InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RAB3GAP1

Summary

InnateDB Protein

IDBP-70730.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RAB3GAP1

Protein Name

RAB3 GTPase activating protein subunit 1 (catalytic)

Synonyms

P130; RAB3GAP; RAB3GAP130; WARBM1;

Species

Homo sapiens

Ensembl Protein

ENSP00000264158

InnateDB Gene

IDBG-70728 (RAB3GAP1)

Protein Structure

UniProt Annotation

Function

Probable catalytic subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters. {ECO:0000269PubMed:10859313, ECO:0000269PubMed:9030515}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:9852129}. Note=In neurons, it is enriched in the synaptic soluble fraction.

Disease Associations

Warburg micro syndrome 1 (WARBM1) [MIM:600118]: A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. {ECO:0000269PubMed:15696165}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous. {ECO:0000269PubMed:9030515}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	21 [view]
Protein-Protein	21 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005097	Rab GTPase activator activity
GO:0017137	Rab GTPase binding

Biological Process

GO:0007420	brain development
GO:0021854	hypothalamus development
GO:0032851	positive regulation of Rab GTPase activity
GO:0034389	lipid particle organization
GO:0043010	camera-type eye development
GO:0043087	regulation of GTPase activity
GO:0060325	face morphogenesis