3K36me3) sites (By similarity). Can actively repress transcription through the recruitment of HDAC activity (By similarity). Also has weak auto-methylation activity on Cys-710 in absence of DNA (By similarity)

name: a 2'-deoxycytidine in DNA + S-adenosyl-L-methionine = a 5-methyl-2'-deoxycytidine in DNA + S-adenosyl-L-homocysteine + H(+)

name: L-cysteinyl-[protein] + S-adenosyl-L-methionine = S-methyl-L-cysteinyl-[protein] + S-adenosyl-L-homocysteine + H(+)

value: Activated by binding to the regulatory factor DNMT3L. Auto-methylation at Cys-710 in absence of DNA inactivates the DNA methyltransferase activity

commentType: ACTIVITY REGULATION

value: Heterotetramer composed of 1 DNMT3A homodimer and 2 DNMT3L subunits (DNMT3L-DNMT3A-DNMT3A-DNMT3L) (PubMed:17713477, PubMed:19834512). Interacts with UBC9, PIAS1 and PIAS2 (By similarity). Binds the ZBTB18 transcriptional repressor (By similarity). Interacts with SETDB1 (PubMed:16682412). Associates with HDAC1 through its ADD domain (By similarity). Interacts with UHRF1 (By similarity). Interacts with DNMT1 and DNMT3B (PubMed:12145218). Interacts with the PRC2/EED-EZH2 complex (PubMed:16357870). Interacts with MPHOSPH8 (PubMed:20871592, PubMed:22086334). Interacts with histone H3 that is not methylated at 'Lys-4' (H3K4) (By similarity). Interacts with SPOCD1 (By similarity). Interacts with ZNF263; recruited to the SIX3 promoter along with other proteins involved in chromatin modification and transcriptional corepression where it contributes to transcriptional repression (PubMed:32051553)

geneName: CREM

geneName: EED

geneName: MDFI

value: Accumulates in the major satellite repeats at pericentric heterochromatin

value: Nucleus

value: Chromosome

value: Cytoplasm

events:
Alternative promoter usage
Alternative splicing

value: Highly expressed in fetal tissues, skeletal muscle, heart, peripheral blood mononuclear cells, kidney, and at lower levels in placenta, brain, liver, colon, spleen, small intestine and lung

value: The PWWP domain is essential for targeting to pericentric heterochromatin. It specifically recognizes and binds trimethylated 'Lys-36' of histone H3 (H3K36me3) (By similarity)

value: Sumoylated; sumoylation disrupts the ability to interact with histone deacetylases (HDAC1 and HDAC2) and repress transcription

commentType: PTM

value: Auto-methylated at Cys-710: auto-methylation takes place in absence of DNA substrate and inactivates the DNA methyltransferase activity. Inactivation by auto-methylation may be used to inactivate unused DNA methyltransferases in the cell

diseaseId: Tatton-Brown-Rahman syndrome

acronym: TBRS

description: An overgrowth syndrome characterized by a distinctive facial appearance, tall stature and intellectual disability. Facial gestalt is characterized by a round face, heavy horizontal eyebrows and narrow palpebral fissures. Less common features include atrial septal defects, seizures, umbilical hernia, and scoliosis.

diseaseId: Leukemia, acute myelogenous

acronym: AML

description: A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes.

diseaseId: Heyn-Sproul-Jackson syndrome

acronym: HESJAS

description: An autosomal dominant form of microcephalic dwarfism. Affected individuals have intrauterine growth retardation, postnatal growth restrictions, proportionate short stature, microcephaly, severe developmental delay and impaired intellectual development. More variable features include sparse hair, short broad metacarpals and phalanges, and mild recurrent infections.

value: It is uncertain whether Met-1 or Met-35 is the initiator

commentType: MISCELLANEOUS

value: Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family

value: It is uncertain whether Met-1 or Met-4 is the initiator

description: DNA (cytosine-5)-methyltransferase 3A

description: PWWP

description: ADD

description: SAM-dependent MTase C5-type

description: GATA-type; atypical

description: PHD-type; atypical

description: Disordered

description: Interaction with DNMT1 and DNMT3B

description: Disordered

description: Disordered

description: Interaction with the PRC2/EED-EZH2 complex

description: Basic and acidic residues

description: Basic residues

description: Polar residues

description: Low complexity

description: Basic and acidic residues

description: Polar residues

description: Basic and acidic residues

description: Phosphoserine

description: Phosphothreonine

description: Omega-N-methylarginine

description: Phosphoserine

description: Phosphoserine

description: Phosphothreonine

description: Phosphoserine

description: Phosphoserine

description: Phosphoserine

description: S-methylcysteine; by autocatalysis

description: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)

description: in isoform 2

description: in isoform 3

description: in isoform 3

description: in TBRS; somatic mutation; dbSNP:rs587777508

description: in HESJAS; no effect on protein expression; changed DNA methylation; results in aberrant expression of genes involved in developmental processes

description: in HESJAS; changed DNA methylation; results in aberrant expression of genes involved in developmental processes

description: in TBRS; uncertain significance; dbSNP:rs144062658

description: in TBRS; uncertain significance; dbSNP:rs962805778

description: in TBRS; somatic mutation; dbSNP:rs951361433

description: in TBRS; somatic mutation; dbSNP:rs587777509

description: in TBRS; somatic mutation

description: in TBRS; somatic mutation; dbSNP:rs587777507

description: in a patient with chronic myelomonocytic leukemia; dbSNP:rs761064473

