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MGP002586

UniProt Annotations

Entry Information
Gene NameRAS p21 protein activator (GTPase activating protein) 1
Protein EntryRASA1_HUMAN
UniProt IDP20936
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; Synonyms=Long; IsoId=P20936-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P20936-2; Sequence=VSP_001625, VSP_001626; Name=3; IsoId=P20936-3; Sequence=VSP_057434, VSP_057435; Note=No experimental confirmation available.; Name=4; IsoId=P20936-4; Sequence=VSP_057432, VSP_057433; Note=No experimental confirmation available.;
DiseaseCapillary malformation-arteriovenous malformation (CMAVM) [MIM:608354]: A disorder characterized by atypical capillary malformations that are multiple, small, round to oval in shape and pinkish red in color. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. {ECO:0000269|PubMed:14639529, ECO:0000269|PubMed:24038909}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNote=Mutations in the SH2 domain of RASA seem to be oncogenic and cause basal cell carcinomas.
DiseaseParkes Weber syndrome (PKWS) [MIM:608355]: Disorder characterized by a cutaneous flush with underlying multiple micro- arteriovenous fistulas, in association with soft tissue and skeletal hypertrophy of the affected limb. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInhibitory regulator of the Ras-cyclic AMP pathway. Stimulates the GTPase of normal but not oncogenic Ras p21; this stimulation may be further increased in the presence of NCK1. {ECO:0000269|PubMed:11389730, ECO:0000269|PubMed:8360177}.
InteractionQ8IZP0:ABI1; NbExp=2; IntAct=EBI-1026476, EBI-375446; P10275:AR; NbExp=16; IntAct=EBI-1026476, EBI-608057; P04632:CAPNS1; NbExp=3; IntAct=EBI-1026476, EBI-711828; Q96QB1:DLC1; NbExp=6; IntAct=EBI-1026476, EBI-2608428; P00533:EGFR; NbExp=7; IntAct=EBI-1026476, EBI-297353; P04626:ERBB2; NbExp=7; IntAct=EBI-1026476, EBI-641062; P21860:ERBB3; NbExp=6; IntAct=EBI-1026476, EBI-720706; Q13480:GAB1; NbExp=25; IntAct=EBI-1026476, EBI-517684; P10721:KIT; NbExp=16; IntAct=EBI-1026476, EBI-1379503; P08581:MET; NbExp=15; IntAct=EBI-1026476, EBI-1039152; P16333:NCK1; NbExp=6; IntAct=EBI-1026476, EBI-389883; P09619:PDGFRB; NbExp=3; IntAct=EBI-1026476, EBI-641237;
PtmPhosphorylated by SRC and LCK. The phosphorylation SRC inhibits its ability to stimulate the Ras-GTPase activity, whereas phosphorylation by LCK does not display any effect on stimulation activity. {ECO:0000269|PubMed:11389730, ECO:0000269|PubMed:15592455}.
PtmThe N-terminus is blocked.
SimilarityContains 1 C2 domain. {ECO:0000255|PROSITE- ProRule:PRU00041}.
SimilarityContains 1 PH domain. {ECO:0000255|PROSITE- ProRule:PRU00145}.
SimilarityContains 1 Ras-GAP domain. {ECO:0000255|PROSITE- ProRule:PRU00167}.
SimilarityContains 1 SH3 domain. {ECO:0000255|PROSITE- ProRule:PRU00192}.
SimilarityContains 2 SH2 domains. {ECO:0000255|PROSITE- ProRule:PRU00191}.
Subcellular LocationCytoplasm {ECO:0000269|PubMed:8360177}.
SubunitInteracts with SQSTM1. Interacts with SPSB1; the interaction does not promote degradation. Interacts with CAV2 (tyrosine phosphorylated form). Directly interacts with NCK1. Interacts with PDGFRB (tyrosine phosphorylated). Interacts (via SH2 domain) with the 'Tyr-9' phosphorylated form of PDPK1. {ECO:0000269|PubMed:12091389, ECO:0000269|PubMed:1375321, ECO:0000269|PubMed:15504032, ECO:0000269|PubMed:15713673, ECO:0000269|PubMed:18024423, ECO:0000269|PubMed:21664272, ECO:0000269|PubMed:8618896, ECO:0000269|PubMed:9219684}.
Tissue SpecificityIn placental villi, detected only in the trophoblast layer (cytotrophoblast and syncytiotrophoblast). Not detected in stromal, endothelial or Hofbauer cells (at protein level). {ECO:0000269|PubMed:8360177}.
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