• Gene id: 5921

Gene Summary

• Gene Symbol: RASA1   Gene   UCSC   Ensembl
• Aliases: CM-AVM, CMAVM, CMAVM1, GAP, PKWS, RASA, RASGAP, p120, p120GAP, p120RASGAP
• Gene name: RAS p21 protein activator 1
• Alternate names: ras GTPase-activating protein 1, RAS p21 protein activator (GTPase activating protein) 1, p120 RAS GTPase activating protein, triphosphatase-activating protein,
• Gene location: 5q14.3 (87267844: 87391925)     Exons: 26     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS f
• OMIM: 139150

Protein Summary

• Protein general information: P20936  
  • Name: Ras GTPase activating protein 1 (GAP) (GTPase activating protein) (RasGAP) (Ras p21 protein activator) (p120GAP)
  • Length: 1047  
  • Mass: 116403
  • Tissue specificity: In placental villi, detected only in the trophoblast layer (cytotrophoblast and syncytiotrophoblast). Not detected in stromal, endothelial or Hofbauer cells (at protein level). {ECO
• Sequence:

  MMAAEAGSEEGGPVTAGAGGGGAAAGSSAYPAVCRVKIPAALPVAAAPYPGLVETGVAGTLGGGAALGSEFLGAG
  SVAGALGGAGLTGGGTAAGVAGAAAGVAGAAVAGPSGDMALTKLPTSLLAETLGPGGGFPPLPPPPYLPPLGAGL
  GTVDEGDSLDGPEYEEEEVAIPLTAPPTNQWYHGKLDRTIAEERLRQAGKSGSYLIRESDRRPGSFVLSFLSQMN
  VVNHFRIIAMCGDYYIGGRRFSSLSDLIGYYSHVSCLLKGEKLLYPVAPPEPVEDRRRVRAILPYTKVPDTDEIS
  FLKGDMFIVHNELEDGWMWVTNLRTDEQGLIVEDLVEEVGREEDPHEGKIWFHGKISKQEAYNLLMTVGQVCSFL
  VRPSDNTPGDYSLYFRTNENIQRFKICPTPNNQFMMGGRYYNSIGDIIDHYRKEQIVEGYYLKEPVPMQDQEQVL
  NDTVDGKEIYNTIRRKTKDAFYKNIVKKGYLLKKGKGKRWKNLYFILEGSDAQLIYFESEKRATKPKGLIDLSVC
  SVYVVHDSLFGRPNCFQIVVQHFSEEHYIFYFAGETPEQAEDWMKGLQAFCNLRKSSPGTSNKRLRQVSSLVLHI
  EEAHKLPVKHFTNPYCNIYLNSVQVAKTHAREGQNPVWSEEFVFDDLPPDINRFEITLSNKTKKSKDPDILFMRC
  QLSRLQKGHATDEWFLLSSHIPLKGIEPGSLRVRARYSMEKIMPEEEYSEFKELILQKELHVVYALSHVCGQDRT
  LLASILLRIFLHEKLESLLLCTLNDREISMEDEATTLFRATTLASTLMEQYMKATATQFVHHALKDSILKIMESK
  QSCELSPSKLEKNEDVNTNLTHLLNILSELVEKIFMASEILPPTLRYIYGCLQKSVQHKWPTNTTMRTRVVSGFV
  FLRLICPAILNPRMFNIISDSPSPIAARTLILVAKSVQNLANLVEFGAKEPYMEGVNPFIKSNKHRMIMFLDELG
  NVPELPDTTEHSRTDLSRDLAALHEICVAHSDELRTLSNERGAQQHVLKKLLAITELLQQKQNQYTKTNDVR

• Structural information:
  • Protein Domains: (181..27-)
    (/note="SH2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191-)
    (279..34-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (351..44-)
    (/note="SH2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191-)
    (-)
  • Interpro: IPR000008  IPR035892  IPR028554  IPR011993  IPR001849   IPR039360  IPR035842  IPR023152  IPR001936  IPR035841  IPR035652  IPR008936  IPR000980  IPR036860  IPR036028  IPR001452  
  • Prosite: PS50004 PS50003 PS00509 PS50018 PS50001 PS50002
  • CDD: cd10354 cd10353 cd11788
  • PDB: 1WER 1WQ1 2GQI 2GSB 2J05 2J06 2M51 4FSS 6PXB 6PXC
  • PDBsum: 1WER 1WQ1 2GQI 2GSB 2J05 2J06 2M51 4FSS 6PXB 6PXC
  • DIP: 144
  • STRING: ENSP00000274376
• Other Databases: GeneCards:  RASA1  Malacards:  RASA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000281	mitotic cytokinesis	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0043087	regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0046580	negative regulation of Ras protein signal transduction	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005096	GTPase activator activity	TAS	molecular function
GO:0005096	GTPase activator activity	EXP	molecular function
GO:0000165	MAPK cascade	TAS	biological process
GO:0003924	GTPase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001726	ruffle	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0001784	phosphotyrosine residue binding	IPI	molecular function
GO:0001784	phosphotyrosine residue binding	IPI	molecular function
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0001953	negative regulation of cell-matrix adhesion	IDA	biological process
GO:0007162	negative regulation of cell adhesion	IDA	biological process
GO:0007165	signal transduction	IDA	biological process
GO:0030833	regulation of actin filament polymerization	IDA	biological process
GO:0048514	blood vessel morphogenesis	IMP	biological process
GO:0001570	vasculogenesis	ISS	biological process
GO:0051020	GTPase binding	IPI	molecular function
GO:0035556	intracellular signal transduction	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051252	regulation of RNA metabolic process	NAS	biological process
GO:0008360	regulation of cell shape	NAS	biological process
GO:0043524	negative regulation of neuron apoptotic process	ISS	biological process
GO:0019870	potassium channel inhibitor activity	NAS	molecular function
GO:0005737	cytoplasm	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway
hsa04014	Ras signaling pathway
hsa04360	Axon guidance

Diseases

Associated diseases	References
Capillary malformation-arteriovenous malformation	KEGG:H02043
Parkes Weber syndrome	KEGG:H00532
Capillary malformation-arteriovenous malformation	KEGG:H02043
Parkes Weber syndrome	KEGG:H00532
Arteriovenous malformation	PMID:15917201
basal cell carcinoma	PMID:8275088
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881