description: in TBRS; somatic mutation; dbSNP:rs772368909

description: in a patient with chronic myelomonocytic leukemia

description: in TBRS; somatic mutation; dbSNP:rs754613602

description: in TBRS; uncertain significance; dbSNP:rs757823678

description: in TBRS; uncertain significance; dbSNP:rs979932565

description: in TBRS; somatic mutation; dbSNP:rs961377711

description: in TBRS and AML; somatic variant in AML; dbSNP:rs377577594

description: in TBRS and AML; somatic variant in AML; dbSNP:rs147001633

description: in a patient with chronic myelomonocytic leukemia; somatic mutation; dbSNP:rs147001633

description: in TBRS; somatic mutation; dbSNP:rs587777510

description: in TBRS; somatic mutation; dbSNP:rs149095705

description: Loss of activity due to the incapacity to bind the regulatory subunit DNMT3L.

authors:
Xie S.
Wang Z.
Okano M.
Nogami M.
Li Y.
He W.-W.
Okumura K.
Li E.

title: Cloning, expression and chromosome locations of the human DNMT3 gene family.

title: A novel Dnmt3a isoform produced from an alternative promoter localizes to euchromatin and its expression correlates with active de novo methylation.

referencePositions:
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2)
FUNCTION
CATALYTIC ACTIVITY

authors:
Kim G.-D.
Ni J.
Kelesoglu N.
Roberts R.J.
Pradhan S.

title: Co-operation and communication between the human maintenance and de novo DNA (cytosine-5) methyltransferases.

referencePositions:
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
INTERACTION WITH DNMT1 AND DNMT3B
SUBCELLULAR LOCATION

authors:
Hillier L.W.
Graves T.A.
Fulton R.S.
Fulton L.A.
Pepin K.H.
Minx P.
Wagner-McPherson C.
Layman D.
Wylie K.
Sekhon M.
Becker M.C.
Fewell G.A.
Delehaunty K.D.
Miner T.L.
Nash W.E.
Kremitzki C.
Oddy L.
Du H.
Sun H.
Bradshaw-Cordum H.
Ali J.
Carter J.
Cordes M.
Harris A.
Isak A.
van Brunt A.
Nguyen C.
Du F.
Courtney L.
Kalicki J.
Ozersky P.
Abbott S.
Armstrong J.
Belter E.A.
Caruso L.
Cedroni M.
Cotton M.
Davidson T.
Desai A.
Elliott G.
Erb T.
Fronick C.
Gaige T.
Haakenson W.
Haglund K.
Holmes A.
Harkins R.
Kim K.
Kruchowski S.S.
Strong C.M.
Grewal N.
Goyea E.
Hou S.
Levy A.
Martinka S.
Mead K.
McLellan M.D.
Meyer R.
Randall-Maher J.
Tomlinson C.
Dauphin-Kohlberg S.
Kozlowicz-Reilly A.
Shah N.
Swearengen-Shahid S.
Snider J.
Strong J.T.
Thompson J.
Yoakum M.
Leonard S.
Pearman C.
Trani L.
Radionenko M.
Waligorski J.E.
Wang C.
Rock S.M.
Tin-Wollam A.-M.
Maupin R.
Latreille P.
Wendl M.C.
Yang S.-P.
Pohl C.
Wallis J.W.
Spieth J.
Bieri T.A.
Berkowicz N.
Nelson J.O.
Osborne J.
Ding L.
Meyer R.
Sabo A.
Shotland Y.
Sinha P.
Wohldmann P.E.
Cook L.L.
Hickenbotham M.T.
Eldred J.
Williams D.
Jones T.A.
She X.
Ciccarelli F.D.
Izaurralde E.
Taylor J.
Schmutz J.
Myers R.M.
Cox D.R.
Huang X.
McPherson J.D.
Mardis E.R.
Clifton S.W.
Warren W.C.
Chinwalla A.T.
Eddy S.R.
Marra M.A.
Ovcharenko I.
Furey T.S.
Miller W.
Eichler E.E.
Bork P.
Suyama M.
Torrents D.
Waterston R.H.
Wilson R.K.

title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

referencePositions: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3)

authors:
Robertson K.D.
Uzvolgyi E.
Liang G.
Talmadge C.
Sumegi J.
Gonzales F.A.
Jones P.A.

title: The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors.

authors:
Olsen J.V.
Blagoev B.
Gnad F.
Macek B.
Kumar C.
Mortensen P.
Mann M.

title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

referencePositions: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-105

authors:
Li H.
Rauch T.
Chen Z.-X.
Szabo P.E.
Riggs A.D.
Pfeifer G.P.

title: The histone methyltransferase SETDB1 and the DNA methyltransferase DNMT3A interact directly and localize to promoters silenced in cancer cells.

authors:
Vire E.
Brenner C.
Deplus R.
Blanchon L.
Fraga M.
Didelot C.
Morey L.
Van Eynde A.
Bernard D.
Vanderwinden J.-M.
Bollen M.
Esteller M.
Di Croce L.
de Launoit Y.
Fuks F.

title: The Polycomb group protein EZH2 directly controls DNA methylation.

referencePositions: INTERACTION WITH THE PRC2/EED-EZH2 COMPLEX

authors:
Schlesinger Y.
Straussman R.
Keshet I.
Farkash S.
Hecht M.
Zimmerman J.
Eden E.
Yakhini Z.
Ben-Shushan E.
Reubinoff B.E.
Bergman Y.
Simon I.
Cedar H.

title: Polycomb-mediated methylation on Lys27 of histone H3 pre-marks genes for de novo methylation in cancer.

