RAB3GAP1
entrez
22930
canonical
uniprot
Q15042
canonical
ensembl
ENSG00000115839
resolver
ensp
ENSP00000264158
resolver
ensp
ENSP00000411418
resolver
ensp
ENSP00000444306
resolver
ensp
ENSP00000708184
resolver
enst
ENST00000539493
resolver
genesymbol
RAB3GAP1
resolver
genesymbol_syn
KIAA0066
resolver
genesymbol_syn
RAB3GAP
resolver
hgnc
HGNC:17063
resolver
uniprot
A0A8J9AUI2
resolver
uniprot
A6H8Z3
resolver
uniprot
B9A6J2
resolver
uniprot
C9J837
resolver
uniprot
Q659F5
resolver
uniprot
Q8TBB4
resolver
uniprot_entry
A0A8J9AUI2_HUMAN
resolver
uniprot_entry
B9A6J2_HUMAN
resolver
uniprot_entry
RB3GP_HUMAN
resolver
uniprot_sec
A6H8Z3
resolver
uniprot_sec
C9J837
resolver
uniprot_sec
Q659F5
resolver
uniprot_sec
Q8TBB4
resolver
amino_acid_sequence
MAADSEPESEVFEITDFTTASEWERFISKVEEVLNDWKLIGNSLGKPLEKGIFTSGTWEEKSDEISFADFKFSVTHHYLVQESTDKEGKDELLEDVVPQSMQDLLGMNNDFPPRAHCLVRWYGLREFVVIAPAAHSDAVLSESKCNLLLSSVSIALGNTGCQVPLFVQIHHKWRRMYVGECQGPGVRTDFEMVHLRKVPNQYTHLSGLLDIFKSKIGCPLTPLPPVSIAIRFTYVLQDWQQYFWPQQPPDIDALVGGEVGGLEFGKLPFGACEDPISELHLATTWPHLTEGIIVDNDVYSDLDPIQAPHWSVRVRKAENPQCLLGDFVTEFFKICRRKESTDEILGRSAFEEEGKETADITHALSKLTEPASVPIHKLSVSNMVHTAKKKIRKHRGVEESPLNNDVLNTILLFLFPDAVSEKPLDGTTSTDNNNPPSESEDYNLYNQFKSAPSDSLTYKLALCLCMINFYHGGLKGVAHLWQEFVLEMRFRWENNFLIPGLASGPPDLRCCLLHQKLQMLNCCIERKKARDEGKKTSASDVTNIYPGDAGKAGDQLVPDNLKETDKEKGEVGKSWDSWSDSEEEFFECLSDTEELKGNGQESGKKGGPKEMANLRPEGRLYQHGKLTLLHNGEPLYIPVTQEPAPMTEDLLEEQSEVLAKLGTSAEGAHLRARMQSACLLSDMESFKAANPGCSLEDFVRWYSPRDYIEEEVIDEKGNVVLKGELSARMKIPSNMWVEAWETAKPIPARRQRRLFDDTREAEKVLHYLAIQKPADLARHLLPCVIHAAVLKVKEEESLENISSVKKIIKQIISHSSKVLHFPNPEDKKLEEIIHQITNVEALIARARSLKAKFGTEKCEQEEEKEDLERFVSCLLEQPEVLVTGAGRGHAGRIIHKLFVNAQRAAAMTPPEEELKRMGSPEERRQNSVSDFPPPAGREFILRTTVPRPAPYSKALPQRMYSVLTKEDFRLAGAFSSDTSFF
uniprot
proteins
disease_involvement
DISEASE: Warburg micro syndrome 1 (WARBM1) [MIM:600118]: A rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism. {ECO:0000269|PubMed:15696165, ECO:0000269|PubMed:23420520, ECO:0000269|PubMed:24891604, ECO:0000269|PubMed:30730599}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Martsolf syndrome 2 (MARTS2) [MIM:619420]: An autosomal recessive disorder characterized by congenital cataracts, mildly to severely impaired intellectual development, and facial dysmorphism. Other features include brain malformations, microcephaly, and hypogonadism-hypogenitalism. {ECO:0000269|PubMed:30730599}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Catalytic subunit of the Rab3 GTPase-activating (Rab3GAP) complex composed of RAB3GAP1 and RAB3GAP2, which accelerates the otherwise slow GTP hydrolysis catalyzed by Rab proteins (PubMed:9030515, PubMed:10859313, PubMed:39779760). Has GTPase-activating protein (GAP) activity towards various Rab3 subfamily members (RAB3A, RAB3B, RAB3C and RAB3D), RAB5A and RAB43 (PubMed:10859313, PubMed:9030515, PubMed:39779760). Additionally, it has guanine nucleotide exchange factor (GEF) activity towards RAB18, promoting GDP release from RAB18 and the conversion of inactive RAB18-GDP to the active form RAB18-GTP (PubMed:24891604, PubMed:39779760). Recruits and stabilizes RAB18 at the cis-Golgi membrane in fibroblasts where RAB18 is most likely activated (PubMed:26063829). Also involved in RAB18 recruitment at the endoplasmic reticulum (ER) membrane where it maintains proper ER structure (PubMed:24891604). Required for normal eye and brain development (PubMed:15696165, PubMed:23420520). May participate in neurodevelopmental processes such as cell proliferation, migration and differentiation before synapse formation, and is involved in regulating non-synaptic vesicular release of neurotransmitters (PubMed:9030515, PubMed:9852129). {ECO:0000269|PubMed:10859313, ECO:0000269|PubMed:15696165, ECO:0000269|PubMed:23420520, ECO:0000269|PubMed:24891604, ECO:0000269|PubMed:26063829, ECO:0000269|PubMed:39779760, ECO:0000269|PubMed:9030515, ECO:0000269|PubMed:9852129}.
uniprot
proteins
mass_dalton
110524
uniprot
proteins
mutagenesis
MUTAGEN 618..748; /note="Missing: Loss of GAP activity towards RAB3A. Retains GEF activity towards RAB18."; /evidence="ECO:0000269|PubMed:39779760"; MUTAGEN 619; /note="R->A: No effect."; /evidence="ECO:0000269|PubMed:10859313"; MUTAGEN 700; /note="R->A: No effect."; /evidence="ECO:0000269|PubMed:10859313"; MUTAGEN 728; /note="R->A: Loss of GAP activity."; /evidence="ECO:0000269|PubMed:10859313"; MUTAGEN 753; /note="R->A: No effect."; /evidence="ECO:0000269|PubMed:10859313
uniprot
proteins
protein_family
Rab3-GAP catalytic subunit family
uniprot
proteins
pubmed
10859313
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15696165
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22337587
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23420520
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24891604
uniprot
proteins
pubmed
26063829
uniprot
proteins
pubmed
30730599
uniprot
proteins
pubmed
39779760
uniprot
proteins
pubmed
7584044
uniprot
proteins
pubmed
9030515
uniprot
proteins
pubmed
9852129
uniprot
proteins
sequence_length
981
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24891604, ECO:0000269|PubMed:9852129}. Endoplasmic reticulum {ECO:0000269|PubMed:24891604}. Golgi apparatus, cis-Golgi network {ECO:0000269|PubMed:26063829}. Note=In neurons, enriched in the synaptic soluble fraction. Localized to the cis-Golgi in fibroblasts (PubMed:26063829). {ECO:0000269|PubMed:26063829, ECO:0000269|PubMed:9852129}.
uniprot
proteins