• Gene id: 23637

Gene Summary

• Gene Symbol: RABGAP1   Gene   UCSC   Ensembl
• Aliases: GAPCENA, TBC1D11
• Gene name: RAB GTPase activating protein 1
• Alternate names: rab GTPase-activating protein 1, GAP and centrosome-associated protein, Rab6 GTPase activating protein, GAPCenA, TBC1 domain family, member 11, rab6 GTPase activating protein (GAP and centrosome-associated), rab6 GTPase-activating protein GAPCenA,
• Gene location: 9q33.2-q33.3 (122910594: 122913110)     Exons: 3     NC_000010.11
• OMIM: 615882

Protein Summary

• Protein general information: Q9Y3P9  
  • Name: Rab GTPase activating protein 1 (GAP and centrosome associated protein) (Rab6 GTPase activating protein GAPCenA)
  • Length: 1069  
  • Mass: 121737
• Sequence:

  MDDKASVGKISVSSDSVSTLNSEDFVLVSRQGDETPSTNNGSDDEKTGLKIVGNGSEQQLQKELADVLMDPPMDD
  QPGEKELVKRSQLDGEGDGPLSNQLSASSTINPVPLVGLQKPEMSLPVKPGQGDSEASSPFTPVADEDSVVFSKL
  TYLGCASVNAPRSEVEALRMMSILRSQCQISLDVTLSVPNVSEGIVRLLDPQTNTEIANYPIYKILFCVRGHDGT
  PESDCFAFTESHYNAELFRIHVFRCEIQEAVSRILYSFATAFRRSAKQTPLSATAAPQTPDSDIFTFSVSLEIKE
  DDGKGYFSAVPKDKDRQCFKLRQGIDKKIVIYVQQTTNKELAIERCFGLLLSPGKDVRNSDMHLLDLESMGKSSD
  GKSYVITGSWNPKSPHFQVVNEETPKDKVLFMTTAVDLVITEVQEPVRFLLETKVRVCSPNERLFWPFSKRSTTE
  NFFLKLKQIKQRERKNNTDTLYEVVCLESESERERRKTTASPSVRLPQSGSQSSVIPSPPEDDEEEDNDEPLLSG
  SGDVSKECAEKILETWGELLSKWHLNLNVRPKQLSSLVRNGVPEALRGEVWQLLAGCHNNDHLVEKYRILITKES
  PQDSAITRDINRTFPAHDYFKDTGGDGQDSLYKICKAYSVYDEEIGYCQGQSFLAAVLLLHMPEEQAFSVLVKIM
  FDYGLRELFKQNFEDLHCKFYQLERLMQEYIPDLYNHFLDISLEAHMYASQWFLTLFTAKFPLYMVFHIIDLLLC
  EGISVIFNVALGLLKTSKDDLLLTDFEGALKFFRVQLPKRYRSEENAKKLMELACNMKISQKKLKKYEKEYHTMR
  EQQAQQEDPIERFERENRRLQEANMRLEQENDDLAHELVTSKIALRKDLDNAEEKADALNKELLMTKQKLIDAEE
  EKRRLEEESAQLKEMCRRELDKAESEIKKNSSIIGDYKQICSQLSERLEKQQTANKVEIEKIRQKVDDCERCREF
  FNKEGRVKGISSTKEVLDEDTDEEKETLKNQLREMELELAQTKLQLVEAECKIQDLEHHLGLALNEVQAAKKTWF
  NRTLSSIKTATGVQGKETC

• Structural information:
  • Protein Domains: (142..29-)
    (/note="PID-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00148-)
    (566..75-)
    (/note="Rab-GAP-TBC)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00163"-)
  • Interpro: IPR022164  IPR011993  IPR006020  IPR000195  IPR035969   IPR033185  
  • Prosite: PS01179 PS50086
  • PDB: 4NC6
  • PDBsum: 4NC6
  • STRING: ENSP00000362751
• Other Databases: GeneCards:  RABGAP1  Malacards:  RABGAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090630	activation of GTPase activity	IBA	biological process
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0006886	intracellular protein transport	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:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005096	GTPase activator activity	TAS	molecular function
GO:0015631	tubulin binding	TAS	molecular function
GO:0005875	microtubule associated complex	TAS	cellular component
GO:0005813	centrosome	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0043087	regulation of GTPase activity	IDA	biological process
GO:1902017	regulation of cilium assembly	IMP	NOT|biological process
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881