authors:
Dephoure N.
Zhou C.
Villen J.
Beausoleil S.A.
Bakalarski C.E.
Elledge S.J.
Gygi S.P.

title: A quantitative atlas of mitotic phosphorylation.

title: Methyl-H3K9-binding protein MPP8 mediates E-cadherin gene silencing and promotes tumour cell motility and invasion.

authors:
Ley T.J.
Ding L.
Walter M.J.
McLellan M.D.
Lamprecht T.
Larson D.E.
Kandoth C.
Payton J.E.
Baty J.
Welch J.
Harris C.C.
Lichti C.F.
Townsend R.R.
Fulton R.S.
Dooling D.J.
Koboldt D.C.
Schmidt H.
Zhang Q.
Osborne J.R.
Lin L.
O'Laughlin M.
McMichael J.F.
Delehaunty K.D.
McGrath S.D.
Fulton L.A.
Magrini V.J.
Vickery T.L.
Hundal J.
Cook L.L.
Conyers J.J.
Swift G.W.
Reed J.P.
Alldredge P.A.
Wylie T.
Walker J.
Kalicki J.
Watson M.A.
Heath S.
Shannon W.D.
Varghese N.
Nagarajan R.
Westervelt P.
Tomasson M.H.
Link D.C.
Graubert T.A.
DiPersio J.F.
Mardis E.R.
Wilson R.K.

title: DNMT3A mutations in acute myeloid leukemia.

referencePositions:
INVOLVEMENT IN AML
VARIANTS AML HIS-882 AND CYS-882

authors:
Olsen J.V.
Vermeulen M.
Santamaria A.
Kumar C.
Miller M.L.
Jensen L.J.
Gnad F.
Cox J.
Jensen T.S.
Nigg E.A.
Brunak S.
Mann M.

title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

referencePositions: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-243

authors:
Rigbolt K.T.
Prokhorova T.A.
Akimov V.
Henningsen J.
Johansen P.T.
Kratchmarova I.
Kassem M.
Mann M.
Olsen J.V.
Blagoev B.

title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

referencePositions: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-105; SER-243; SER-255; THR-261 AND SER-267

authors:
Tatton-Brown K.
Seal S.
Ruark E.
Harmer J.
Ramsay E.
Del Vecchio Duarte S.
Zachariou A.
Hanks S.
O'Brien E.
Aksglaede L.
Baralle D.
Dabir T.
Gener B.
Goudie D.
Homfray T.
Kumar A.
Pilz D.T.
Selicorni A.
Temple I.K.
Van Maldergem L.
Yachelevich N.
van Montfort R.
Rahman N.

title: Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

authors:
Hendriks I.A.
Lyon D.
Young C.
Jensen L.J.
Vertegaal A.C.
Nielsen M.L.

title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

referencePositions: SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-162

authors:
Heyn P.
Logan C.V.
Fluteau A.
Challis R.C.
Auchynnikava T.
Martin C.A.
Marsh J.A.
Taglini F.
Kilanowski F.
Parry D.A.
Cormier-Daire V.
Fong C.T.
Gibson K.
Hwa V.
Ibanez L.
Robertson S.P.
Sebastiani G.
Rappsilber J.
Allshire R.C.
Reijns M.A.M.
Dauber A.
Sproul D.
Jackson A.P.

title: Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.

referencePositions: CHARACTERIZATION OF VARIANTS HESJAS ARG-330 AND ASN-333

authors:
Yu Z.
Feng J.
Wang W.
Deng Z.
Zhang Y.
Xiao L.
Wang Z.
Liu C.
Liu Q.
Chen S.
Wu M.

title: The EGFR-ZNF263 signaling axis silences SIX3 in glioblastoma epigenetically.

authors:
Jia D.
Jurkowska R.Z.
Zhang X.
Jeltsch A.
Cheng X.

title: Structure of Dnmt3a bound to Dnmt3L suggests a model for de novo DNA methylation.

referencePositions: X-RAY CRYSTALLOGRAPHY (2.89 ANGSTROMS) OF 627-909 IN COMPLEX WITH S-ADENOSYL-L-HOMOCYSTEINE

authors:
Otani J.
Nankumo T.
Arita K.
Inamoto S.
Ariyoshi M.
Shirakawa M.

title: Structural basis for recognition of H3K4 methylation status by the DNA methyltransferase 3A ATRX-DNMT3-DNMT3L domain.

referencePositions: X-RAY CRYSTALLOGRAPHY (2.29 ANGSTROMS) OF 476-614 IN COMPLEXES WITH ZINC AND WITH HISTONE H3 PEPTIDE

authors:
Chang Y.
Sun L.
Kokura K.
Horton J.R.
Fukuda M.
Espejo A.
Izumi V.
Koomen J.M.
Bedford M.T.
Zhang X.
Shinkai Y.
Fang J.
Cheng X.

title: MPP8 mediates the interactions between DNA methyltransferase Dnmt3a and H3K9 methyltransferase GLP/G9a.

referencePositions: X-RAY CRYSTALLOGRAPHY (2.31 ANGSTROMS) OF 40-53 IN COMPLEX WITH MPHOSPH8

authors:
Wu H.
Zeng H.
Lam R.
Tempel W.
Amaya M.F.
Xu C.
Dombrovski L.
Qiu W.
Wang Y.
Min J.

title: Structural and histone binding ability characterizations of human PWWP domains.

