RAB3GAP1

Protein identityUniProt · HPA

UniProt accession

Q15042

Gene

RAB3GAP1

Ensembl

ENSG00000115839

Chromosome

2

Canonical length

981 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]

Canonical amino-acid sequenceUniProt

981 residues, UniProt reviewed canonical sequence.

>Q15042|RAB3GAP1
     1  MAADSEPESE VFEITDFTTA SEWERFISKV EEVLNDWKLI GNSLGKPLEK GIFTSGTWEE
    61  KSDEISFADF KFSVTHHYLV QESTDKEGKD ELLEDVVPQS MQDLLGMNND FPPRAHCLVR
   121  WYGLREFVVI APAAHSDAVL SESKCNLLLS SVSIALGNTG CQVPLFVQIH HKWRRMYVGE
   181  CQGPGVRTDF EMVHLRKVPN QYTHLSGLLD IFKSKIGCPL TPLPPVSIAI RFTYVLQDWQ
   241  QYFWPQQPPD IDALVGGEVG GLEFGKLPFG ACEDPISELH LATTWPHLTE GIIVDNDVYS
   301  DLDPIQAPHW SVRVRKAENP QCLLGDFVTE FFKICRRKES TDEILGRSAF EEEGKETADI
   361  THALSKLTEP ASVPIHKLSV SNMVHTAKKK IRKHRGVEES PLNNDVLNTI LLFLFPDAVS
   421  EKPLDGTTST DNNNPPSESE DYNLYNQFKS APSDSLTYKL ALCLCMINFY HGGLKGVAHL
   481  WQEFVLEMRF RWENNFLIPG LASGPPDLRC CLLHQKLQML NCCIERKKAR DEGKKTSASD
   541  VTNIYPGDAG KAGDQLVPDN LKETDKEKGE VGKSWDSWSD SEEEFFECLS DTEELKGNGQ
   601  ESGKKGGPKE MANLRPEGRL YQHGKLTLLH NGEPLYIPVT QEPAPMTEDL LEEQSEVLAK
   661  LGTSAEGAHL RARMQSACLL SDMESFKAAN PGCSLEDFVR WYSPRDYIEE EVIDEKGNVV
   721  LKGELSARMK IPSNMWVEAW ETAKPIPARR QRRLFDDTRE AEKVLHYLAI QKPADLARHL
   781  LPCVIHAAVL KVKEEESLEN ISSVKKIIKQ IISHSSKVLH FPNPEDKKLE EIIHQITNVE
   841  ALIARARSLK AKFGTEKCEQ EEEKEDLERF VSCLLEQPEV LVTGAGRGHA GRIIHKLFVN
   901  AQRAAAMTPP EEELKRMGSP EERRQNSVSD FPPPAGREFI LRTTVPRPAP YSKALPQRMY
   961  SVLTKEDFRL AGAFSSDTSF F

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RAB3GAP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.34

Highest tissue expression

31 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RAB3GAP1.

Disease | AllUniProt

Conditions RAB3GAP1 is implicated in, by any mechanism.

• Warburg micro syndrome 1 (WARBM1) MIM:600118
• Martsolf syndrome 2 (MARTS2) MIM:619420

Disease | GeneticClinVar

79 pathogenic / likely-pathogenic of 634 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Warburg micro syndrome 1
• Martsolf syndrome 2
• RAB3GAP1-related disorder
• Inborn genetic diseases
• Autosomal recessive RAB3GAP1-related disorders

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.54

gnomAD pLI

0

gnomAD missense Z

1.18

DepMap mean gene effect

0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• brain development
• camera-type eye development
• establishment of protein localization to endoplasmic reticulum membrane
• excitatory postsynaptic potential
• face morphogenesis
• hypothalamus development
• lipid droplet organization
• positive regulation of autophagosome assembly
• positive regulation of endoplasmic reticulum tubular network organization
• positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization
• positive regulation of protein lipidation
• Rab protein signal transduction
• regulation of calcium ion-dependent exocytosis of neurotransmitter
• regulation of short-term neuronal synaptic plasticity

Molecular functions

• GTPase activator activity
• guanyl-nucleotide exchange factor activity
• small GTPase binding

Cellular components

• cis-Golgi network
• cytosol
• endoplasmic reticulum membrane
• endoplasmic reticulum tubular network
• extracellular exosome
• Golgi apparatus
• lipid droplet
• postsynapse
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• Rab3GAP catalytic subunit, conserved domain
• Rab3GAP catalytic subunit, C-terminal
• Rab3GAP catalytic subunit
• Rab3 GTPase-activating protein catalytic subunit
• Rab3 GTPase-activating protein catalytic subunit C-terminal

KeywordsUniProt

• Cataract
• Cytoplasm
• Endoplasmic reticulum
• Golgi apparatus
• GTPase activation
• Intellectual disability
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of RAB3GAP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DMXL2
• LMAN1
• RAB3GAP2
• VAPA
• VAPB