• Gene id: 22930

Gene Summary

• Gene Symbol: RAB3GAP1   Gene   UCSC   Ensembl
• Aliases: P130, RAB3GAP, RAB3GAP130, WARBM1
• Gene name: RAB3 GTPase activating protein catalytic subunit 1
• Alternate names: rab3 GTPase-activating protein catalytic subunit, RAB3 GTPase activating protein subunit 1 (catalytic), RAB3 GTPase-activating protein 130 kDa subunit, rab3-GAP p130,
• Gene location: 2q21.3 (135052280: 135176666)     Exons: 28     NC_000002.12
• Gene summary(Entrez): 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 media
• OMIM: 131195

Protein Summary

• Protein general information: Q15042  
  • Name: Rab3 GTPase activating protein catalytic subunit (RAB3 GTPase activating protein 130 kDa subunit) (Rab3 GAP p130) (Rab3 GAP)
  • Length: 981  
  • Mass: 110524
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MAADSEPESEVFEITDFTTASEWERFISKVEEVLNDWKLIGNSLGKPLEKGIFTSGTWEEKSDEISFADFKFSVT
  HHYLVQESTDKEGKDELLEDVVPQSMQDLLGMNNDFPPRAHCLVRWYGLREFVVIAPAAHSDAVLSESKCNLLLS
  SVSIALGNTGCQVPLFVQIHHKWRRMYVGECQGPGVRTDFEMVHLRKVPNQYTHLSGLLDIFKSKIGCPLTPLPP
  VSIAIRFTYVLQDWQQYFWPQQPPDIDALVGGEVGGLEFGKLPFGACEDPISELHLATTWPHLTEGIIVDNDVYS
  DLDPIQAPHWSVRVRKAENPQCLLGDFVTEFFKICRRKESTDEILGRSAFEEEGKETADITHALSKLTEPASVPI
  HKLSVSNMVHTAKKKIRKHRGVEESPLNNDVLNTILLFLFPDAVSEKPLDGTTSTDNNNPPSESEDYNLYNQFKS
  APSDSLTYKLALCLCMINFYHGGLKGVAHLWQEFVLEMRFRWENNFLIPGLASGPPDLRCCLLHQKLQMLNCCIE
  RKKARDEGKKTSASDVTNIYPGDAGKAGDQLVPDNLKETDKEKGEVGKSWDSWSDSEEEFFECLSDTEELKGNGQ
  ESGKKGGPKEMANLRPEGRLYQHGKLTLLHNGEPLYIPVTQEPAPMTEDLLEEQSEVLAKLGTSAEGAHLRARMQ
  SACLLSDMESFKAANPGCSLEDFVRWYSPRDYIEEEVIDEKGNVVLKGELSARMKIPSNMWVEAWETAKPIPARR
  QRRLFDDTREAEKVLHYLAIQKPADLARHLLPCVIHAAVLKVKEEESLENISSVKKIIKQIISHSSKVLHFPNPE
  DKKLEEIIHQITNVEALIARARSLKAKFGTEKCEQEEEKEDLERFVSCLLEQPEVLVTGAGRGHAGRIIHKLFVN
  AQRAAAMTPPEEELKRMGSPEERRQNSVSDFPPPAGREFILRTTVPRPAPYSKALPQRMYSVLTKEDFRLAGAFS
  SDTSFF

• Structural information:
  • Interpro: IPR026147  
  • STRING: ENSP00000411418
• Other Databases: GeneCards:  RAB3GAP1  Malacards:  RAB3GAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061646	positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization	ISS	biological process
GO:0043547	positive regulation of GTPase activity	ISS	biological process
GO:1903233	regulation of calcium ion-dependent exocytosis of neurotransmitter	ISS	biological process
GO:0060079	excitatory postsynaptic potential	ISS	biological process
GO:0048172	regulation of short-term neuronal synaptic plasticity	ISS	biological process
GO:0043547	positive regulation of GTPase activity	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0034389	lipid droplet organization	IMP	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0048172	regulation of short-term neuronal synaptic plasticity	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0061646	positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization	IEA	biological process
GO:1903233	regulation of calcium ion-dependent exocytosis of neurotransmitter	IEA	biological process
GO:0021854	hypothalamus development	IMP	biological process
GO:0043010	camera-type eye development	IMP	biological process
GO:0060325	face morphogenesis	IMP	biological process
GO:0007420	brain development	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005811	lipid droplet	IDA	cellular component
GO:2000786	positive regulation of autophagosome assembly	IMP	biological process
GO:1903061	positive regulation of protein lipidation	IMP	biological process
GO:0098794	postsynapse	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0071782	endoplasmic reticulum tubular network	IDA	cellular component
GO:0043087	regulation of GTPase activity	IDA	biological process
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0097051	establishment of protein localization to endoplasmic reticulum membrane	IMP	biological process
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0043547	positive regulation of GTPase activity	IMP	biological process
GO:0005096	GTPase activator activity	IMP	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:1903373	positive regulation of endoplasmic reticulum tubular network organization	IMP	biological process
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IMP	contributes to

Diseases

Associated diseases	References
Warburg micro syndrome	KEGG:H00792
Warburg micro syndrome	KEGG:H00792
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881