referencePositions: X-RAY CRYSTALLOGRAPHY (2.30 ANGSTROMS) OF 275-427

authors:
Jankowska A.M.
Makishima H.
Tiu R.V.
Szpurka H.
Huang Y.
Traina F.
Visconte V.
Sugimoto Y.
Prince C.
O'Keefe C.
Hsi E.D.
List A.
Sekeres M.A.
Rao A.
McDevitt M.A.
Maciejewski J.P.

title: Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A.

referencePositions: VARIANTS ASP-699; PHE-731 DEL; CYS-882; HIS-882 AND PRO-882

authors:
Xin B.
Cruz Marino T.
Szekely J.
Leblanc J.
Cechner K.
Sency V.
Wensel C.
Barabas M.
Therriault V.
Wang H.

title: Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.

authors:
Tlemsani C.
Luscan A.
Leulliot N.
Bieth E.
Afenjar A.
Baujat G.
Doco-Fenzy M.
Goldenberg A.
Lacombe D.
Lambert L.
Odent S.
Pasche J.
Sigaudy S.
Buffet A.
Violle-Poirsier C.
Briand-Suleau A.
Laurendeau I.
Chin M.
Saugier-Veber P.
Vidaud D.
Cormier-Daire V.
Vidaud M.
Pasmant E.
Burglen L.

title: SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.

referencePositions: VARIANTS TBRS CYS-365; ASN-529; GLY-778 AND CYS-882

authors:
Kosaki R.
Terashima H.
Kubota M.
Kosaki K.

title: Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.

authors:
Shen W.
Heeley J.M.
Carlston C.M.
Acuna-Hidalgo R.
Nillesen W.M.
Dent K.M.
Douglas G.V.
Levine K.L.
Bayrak-Toydemir P.
Marcelis C.L.
Shinawi M.
Carey J.C.

title: The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

authors:
Hollink I.H.I.M.
van den Ouweland A.M.W.
Beverloo H.B.
Arentsen-Peters S.T.C.J.M.
Zwaan C.M.
Wagner A.

title: Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation.

value: DNA (cytosine-5)-methyltransferase 3A complex

value: 37 evidence items across 9 molecular profiles

value: Acute myeloid leukaemia with myelodysplasia-related features

value: 4 GO annotations based on evolutionary models

value: Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)

value: Expressed in sural nerve and 144 other cell types or tissues

value: F:RNA polymerase II cis-regulatory region sequence-specific DNA binding

value: F:RNA polymerase II-specific DNA-binding transcription factor binding

value: P:DNA methylation-dependent constitutive heterochromatin formation

value: P:negative regulation of DNA-templated transcription

value: P:negative regulation of gene expression via chromosomal CpG island methylation

value: P:negative regulation of transcription by RNA polymerase II

value: P:positive regulation of cellular response to hypoxia

value: P:regulatory ncRNA-mediated heterochromatin formation

value: P:transposable element silencing by piRNA-mediated DNA methylation

value: DNA (Cytosine-5)-methyltransferase 3A isoform X1

value: DNA (Cytosine-5)-methyltransferase 3B isoform 3

value: DNA CYTOSINE-5- -METHYLTRANSFERASE 3-RELATED


scientificName: Schizosaccharomyces pombe (strain 972 / ATCC 24843)

commonName: Fission yeast

lineage: Eukaryota Fungi Dikarya Ascomycota Taphrinomycotina Schizosaccharomycetes Schizosaccharomycetales Schizosaccharomycetaceae Schizosaccharomyces

proteinExistence: 3: Inferred from homology

value: Dolichol kinase sec59

source: PomBase

value: Catalyzes CTP-mediated phosphorylation of dolichol, the terminal step in de novo dolichyl monophosphate (Dol-P) biosynthesis. Dol-P is a lipid carrier essential for the synthesis of N-linked and O-linked oligosaccharides and for GPI anchors

name: a di-trans,poly-cis-dolichol + CTP = a di-trans,poly-cis-dolichyl phosphate + CDP + H(+)

