RAB3GAP2
entrez
25782
canonical
uniprot
Q9H2M9
canonical
ensembl
ENSG00000118873
resolver
ensp
ENSP00000351832
resolver
genesymbol
RAB3GAP2
resolver
genesymbol_syn
KIAA0839
resolver
hgnc
HGNC:17168
resolver
uniprot
A6H8V0
resolver
uniprot
O75872
resolver
uniprot
Q9HAB0
resolver
uniprot
Q9UFJ7
resolver
uniprot
Q9UQ15
resolver
uniprot_entry
RBGPR_HUMAN
resolver
uniprot_sec
A6H8V0
resolver
uniprot_sec
O75872
resolver
uniprot_sec
Q9HAB0
resolver
uniprot_sec
Q9UFJ7
resolver
uniprot_sec
Q9UQ15
resolver
amino_acid_sequence
MACSIVQFCYFQDLQAARDFLFPHLREEILSGALRRDPSKSTDWEDDGWGAWEENEPQEPEEEGNTCKTQKTSWLQDCVLSLSPTNDLMVIAREQKAVFLVPKWKYSDKGKEEMQFAVGWSGSLNVEEGECVTSALCIPLASQKRSSTGRPDWTCIVVGFTSGYVRFYTENGVLLLAQLLNEDPVLQLKCRTYEIPRHPGVTEQNEELSILYPAAIVTIDGFSLFQSLRACRNQVAKAAASGNENIQPPPLAYKKWGLQDIDTIIDHASVGIMTLSPFDQMKTASNIGGFNAAIKNSPPAMSQYITVGSNPFTGFFYALEGSTQPLLSHVALAVASKLTSALFNAASGWLGWKSKHEEEAVQKQKPKVEPATPLAVRFGLPDSRRHGESICLSPCNTLAAVTDDFGRVILLDVARGIAIRMWKGYRDAQIGWIQTVEDLHERVPEKADFSPFGNSQGPSRVAQFLVIYAPRRGILEVWSTQQGPRVGAFNVGKHCRLLYPGYKIMGLNNVTSQSWQPQTYQICLVDPVSGSVKTVNVPFHLALSDKKSERAKDMHLVKKLAALLKTKSPNLDLVETEIKELILDIKYPATKKQALESILASERLPFSCLRNITQTLMDTLKSQELESVDEGLLQFCANKLKLLQLYESVSQLNSLDFHLDTPFSDNDLALLLRLDEKELLKLQALLEKYKQENTRTNVRFSDDKDGVLPVKTFLEYLEYEKDVLNIKKISEEEYVALGSFFFWKCLHGESSTEDMCHTLESAGLSPQLLLSLLLSVWLSKEKDILDKPQSICCLHTMLSLLSKMKVAIDETWDSQSVSPWWQQMRTACIQSENNGAALLSAHVGHSVAAQISNNMTEKKFSQTVLGADSEALTDSWEALSLDTEYWKLLLKQLEDCLILQTLLHSKGNTQTSKVSSLQAEPLPRLSVKKLLEGGKGGIADSVAKWIFKQDFSPEVLKLANEERDAENPDEPKEGVNRSFLEVSEMEMDLGAIPDLLHLAYEQFPCSLELDVLHAHCCWEYVVQWNKDPEEARFFVRSIEHLKQIFNAHVQNGIALMMWNTFLVKRFSAATYLMDKVGKSPKDRLCRRDVGMSDTAMTSFLGSCLDLLQILMEADVSRDEIQVPVLDTEDAWLSVEGPISIVELALEQKHIHYPLVEHHSILCSILYAVMRFSLKTVKPLSLFDSKGKNAFFKDLTSIQLLPSGEMDPNFISVRQQFLLKVVSAAVQAQHSATKVKDPTEEATPTPFGKDQDWPALAVDLAHHLQVSEDVVRRHYVGELYNYGVDHLGEEAILQVHDKEVLASQLLVLTGQRLAHALLHTQTKEGMELLARLPPTLCTWLKAMDPQDLQNTEVPIATTAKLVNKVIELLPEKHGQYGLALHLIEAVEAISLPSL
uniprot
proteins
disease_involvement
DISEASE: Martsolf syndrome 1 (MARTS1) [MIM:212720]: An autosomal recessive disease characterized by congenital cataracts, intellectual disability, and hypogonadism. {ECO:0000269|PubMed:16532399, ECO:0000269|PubMed:23420520, ECO:0000269|PubMed:24891604}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Warburg micro syndrome 2 (WARBM2) [MIM:614225]: A rare 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:20967465}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulatory 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:9733780, PubMed:39779760). The complex has GTPase-activating protein (GAP) activity towards various Rab3 subfamily members (RAB3A, RAB3B, RAB3C and RAB3D), RAB5A and RAB43, and has guanine nucleotide exchange factor (GEF) activity towards RAB18 (PubMed:9733780, PubMed:39779760, PubMed:24891604). The Rab3GAP complex acts as a GEF for RAB18 by promoting GDP release from RAB18 and the conversion of inactive RAB18-GDP to the active form RAB18-GTP (PubMed:39779760, PubMed:24891604). Recruits and stabilizes RAB18 at the cis-Golgi membrane in human 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 (By similarity). May participate in neurodevelopmental processes such as cell proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters (By similarity). {ECO:0000250|UniProtKB:Q15042, ECO:0000269|PubMed:24891604, ECO:0000269|PubMed:26063829, ECO:0000269|PubMed:9733780}.
uniprot
proteins
mass_dalton
155985
uniprot
proteins
protein_family
Rab3-GAP regulatory subunit family
uniprot
proteins
pubmed
10048485
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16532399
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20967465
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22337587
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23420520
uniprot
proteins
pubmed
24891604
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26063829
uniprot
proteins
pubmed
39779760
uniprot
proteins
pubmed
9733780
uniprot
proteins
sequence_length
1393
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q5U1Z0}. Endoplasmic reticulum {ECO:0000305|PubMed:24891604}. Note=In neurons, it is enriched in the synaptic soluble fraction. {ECO:0000250|UniProtKB:Q5U1Z0}.
uniprot
proteins