RASA1
entrez
5921
canonical
uniprot
P20936
canonical
ensembl
ENSG00000145715
resolver
ensp
ENSP00000274376
resolver
ensp
ENSP00000411221
resolver
genesymbol
RASA1
resolver
genesymbol_syn
GAP
resolver
genesymbol_syn
RASA
resolver
hgnc
HGNC:9871
resolver
uniprot
B2R6W3
resolver
uniprot
B4DTL2
resolver
uniprot
Q59GK3
resolver
uniprot
Q68CU6
resolver
uniprot
Q9UDI1
resolver
uniprot_entry
Q59GK3_HUMAN
resolver
uniprot_entry
RASA1_HUMAN
resolver
uniprot_sec
B2R6W3
resolver
uniprot_sec
B4DTL2
resolver
uniprot_sec
Q68CU6
resolver
uniprot_sec
Q9UDI1
resolver
amino_acid_sequence
MMAAEAGSEEGGPVTAGAGGGGAAAGSSAYPAVCRVKIPAALPVAAAPYPGLVETGVAGTLGGGAALGSEFLGAGSVAGALGGAGLTGGGTAAGVAGAAAGVAGAAVAGPSGDMALTKLPTSLLAETLGPGGGFPPLPPPPYLPPLGAGLGTVDEGDSLDGPEYEEEEVAIPLTAPPTNQWYHGKLDRTIAEERLRQAGKSGSYLIRESDRRPGSFVLSFLSQMNVVNHFRIIAMCGDYYIGGRRFSSLSDLIGYYSHVSCLLKGEKLLYPVAPPEPVEDRRRVRAILPYTKVPDTDEISFLKGDMFIVHNELEDGWMWVTNLRTDEQGLIVEDLVEEVGREEDPHEGKIWFHGKISKQEAYNLLMTVGQVCSFLVRPSDNTPGDYSLYFRTNENIQRFKICPTPNNQFMMGGRYYNSIGDIIDHYRKEQIVEGYYLKEPVPMQDQEQVLNDTVDGKEIYNTIRRKTKDAFYKNIVKKGYLLKKGKGKRWKNLYFILEGSDAQLIYFESEKRATKPKGLIDLSVCSVYVVHDSLFGRPNCFQIVVQHFSEEHYIFYFAGETPEQAEDWMKGLQAFCNLRKSSPGTSNKRLRQVSSLVLHIEEAHKLPVKHFTNPYCNIYLNSVQVAKTHAREGQNPVWSEEFVFDDLPPDINRFEITLSNKTKKSKDPDILFMRCQLSRLQKGHATDEWFLLSSHIPLKGIEPGSLRVRARYSMEKIMPEEEYSEFKELILQKELHVVYALSHVCGQDRTLLASILLRIFLHEKLESLLLCTLNDREISMEDEATTLFRATTLASTLMEQYMKATATQFVHHALKDSILKIMESKQSCELSPSKLEKNEDVNTNLTHLLNILSELVEKIFMASEILPPTLRYIYGCLQKSVQHKWPTNTTMRTRVVSGFVFLRLICPAILNPRMFNIISDSPSPIAARTLILVAKSVQNLANLVEFGAKEPYMEGVNPFIKSNKHRMIMFLDELGNVPELPDTTEHSRTDLSRDLAALHEICVAHSDELRTLSNERGAQQHVLKKLLAITELLQQKQNQYTKTNDVR
uniprot
proteins
disease_involvement
DISEASE: Note=Mutations in the SH2 domain of RASA seem to be oncogenic and cause basal cell carcinomas.; DISEASE: Capillary malformation-arteriovenous malformation 1 (CMAVM1) [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. CMAVM1 inheritance is autosomal dominant. {ECO:0000269|PubMed:14639529, ECO:0000269|PubMed:24038909}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: GTPase-activating protein (GAP) that stimulates the intrinsic GTPase activity of Ras proteins, such as NRAS, facilitating their transition from the active GTP-bound state to the inactive GDP-bound state, thereby terminating Ras signaling. {ECO:0000269|PubMed:11389730, ECO:0000269|PubMed:2123878, ECO:0000269|PubMed:3201259, ECO:0000269|PubMed:8360177}.
uniprot
proteins
mass_dalton
116403
uniprot
proteins
post_translational_modification
PTM: The N-terminus is blocked.; PTM: Phosphorylated 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}.
uniprot
proteins
pubmed
11389730
uniprot
proteins
pubmed
12091389
uniprot
proteins
pubmed
1375321
uniprot
proteins
pubmed
14639529
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15504032
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
15713673
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18024423
uniprot
proteins
pubmed
2123878
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21664272
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24038909
uniprot
proteins
pubmed
30578106
uniprot
proteins
pubmed
3201259
uniprot
proteins
pubmed
8137811
uniprot
proteins
pubmed
8275088
uniprot
proteins
pubmed
8360177
uniprot
proteins
pubmed
8618896
uniprot
proteins
pubmed
8955277
uniprot
proteins
pubmed
9219684
uniprot
proteins
sequence_length
1047
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:8360177}.
uniprot
proteins