value: Protein modification; protein glycosylation

value: Endoplasmic reticulum membrane

value: Multi-pass membrane protein

value: Belongs to the polyprenol kinase family

description: Dolichol kinase sec59

description: Cytoplasmic

description: Helical

description: Lumenal

description: Helical

description: Cytoplasmic

description: Helical

description: Lumenal

description: Helical

description: Cytoplasmic

description: Helical

description: Lumenal

description: Helical

description: Cytoplasmic

description: Helical

description: Lumenal

description: Helical

description: Cytoplasmic

description: Helical

description: Lumenal

description: Helical

description: Cytoplasmic

description: Helical

description: Lumenal

authors:
Wood V.
Gwilliam R.
Rajandream M.A.
Lyne M.H.
Lyne R.
Stewart A.
Sgouros J.G.
Peat N.
Hayles J.
Baker S.G.
Basham D.
Bowman S.
Brooks K.
Brown D.
Brown S.
Chillingworth T.
Churcher C.M.
Collins M.
Connor R.
Cronin A.
Davis P.
Feltwell T.
Fraser A.
Gentles S.
Goble A.
Hamlin N.
Harris D.E.
Hidalgo J.
Hodgson G.
Holroyd S.
Hornsby T.
Howarth S.
Huckle E.J.
Hunt S.
Jagels K.
James K.D.
Jones L.
Jones M.
Leather S.
McDonald S.
McLean J.
Mooney P.
Moule S.
Mungall K.L.
Murphy L.D.
Niblett D.
Odell C.
Oliver K.
O'Neil S.
Pearson D.
Quail M.A.
Rabbinowitsch E.
Rutherford K.M.
Rutter S.
Saunders D.
Seeger K.
Sharp S.
Skelton J.
Simmonds M.N.
Squares R.
Squares S.
Stevens K.
Taylor K.
Taylor R.G.
Tivey A.
Walsh S.V.
Warren T.
Whitehead S.
Woodward J.R.
Volckaert G.
Aert R.
Robben J.
Grymonprez B.
Weltjens I.
Vanstreels E.
Rieger M.
Schaefer M.
Mueller-Auer S.
Gabel C.
Fuchs M.
Duesterhoeft A.
Fritzc C.
Holzer E.
Moestl D.
Hilbert H.
Borzym K.
Langer I.
Beck A.
Lehrach H.
Reinhardt R.
Pohl T.M.
Eger P.
Zimmermann W.
Wedler H.
Wambutt R.
Purnelle B.
Goffeau A.
Cadieu E.
Dreano S.
Gloux S.
Lelaure V.
Mottier S.
Galibert F.
Aves S.J.
Xiang Z.
Hunt C.
Moore K.
Hurst S.M.
Lucas M.
Rochet M.
Gaillardin C.
Tallada V.A.
Garzon A.
Thode G.
Daga R.R.
Cruzado L.
Jimenez J.
Sanchez M.
del Rey F.
Benito J.
Dominguez A.
Revuelta J.L.
Moreno S.
Armstrong J.
Forsburg S.L.
Cerutti L.
Lowe T.
McCombie W.R.
Paulsen I.
Potashkin J.
Shpakovski G.V.
Ussery D.
Barrell B.G.
Nurse P.

title: The genome sequence of Schizosaccharomyces pombe.

referencePositions: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]

authors:
Rhind N.
Chen Z.
Yassour M.
Thompson D.A.
Haas B.J.
Habib N.
Wapinski I.
Roy S.
Lin M.F.
Heiman D.I.
Young S.K.
Furuya K.
Guo Y.
Pidoux A.
Chen H.M.
Robbertse B.
Goldberg J.M.
Aoki K.
Bayne E.H.
Berlin A.M.
Desjardins C.A.
Dobbs E.
Dukaj L.
Fan L.
FitzGerald M.G.
French C.
Gujja S.
Hansen K.
Keifenheim D.
Levin J.Z.
Mosher R.A.
Mueller C.A.
Pfiffner J.
Priest M.
Russ C.
Smialowska A.
Swoboda P.
Sykes S.M.
Vaughn M.
Vengrova S.
Yoder R.
Zeng Q.
Allshire R.
Baulcombe D.
Birren B.W.
Brown W.
Ekwall K.
Kellis M.
Leatherwood J.
Levin H.
Margalit H.
Martienssen R.
Nieduszynski C.A.
Spatafora J.W.
Friedman N.
Dalgaard J.Z.
Baumann P.
Niki H.
Regev A.
Nusbaum C.

title: Comparative functional genomics of the fission yeasts.

authors:
Matsuyama A.
Arai R.
Yashiroda Y.
Shirai A.
Kamata A.
Sekido S.
Kobayashi Y.
Hashimoto A.
Hamamoto M.
Hiraoka Y.
Horinouchi S.
Yoshida M.

title: ORFeome cloning and global analysis of protein localization in the fission yeast Schizosaccharomyces pombe.

referencePositions: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS]

value: P:dolichol phosphate mannose biosynthetic process

value: P:dolichyl monophosphate biosynthetic process


entryType: UniProtKB unreviewed (TrEMBL)

scientificName: Gibberella fujikuroi (strain CBS 195.34 / IMI 58289 / NRRL A-6831)

commonName: Bakanae and foot rot disease fungus

source: Proteomes

lineage:
Eukaryota
Fungi
Dikarya
Ascomycota
Pezizomycotina
Sordariomycetes
Hypocreomycetidae
Hypocreales
Nectriaceae
Fusarium
Fusarium fujikuroi species complex

proteinExistence: 4: Predicted

source: Google

value: Protein kinase domain-containing protein

authors:
Wiemann P.
Sieber C.M.
von Bargen K.W.
Studt L.
Niehaus E.M.
Espino J.J.
Huss K.
Michielse C.B.
Albermann S.
Wagner D.
Bergner S.V.
Connolly L.R.
Fischer A.
Reuter G.
Kleigrewe K.
Bald T.
Wingfield B.D.
Ophir R.
Freeman S.
Hippler M.
Smith K.M.
Brown D.W.
Proctor R.H.
Munsterkotter M.
Freitag M.
Humpf H.U.
Guldener U.
Tudzynski B.

title: Deciphering the cryptic genome: genome-wide analyses of the rice pathogen Fusarium fujikuroi reveal complex regulation of secondary metabolism and novel metabolites.

journal: PLoS Pathog.

type: STRAIN

database: EMBL

key: ProteinId

key: Status

key: MoleculeType

database: RefSeq

key: NucleotideSequenceId

key: Description

database: VEuPathDB

database: HOGENOM

database: Proteomes

key: Component

value: Chromosome VI

key: EntryName

key: MatchStatus

database: InterPro

database: SUPFAM

value: Protein kinase-like (PK-like)


scientificName: Caenorhabditis elegans

lineage: Eukaryota Metazoa Ecdysozoa Nematoda Chromadorea Rhabditida Rhabditina Rhabditomorpha Rhabditoidea Rhabditidae Peloderinae Caenorhabditis

source: ARBA

source: PIRNR

value: DDB1- and CUL4-associated factor 11 homolog

source: WormBase

value: Involved in regulation of lifespan. Required for dopaminergic CEP neuron degeneration in response to Mn(2+)

value: Belongs to the WD repeat LEC14B family

type: Repeat

description: WD

description: WD

description: WD

Phosphoprotein

category: PTM

authors:
Sulson J.E.
Waterston R.

