• Gene id: 5909

Gene Summary

• Gene Symbol: RAP1GAP   Gene   UCSC   Ensembl
• Aliases: RAP1GA1, RAP1GAP1, RAP1GAPII, RAPGAP
• Gene name: RAP1 GTPase activating protein
• Alternate names: rap1 GTPase-activating protein 1,
• Gene location: 1p36.12 (21669443: 21596220)     Exons: 31     NC_000001.11
• Gene summary(Entrez): This gene encodes a type of GTPase-activating-protein (GAP) that down-regulates the activity of the ras-related RAP1 protein. RAP1 acts as a molecular switch by cycling between an inactive GDP-bound form and an active GTP-bound form. The product of this g
• OMIM: 605071

Protein Summary

• Protein general information: P47736  
  • Name: Rap1 GTPase activating protein 1 (Rap1GAP) (Rap1GAP1)
  • Length: 663  
  • Mass: 73361
  • Tissue specificity: Significant expression seen in the brain, kidney and pancreas. Abundant in the cerebral cortex and expressed at much lower levels in the spinal cord. Not detected in the lymphoid tissues. {ECO
• Sequence:

  MIEKMQGSRMDEQRCSFPPPLKTEEDYIPYPSVHEVLGREGPFPLILLPQFGGYWIEGTNHEITSIPETEPLQSP
  TTKVKLECNPTARIYRKHFLGKEHFNYYSLDAALGHLVFSLKYDVIGDQEHLRLLLRTKCRTYHDVIPISCLTEF
  PNVVQMAKLVCEDVNVDRFYPVLYPKASRLIVTFDEHVISNNFKFGVIYQKLGQTSEEELFSTNEESPAFVEFLE
  FLGQKVKLQDFKGFRGGLDVTHGQTGTESVYCNFRNKEIMFHVSTKLPYTEGDAQQLQRKRHIGNDIVAVVFQDE
  NTPFVPDMIASNFLHAYVVVQAEGGGPDGPLYKVSVTARDDVPFFGPPLPDPAVFRKGPEFQEFLLTKLINAEYA
  CYKAEKFAKLEERTRAALLETLYEELHIHSQSMMGLGGDEDKMENGSGGGGFFESFKRVIRSRSQSMDAMGLSNK
  KPNTVSTSHSGSFAPNNPDLAKAAGISLIVPGKSPTRKKSGPFGSRRSSAIGIENIQEVQEKRESPPAGQKTPDS
  GHVSQEPKSENSSTQSSPEMPTTKNRAETAAQRAEALKDFSRSSSSASSFASVVEETEGVDGEDTGLESVSSSGT
  PHKRDSFIYSTWLEDSVSTTSGGSSPGPSRSPHPDAGKLGDPACPEIKIQLEASEQHMPQLGC

• Structural information:
  • Protein Domains: (1..1-)
    (/note="GoLoco-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00097-)
    (181..39-)
    (/note="Rap-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00165"-)
  • Interpro: IPR003109  IPR035974  IPR000331  
  • Prosite: PS50877 PS50085
  • PDB: 1SRQ 3BRW
  • PDBsum: 1SRQ 3BRW
  • STRING: ENSP00000434033
• Other Databases: GeneCards:  RAP1GAP  Malacards:  RAP1GAP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0043087	regulation of GTPase activity	IDA	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0017016	Ras GTPase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051056	regulation of small GTPase mediated signal transduction	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0030695	GTPase regulator activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005096	GTPase activator activity	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0007411	axon guidance	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:1903697	negative regulation of microvillus assembly	IMP	biological process
GO:0007165	signal transduction	NAS	biological process
GO:0003924	GTPase activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04015	Rap1 signaling pathway

Diseases

Associated diseases	References
Myelodysplastic syndrome	PMID:18551404
focal segmental glomerulosclerosis	PMID:24642466
pancreatic cancer	PMID:16424023
Melanoma	PMID:19147557
Bipolar disorder	PMID:16687443
thyroid gland papillary carcinoma	PMID:19066305
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq