RAB3A
entrez
5864
canonical
uniprot
P20336
canonical
ensembl
ENSG00000105649
resolver
ensp
ENSP00000222256
resolver
ensp
ENSP00000573523
resolver
ensp
ENSP00000573524
resolver
ensp
ENSP00000590185
resolver
enst
ENST00000222256
resolver
enst
ENST00000903464
resolver
enst
ENST00000903465
resolver
enst
ENST00000920126
resolver
genesymbol
RAB3A
resolver
hgnc
HGNC:9777
resolver
uniprot
A0A024R7I7
resolver
uniprot
A8K0J4
resolver
uniprot
Q9NYE1
resolver
uniprot_entry
A0A024R7I7_HUMAN
resolver
uniprot_entry
RAB3A_HUMAN
resolver
uniprot_sec
A8K0J4
resolver
uniprot_sec
Q9NYE1
resolver
activity_regulation
ACTIVITY REGULATION: Regulated by guanine nucleotide exchange factors (GEFs) including RAB3IL1 and MADD which promote the exchange of bound GDP for free GTP (PubMed:20937701). Regulated by GTPase activating proteins (GAPs) including RAB3GAP1 and TBC1D10B which increase the GTP hydrolysis activity (PubMed:10859313, PubMed:19077034). Inhibited by GDP dissociation inhibitors (GDIs) which prevent Rab-GDP dissociation (Probable). {ECO:0000269|PubMed:10859313, ECO:0000269|PubMed:19077034, ECO:0000269|PubMed:20937701, ECO:0000305}.
uniprot
proteins
amino_acid_sequence
MASATDSRYGQKESSDQNFDYMFKILIIGNSSVGKTSFLFRYADDSFTPAFVSTVGIDFKVKTIYRNDKRIKLQIWDTAGQERYRTITTAYYRGAMGFILMYDITNEESFNAVQDWSTQIKTYSWDNAQVLLVGNKCDMEDERVVSSERGRQLADHLGFEFFEASAKDNINVKQTFERLVDVICEKMSESLDTADPAVTGAKQGPQLSDQQVPPHQDCAC
uniprot
proteins
disease_involvement
DISEASE: Spinocerebellar ataxia 52 (SCA52) [MIM:621535]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA52 is an autosomal dominant form characterized by slowly progressive cerebellar ataxia with onset of symptoms usually between the third and fifth decades. Mild cognitive deficits and/or neuropsychiatric features may be present, usually later in the disease course. {ECO:0000269|PubMed:40166812, ECO:0000269|PubMed:41092193, ECO:0000269|PubMed:41492970}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.5.2
uniprot
proteins
function
FUNCTION: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (PubMed:2501306). Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:2501306). RAB3A plays a central role in regulated exocytosis and secretion. Controls the recruitment, tethering and docking of secretory vesicles to the plasma membrane (PubMed:2501306). Upon stimulation, switches to its active GTP-bound form, cycles to vesicles and recruits effectors such as RIMS1, RIMS2, Rabphilin-3A/RPH3A, RPH3AL or SYTL4 to help the docking of vesicules onto the plasma membrane (By similarity). Upon GTP hydrolysis by GTPase-activating protein, dissociates from the vesicle membrane allowing the exocytosis to proceed (By similarity). Stimulates insulin secretion through interaction with RIMS2 or RPH3AL effectors in pancreatic beta cells (By similarity). Regulates calcium-dependent lysosome exocytosis and plasma membrane repair (PMR) via the interaction with 2 effectors, SYTL4 and myosin-9/MYH9 (PubMed:27325790). Acts as a positive regulator of acrosome content secretion in sperm cells by interacting with RIMS1 (PubMed:22248876, PubMed:30599141). Also plays a role in the regulation of dopamine release by interacting with synaptotagmin I/SYT (By similarity). {ECO:0000250|UniProtKB:P63011, ECO:0000250|UniProtKB:P63012, ECO:0000269|PubMed:22248876, ECO:0000269|PubMed:2501306, ECO:0000269|PubMed:27325790, ECO:0000269|PubMed:30599141}.
uniprot
proteins
mass_dalton
24984
uniprot
proteins
mutagenesis
MUTAGEN 61; /note="V->N: No change in REP15 binding affinity."; /evidence="ECO:0000269|PubMed:35871249"; MUTAGEN 84; /note="Y->F: Decreased REP15 binding affinity."; /evidence="ECO:0000269|PubMed:35871249"; MUTAGEN 86; /note="T->A: Loss of phosphorylation."; /evidence="ECO:0000269|PubMed:29125462"; MUTAGEN 86; /note="T->E: Phosphomimetic mutant. Loss of GDI1, GDI2, CHM and CHML binding."; /evidence="ECO:0000269|PubMed:29125462
uniprot
proteins
post_translational_modification
PTM: Phosphorylation of Thr-86 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including CHM, CHML and RAB GDP dissociation inhibitors GDI1 and GDI2. {ECO:0000269|PubMed:29125462}.
uniprot
proteins
protein_family
Rab family
uniprot
proteins
protein_family
Small GTPase superfamily
uniprot
proteins
pubmed
10574328
uniprot
proteins
pubmed
10859313
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15207266
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1648736
uniprot
proteins
pubmed
19077034
uniprot
proteins
pubmed
20937701
uniprot
proteins
pubmed
22248876
uniprot
proteins
pubmed
2501306
uniprot
proteins
pubmed
26824392
uniprot
proteins
pubmed
27325790
uniprot
proteins
pubmed
29125462
uniprot
proteins
pubmed
30599141
uniprot
proteins
pubmed
35871249
uniprot
proteins
pubmed
40166812
uniprot
proteins
pubmed
41092193
uniprot
proteins
pubmed
41492970
uniprot
proteins
pubmed
7991565
uniprot
proteins
sequence_length
220
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:P63012}. Lysosome {ECO:0000269|PubMed:27325790}. Cytoplasmic vesicle, secretory vesicle {ECO:0000250|UniProtKB:P63012}. Cell projection, axon {ECO:0000250|UniProtKB:P63011}. Cell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Presynapse {ECO:0000250|UniProtKB:P63011}. Postsynapse {ECO:0000250|UniProtKB:P63011}. Note=Cycles between a vesicle-associated GTP-bound form and a cytosolic GDP-bound form. {ECO:0000250|UniProtKB:P63012}.
uniprot
proteins