title: Genome sequence of the nematode C. elegans: a platform for investigating biology.

journal: Science

value: Bristol N2

database: AlphaFoldDB

database: SMR

database: AGR

database: WormBase

key: GeneId

database: OrthoDB

value: Chromosome I

database: Bgee

key: ExpressionPatterns

value: Expressed in pharyngeal muscle cell (C elegans) and 4 other cell types or tissues

database: ExpressionAtlas

value: baseline and differential

database: FunFam

value: DDB1-and CUL4-associated factor 11 homolog

value: YVTN repeat-like/Quinoprotein amine dehydrogenase

value: DCAF


value: Dolichol-phosphate mannosyltransferase subunit 1

Proteomics identification

source: PeptideAtlas

database: PubMed

database: PeptideAtlas

database: GeneID

database: KEGG

database: CTD

value: Chromosome IV

database: GO

key: GoTerm

key: GoEvidenceType

database: PANTHER

value: DOLICHOL-PHOSPHATE MANNOSYLTRANSFERASE SUBUNIT 1


scientificName: Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)

lineage: Eukaryota Fungi Dikarya Ascomycota Pezizomycotina Sordariomycetes Sordariomycetidae Sordariales Sordariaceae Neurospora

source: PROSITE

description: N-acetyltransferase

authors:
Galagan J.E.
Calvo S.E.
Borkovich K.A.
Selker E.U.
Read N.D.
Jaffe D.
FitzHugh W.
Ma L.J.
Smirnov S.
Purcell S.
Rehman B.
Elkins T.
Engels R.
Wang S.
Nielsen C.B.
Butler J.
Endrizzi M.
Qui D.
Ianakiev P.
Bell-Pedersen D.
Nelson M.A.
Werner-Washburne M.
Selitrennikoff C.P.
Kinsey J.A.
Braun E.L.
Zelter A.
Schulte U.
Kothe G.O.
Jedd G.
Mewes W.
Staben C.
Marcotte E.
Greenberg D.
Roy A.
Foley K.
Naylor J.
Stange-Thomann N.
Barrett R.
Gnerre S.
Kamal M.
Kamvysselis M.
Mauceli E.
Bielke C.
Rudd S.
Frishman D.
Krystofova S.
Rasmussen C.
Metzenberg R.L.
Perkins D.D.
Kroken S.
Cogoni C.
Macino G.
Catcheside D.
Li W.
Pratt R.J.
Osmani S.A.
DeSouza C.P.
Glass L.
Orbach M.J.
Berglund J.A.
Voelker R.
Yarden O.
Plamann M.
Seiler S.
Dunlap J.
Radford A.
Aramayo R.
Natvig D.O.
Alex L.A.
Mannhaupt G.
Ebbole D.J.
Freitag M.
Paulsen I.
Sachs M.S.
Lander E.S.
Nusbaum C.
Birren B.

database: DOI

title: The genome sequence of the filamentous fungus Neurospora crassa.

journal: Nature

database: EMBL

database: RefSeq

database: PaxDb

database: VEuPathDB

database: InParanoid

database: Proteomes

value: Chromosome 7, Linkage Group VII

value: F:acyltransferase activity, transferring groups other than amino-acyl groups

database: CDD

database: InterPro

database: Pfam

value: Acyl-CoA N-acyltransferases (Nat)

database: PROSITE

value: GNAT


value: BZIP-type transcription factor

value: Nucleus

description: Disordered

description: Disordered

type: Compositional bias

description: Polar residues

description: Basic and acidic residues

description: Low complexity

database: PubMed

citationType: submission

authoringGroup: The Broad Institute Genome Sequencing Platform

authors:
Galagan J.
Henn M.R.
Hood H.
Radford A.
Collins R.A.
Walker B.
Young S.K.
Zeng Q.
Gargeya S.
Fitzgerald M.
Haas B.
Abouelleil A.
Allen A.W.
Alvarado L.
Arachchi H.M.
Berlin A.
Chapman S.B.
Chen Z.
Gainer-Dewar J.
Gnerre S.
Goldberg J.
Griggs A.
Gujja S.
Hansen M.
Howarth C.
Imamovic A.
Ireland A.
Larimer J.B.
McCowan C.
Murphy C.
Pearson M.D.
Poon T.W.
Priest M.
Roberts A.
Saif S.
Shea T.D.
Sisk P.
Shea T.
Sykes S.
Zucker J.
Kodira C.
Bowman B.
Colot H.
Ebbole D.
Rasmussen C.
Baker C.
Kalkman E.
Chen C.-H.
Shi M.
Mathur R.
Lambreghts R.
Collopy P.
Mehra A.
Schweredtfeger C.
Hong C.
Belden W.
Glass N.L.
Borkovich K.
Dunlap J.
Lander E.
Wortman J.
Nusbaum C.
Sachs M.
Birren B.

title: The Genome Sequence of Neurospora crassa strain OR74A.

