Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
The protein composition of mitotic chromosomes determined using multiclassifier combinatorial proteomics.
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Large-scale proteomic + GFP imaging screen of mitotic chromosomes that nicknamed GPATCH11 "CENP-Y" and assigned it a kinetochore localization from a single low-resolution image.
"Indeed, of 34 GFP-tagged predicted chromosomal proteins, 30 were chromosomal, including 13 with centromere-association."
A proteome-scale map of the human interactome network.
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High-throughput Y2H interactome from which IntAct curated GPATCH11 binding partners SDCBP (O00560) and ADGRB3 (O60242); GPATCH11 is not individually discussed in the text (pairs are in the supplementary data).
"we describe a systematic map of ?14,000 high-quality human binary protein-protein interactions"
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.
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GPATCH11 localizes diffusely in the nucleoplasm and at the centrosome; no kinetochore signal reported.
"a subcellular localization of GPATCH11 characterized by a diffuse presence in the nucleoplasm, as well as centrosomal localization"
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GPATCH11 loss-of-function causes mis-splicing and dysregulated photoreceptor / cilia-related gene expression in patient cells and a mouse model.
"Proteomic analysis of mouse retina confirms the roles GPATCH11 plays in RNA processing, splicing, and transcription regulation"
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Biallelic loss-of-function variants (recurrent c.328+1G>T removing the G-patch domain) cause a syndrome of early-onset retinal dystrophy with neurological impairment and craniofacial/skeletal features.
"biallelic GPATCH11 variants are responsible for a syndrome characterized by early-onset-severe retinal degeneration, neurological symptoms, and abnormal craniofacial features"
GPATCH11 ortholog Sap34 regulates pre-mRNA splicing by interacting with early spliceosomal complexes in Schizosaccharomyces pombe.
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The S. pombe GPATCH11 ortholog Sap34 binds U2 snRNP and U4/U6·U5 tri-snRNP components and activates DEAH-box helicase Prp43 via its G-patch domain.
"Sap34 forms a complex with components of the U2 small nuclear ribonucleoprotein (snRNP) and the U4/U6 × U5 tri-snRNP, which are required for early spliceosome assembly and activation"
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Loss of Sap34 causes a global reduction in splicing efficiency with increased intron retention.
"deletion of sap34 leads to a global reduction in splicing efficiency, predominantly associated with increased intron retention"
Falcon deep research report for GPATCH11
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GPATCH11 is a non-catalytic regulator of RNA metabolism predicted to act as a G-patch cofactor that binds and stimulates DEAH/RHA-box RNA helicases.
"GPATCH11 functions primarily as a regulator of RNA metabolism rather than as an enzyme with catalytic activity"
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Mouse retina transcriptomics show GPATCH11 loss alters hundreds of splicing events, supporting a pre-mRNA splicing role.
"Transcriptomic analysis of retinas from Gpatch11-mutant mice revealed 299 altered splicing events affecting 178 genes"
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GPATCH11 localizes to centrosomes during mitosis with no kinetochore/ centromere signal, indicating the CENP-Y alias is a misnomer.
"GPATCH11 localizes exclusively to centrosomes with no detectable localization at kinetochores or centromeres"