Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Gene Ontology annotation based on curation of immunofluorescence data
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Combined Automated Annotation using Multiple IEA Methods
Isolation of 10 differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase gene.
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.
CMT4A: identification of a Hispanic GDAP1 founder mutation.
Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.
Complete sequencing and characterization of 21,243 full-length human cDNAs.
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.
DNA sequence and analysis of human chromosome 8.
Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase.
Lysine acetylation targets protein complexes and co-regulates major cellular functions.
Defining the membrane proteome of NK cells.
The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.
Proteomic characterization of the human sperm nucleus.
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
Charcot-Marie-Tooth disease-associated mutants of GDAP1 dissociate its roles in peroxisomal and mitochondrial fission.
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
Discovery of novel vitamin D-regulated proteins in INS-1 cells: a proteomic approach.
USP30 and parkin homeostatically regulate atypical ubiquitin chains on mitochondria.
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.
Glutathione-conjugating and membrane-remodeling activity of GDAP1 relies on amphipathic C-terminal domain.
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Engineered human T288X conjugates glutathione to selected model substrates.
"GSH-conjugating activity for GDAP1 T288X"
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The longer engineered T318X protein lacked detectable GST activity in the tested conditions.
"did not display detectable GST activity"
Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.
Structural and functional divergence of GDAP1 from the glutathione S-transferase superfamily.
A reference map of the human binary protein interactome.
Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains.
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.
Conformational plasticity in GDAP1's GST-like domain enables thapsic acid recognition.
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Direct ligand-binding and mutagenesis measurements implicate the canonical pocket; detailed closure is modeled and physiological ligand identity remains unresolved.
"thapsic acid binding activity is actually housed within the
canonical active site pocket"
PEX3:PEX19:class I PMP dissociates
PEX19:class I PMP binds PEX3
Class I peroxisomal membrane protein import
PEX19 binds class I peroxisomal membrane proteins
Transmembrane protein 218
Baculoviral IAP repeat-containing protein 5
Ganglioside-induced differentiation-associated protein 1
Phosphatidylserine lipase ABHD16A
Phosphatidylinositol 3-kinase regulatory subunit alpha
H(+)/Cl(-) exchange transporter 7
Inactive pancreatic lipase-related protein 1
Sperm acrosome membrane-associated protein 3
Survival motor neuron protein
ATP-dependent Clp protease proteolytic subunit, mitochondrial
Centrosomal protein of 55 kDa
IQ motif and SEC7 domain-containing protein 1
Spermatogenesis-associated protein 12
Keratin-associated protein 8-1
Palmitoyltransferase ZDHHC17
IQ motif and ubiquitin-like domain-containing protein
Vacuolar protein sorting-associated protein 37A
Ganglioside-induced differentiation-associated protein 1
StAR-related lipid transfer protein 4
Discoidin, CUB and LCCL domain-containing protein 2
Mitogen-activated protein kinase kinase kinase 5
S phase cyclin A-associated protein in the endoplasmic reticulum
Superkiller complex protein 8
Mth938 domain-containing protein
Deleted in azoospermia protein 3
Transmembrane protein 14B
Probable ATP-dependent RNA helicase DDX20
Bcl-2-related ovarian killer protein
BAR/IMD domain-containing adapter protein 2
MORF4 family-associated protein 1
TAGLN2 regulates T cell activation by stabilizing the actin cytoskeleton at the immunological synapse.
BOK Is a Non-canonical BCL-2 Family Effector of Apoptosis Regulated by ER-Associated Degradation.
GDAP1: selected original evidence