submissionDatabase: EMBL/GenBank/DDBJ databases

database: AlphaFoldDB

database: SMR

database: STRING

database: OrthoDB

value: Chromosome 1, Linkage Group I

value: C:RNA polymerase II transcription regulator complex

value: F:DNA-binding transcription activator activity, RNA polymerase II-specific

value: F:transcription cis-regulatory region binding

value: YAP1 redox domain. Chain B

value: AP-1-LIKE TRANSCRIPTION FACTOR YAP1-RELATED


scientificName: Drosophila melanogaster

commonName: Fruit fly

lineage: Eukaryota Metazoa Ecdysozoa Arthropoda Altocrustacea Allotriocarida Hexapoda Insecta Pterygota Neoptera Eumetabola Endopterygota Aparaglossata Panorpida Diptera Brachycera Muscomorpha Ephydroidea Drosophilidae Drosophila Sophophora

value: Loquacious, isoform F

source: FlyBase

value: loqs

value: dRax

value: loq

value: LOQS

value: Loqs

value: Loqs-PD

value: LqPD

value: TRBP

value: Cytoplasm

description: DRBM

description: DRBM

description: DRBM

description: Disordered

description: Polar residues

description: Gly residues

RNA-mediated gene silencing

category: Biological process

authors:
Adams M.D.
Celniker S.E.
Holt R.A.
Evans C.A.
Gocayne J.D.
Amanatides P.G.
Scherer S.E.
Li P.W.
Hoskins R.A.
Galle R.F.
George R.A.
Lewis S.E.
Richards S.
Ashburner M.
Henderson S.N.
Sutton G.G.
Wortman J.R.
Yandell M.D.
Zhang Q.
Chen L.X.
Brandon R.C.
Rogers Y.H.
Blazej R.G.
Champe M.
Pfeiffer B.D.
Wan K.H.
Doyle C.
Baxter E.G.
Helt G.
Nelson C.R.
Gabor G.L.
Abril J.F.
Agbayani A.
An H.J.
Andrews-Pfannkoch C.
Baldwin D.
Ballew R.M.
Basu A.
Baxendale J.
Bayraktaroglu L.
Beasley E.M.
Beeson K.Y.
Benos P.V.
Berman B.P.
Bhandari D.
Bolshakov S.
Borkova D.
Botchan M.R.
Bouck J.
Brokstein P.
Brottier P.
Burtis K.C.
Busam D.A.
Butler H.
Cadieu E.
Center A.
Chandra I.
Cherry J.M.
Cawley S.
Dahlke C.
Davenport L.B.
Davies P.
de Pablos B.
Delcher A.
Deng Z.
Mays A.D.
Dew I.
Dietz S.M.
Dodson K.
Doup L.E.
Downes M.
Dugan-Rocha S.
Dunkov B.C.
Dunn P.
Durbin K.J.
Evangelista C.C.
Ferraz C.
Ferriera S.
Fleischmann W.
Fosler C.
Gabrielian A.E.
Garg N.S.
Gelbart W.M.
Glasser K.
Glodek A.
Gong F.
Gorrell J.H.
Gu Z.
Guan P.
Harris M.
Harris N.L.
Harvey D.
Heiman T.J.
Hernandez J.R.
Houck J.
Hostin D.
Houston K.A.
Howland T.J.
Wei M.H.
Ibegwam C.
Jalali M.
Kalush F.
Karpen G.H.
Ke Z.
Kennison J.A.
Ketchum K.A.
Kimmel B.E.
Kodira C.D.
Kraft C.
Kravitz S.
Kulp D.
Lai Z.
Lasko P.
Lei Y.
Levitsky A.A.
Li J.
Li Z.
Liang Y.
Lin X.
Liu X.
Mattei B.
McIntosh T.C.
McLeod M.P.
McPherson D.
Merkulov G.
Milshina N.V.
Mobarry C.
Morris J.
Moshrefi A.
Mount S.M.
Moy M.
Murphy B.
Murphy L.
Muzny D.M.
Nelson D.L.
Nelson D.R.
Nelson K.A.
Nixon K.
Nusskern D.R.
Pacleb J.M.
Palazzolo M.
Pittman G.S.
Pan S.
Pollard J.
Puri V.
Reese M.G.
Reinert K.
Remington K.
Saunders R.D.
Scheeler F.
Shen H.
Shue B.C.
Siden-Kiamos I.
Simpson M.
Skupski M.P.
Smith T.
Spier E.
Spradling A.C.
Stapleton M.
Strong R.
Sun E.
Svirskas R.
Tector C.
Turner R.
Venter E.
Wang A.H.
Wang X.
Wang Z.Y.
Wassarman D.A.
Weinstock G.M.
Weissenbach J.
Williams S.M.
WoodageT
Worley K.C.
Wu D.
Yang S.
Yao Q.A.
Ye J.
Yeh R.F.
Zaveri J.S.
Zhan M.
Zhang G.
Zhao Q.
Zheng L.
Zheng X.H.
Zhong F.N.
Zhong W.
Zhou X.
Zhu S.
Zhu X.
Smith H.O.
Gibbs R.A.
Myers E.W.
Rubin G.M.
Venter J.C.

title: The genome sequence of Drosophila melanogaster.

value: Berkeley

authors:
Celniker S.E.
Wheeler D.A.
Kronmiller B.
Carlson J.W.
Halpern A.
Patel S.
Adams M.
Champe M.
Dugan S.P.
Frise E.
Hodgson A.
George R.A.
Hoskins R.A.
Laverty T.
Muzny D.M.
Nelson C.R.
Pacleb J.M.
Park S.
Pfeiffer B.D.
Richards S.
Sodergren E.J.
Svirskas R.
Tabor P.E.
Wan K.
Stapleton M.
Sutton G.G.
Venter C.
Weinstock G.
Scherer S.E.
Myers E.W.
Gibbs R.A.
Rubin G.M.

title: Finishing a whole-genome shotgun: release 3 of the Drosophila melanogaster euchromatic genome sequence.

journal: Genome Biol.

authors:
Misra S.
Crosby M.A.
Mungall C.J.
Matthews B.B.
Campbell K.S.
Hradecky P.
Huang Y.
Kaminker J.S.
Millburn G.H.
Prochnik S.E.
Smith C.D.
Tupy J.L.
Whitfied E.J.
Bayraktaroglu L.
Berman B.P.
Bettencourt B.R.
Celniker S.E.
de Grey A.D.
Drysdale R.A.
Harris N.L.
Richter J.
Russo S.
Schroeder A.J.
Shu S.Q.
Stapleton M.
Yamada C.
Ashburner M.
Gelbart W.M.
Rubin G.M.
Lewis S.E.

title: Annotation of the Drosophila melanogaster euchromatic genome: a systematic review.

authors:
Kaminker J.S.
Bergman C.M.
Kronmiller B.
Carlson J.
Svirskas R.
Patel S.
Frise E.
Wheeler D.A.
Lewis S.E.
Rubin G.M.
Ashburner M.
Celniker S.E.

title: The transposable elements of the Drosophila melanogaster euchromatin: a genomics perspective.

authors:
Hoskins R.A.
Smith C.D.
Carlson J.W.
Carvalho A.B.
Halpern A.
Kaminker J.S.
Kennedy C.
Mungall C.J.
Sullivan B.A.
Sutton G.G.
Yasuhara J.C.
Wakimoto B.T.
Myers E.W.
Celniker S.E.
Rubin G.M.
Karpen G.H.

title: Heterochromatic sequences in a Drosophila whole-genome shotgun assembly.

authors:
Quesneville H.
Bergman C.M.
Andrieu O.
Autard D.
Nouaud D.
Ashburner M.
Anxolabehere D.

title: Combined evidence annotation of transposable elements in genome sequences.

authors:
Smith C.D.
Shu S.
Mungall C.J.
Karpen G.H.

title: The Release 5.1 annotation of Drosophila melanogaster heterochromatin.

authors:
Hoskins R.A.
Carlson J.W.
Kennedy C.
Acevedo D.
Evans-Holm M.
Frise E.
Wan K.H.
Park S.
Mendez-Lago M.
Rossi F.
Villasante A.
Dimitri P.
Karpen G.H.
Celniker S.E.

title: Sequence finishing and mapping of Drosophila melanogaster heterochromatin.

authors:
Matthews B.B.
Dos Santos G.
Crosby M.A.
Emmert D.B.
St Pierre S.E.
Gramates L.S.
Zhou P.
Schroeder A.J.
Falls K.
Strelets V.
Russo S.M.
Gelbart W.M.

title: Gene Model Annotations for Drosophila melanogaster: Impact of High-Throughput Data.

authors:
Crosby M.A.
Gramates L.S.
Dos Santos G.
Matthews B.B.
St Pierre S.E.
Zhou P.
Schroeder A.J.
Falls K.
Emmert D.B.
Russo S.M.
Gelbart W.M.

title: Gene Model Annotations for Drosophila melanogaster: The Rule-Benders.

authors:
Hoskins R.A.
Carlson J.W.
Wan K.H.
Park S.
Mendez I.
Galle S.E.
Booth B.W.
Pfeiffer B.D.
George R.A.
Svirskas R.
Krzywinski M.
Schein J.
Accardo M.C.
Damia E.
Messina G.
Mendez-Lago M.
de Pablos B.
Demakova O.V.
Andreyeva E.N.
Boldyreva L.V.
Marra M.
Carvalho A.B.
Dimitri P.
Villasante A.
Zhimulev I.F.
Rubin G.M.
Karpen G.H.
Celniker S.E.

title: The Release 6 reference sequence of the Drosophila melanogaster genome.

authors:
Tants J.N.
Fesser S.
Kern T.
Stehle R.
Geerlof A.
Wunderlich C.
Juen M.
Hartlmuller C.
Bottcher R.
Kunzelmann S.
Lange O.
Kreutz C.
Forstemann K.
Sattler M.

title: Molecular basis for asymmetry sensing of siRNAs by the Drosophila Loqs-PD/Dcr-2 complex in RNA interference.

value: Expressed in mid-late elongation-stage spermatid (Drosophila) in testis and 171 other cell types or tissues

value: P:dosage compensation by hyperactivation of X chromosome

value: P:female germ-line stem cell asymmetric division

value: P:germ-line stem cell population maintenance

value: P:regulation of regulatory ncRNA processing

value: Double-stranded RNA-binding protein Staufen homolog 1


source: EMBL

value: Uncharacterized protein

description: Glycosyl-hydrolase family 116 N-terminal

source: Pfam

description: Glycosyl-hydrolase family 116 catalytic region

journal: PLoS Comput. Biol.

journal: G3 (Bethesda)

value: Expressed in adult Malpighian tubule principal cell of lower segment in Malpighian tubule and 142 other cell types or tissues

value: F:hydrolase activity, hydrolyzing O-glycosyl compounds


value: Peptidase S1 domain-containing protein

value: Belongs to the peptidase S1 family. CLIP subfamily

value: Lacks conserved residue(s) required for the propagation of feature annotation

type: Signal

description: Peptidase S1 domain-containing protein

description: Peptidase S1

value: Expressed in adult Malpighian tubule principal cell of initial segment in Malpighian tubule and 18 other cell types or tissues