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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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P20936 |
| Protein name |
Ras GTPase-activating protein 1 (GAP) (GTPase-activating protein) (RasGAP) (Ras p21 protein activator) (p120GAP) |
| Protein function |
Inhibitory 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. |
| PDB |
1WER
, 1WQ1
, 2GQI
, 2GSB
, 2J05
, 2J06
, 2M51
, 4FSS
, 6PXB
, 6PXC
, 6WAX
, 6WAY
, 8BOS
, 8DGQ
, 9BZ4
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00017 |
SH2 |
181 → 256 |
SH2 domain |
Domain |
| PF00018 |
SH3_1 |
285 → 333 |
SH3 domain |
Domain |
| PF00017 |
SH2 |
351 → 426 |
SH2 domain |
Domain |
| PF00169 |
PH |
475 → 577 |
PH domain |
Domain |
| PF00168 |
C2 |
594 → 692 |
C2 domain |
Domain |
| PF00616 |
RasGAP |
836 → 942 |
GTPase-activator protein for Ras-like GTPase |
Family |
|
| Tissue specificity |
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:0000269|PubMed:8360177}. |
| Sequence |
|
| Sequence length |
1047 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Angioosteohypertrophic syndrome |
Pathogenic |
rs772301300, rs1757679644, rs2112486988 |
RCV001526499 RCV001526500 RCV001526498 |
| Basal cell carcinoma, somatic |
Pathogenic |
rs137853214, rs137853215, rs137853216 |
RCV000017367 RCV000017368 RCV000017369 |
| Basal cell carcinoma, susceptibility to, 1 |
Pathogenic; Likely pathogenic |
rs863223718, rs60835976, rs1060503441, rs1060503440, rs1554044823, rs1204340475, rs1762099168 |
RCV000763548 RCV005040686 RCV002496786 RCV002481469 RCV000763547 RCV002507185 RCV001197461 |
| Capillary infantile hemangioma |
Pathogenic |
rs2112474795 |
RCV002254433 |
| Capillary malformation-arteriovenous malformation 1 |
Likely pathogenic; Pathogenic |
rs1761473319, rs1761580770, rs2112459497, rs2112421707, rs2112517213, rs2112487030, rs2112495617, rs2112500793, rs1561322754, rs2531355519, rs2531192062, rs863223718, rs878854569, rs2531373838, rs797044451, rs137853217, rs137853218, rs1348578241, rs1580386963, rs2531002584, rs60835976, rs1060503441, rs1060503439, rs1060503440, rs1554049394, rs1554049422, rs1554050230, rs1554044823, rs1554050584, rs1384480619, rs1554045819, rs983011713, rs1204340475, rs1561331089, rs1758886343, rs1758098122, rs1762098966, rs2112223281, rs1759083657 View all (24 more) |
RCV001335991 RCV001335992 RCV001733883 RCV001810328 RCV004594603 RCV002244561 RCV005863671 RCV002272869 RCV002285211 RCV002471416 RCV002470408 RCV000763548 RCV000232710 RCV004719389 RCV000017370 RCV000017372 RCV000017373 RCV000017374 RCV000017375 RCV003991718 RCV005040686 RCV002470865 RCV004559088 RCV002481469 RCV004003559 RCV005869581 RCV000553769 RCV000763547 RCV000558080 RCV004559250 RCV000627050 RCV002307569 RCV002507185 RCV000706831 RCV003322841 RCV001283723 RCV001283722 RCV001354043 RCV001269300 |
| Capillary malformation-arteriovenous malformation syndrome |
Pathogenic; Likely pathogenic |
rs1762099168, rs2112223349, rs2112369549, rs2112222433, rs751951068, rs2112485022, rs2112517308, rs2112525375, rs1396225514, rs2112223340, rs2112517213, rs2112486996, rs2112369561, rs2112366112, rs2112490726, rs2112500780, rs2112492304, rs2112431809, rs2112495772, rs2112495582, rs2112365844, rs2112456363, rs2112490719, rs2112495617, rs2531359826, rs2531187455, rs1753690583, rs2531194989, rs2531003684, rs2531002366, rs2531255948, rs2531362861, rs2112457150, rs2531002170, rs2531380191, rs863223718, rs2531339089, rs2531395817, rs2531003868, rs2531339000, rs1758886526, rs2531362827, rs2531256481, rs2531342144, rs2531003866, rs2531395894, rs878854569, rs878854570, rs886041232, rs886041400, rs2531225738, rs2531342060, rs2531304891, rs2531212164, rs2531194790, rs2531003739, rs1580418269, rs2531192349, rs2531212404, rs2531256358, rs2531304828, rs2531003517, rs2531359738, rs2531373838, rs2531373996, rs781291507, rs2531003856, rs2531304808, rs2531404919, rs2531396047, rs2531350156, rs2531396312, rs2531355164, rs886060843, rs2531187256, rs2531300001, rs2531003554, rs2531003398, rs797044451, rs137853218, rs750421671, rs1060503441, rs1060503439, rs1060503440, rs1060503438, rs1554048066, rs1554049394, rs1554048061, rs1554049422, rs1554050230, rs747745016, rs1554049825, rs1554044823, rs1384480619, rs201249348, rs983011713, rs1347210621, rs1204340475, rs1759404954, rs1561316757, rs1561333645, rs1561300506, rs975191415, rs1463885690, rs1210180190, rs1580394003, rs1561322357, rs1757588488, rs1758886343, rs1759087658, rs1759093156, rs1761469547, rs1361155142, rs1761160392, rs1757676761, rs1187087405, rs1760265136, rs1761341113, rs1762317272, rs1761473113, rs1761994695, rs1759410564, rs1753698267, rs1761153296, rs1760184679 View all (110 more) |
RCV005094382 RCV001378220 RCV001376839 RCV001388732 RCV001389350 RCV001380289 RCV001385020 RCV001381764 RCV005094795 RCV001866457 RCV001919825 RCV001878473 RCV002049066 RCV001958803 RCV002006121 RCV001937468 RCV002007328 RCV001962905 RCV002049925 RCV001877865 RCV002050167 RCV001972822 RCV003101395 RCV003094172 RCV003101707 RCV003079061 RCV002628544 RCV002811415 RCV002815483 RCV002815666 RCV002850941 RCV002863164 RCV002863344 RCV002908261 RCV002900326 RCV001853161 RCV002899334 RCV002941898 RCV002927403 RCV002975246 RCV003011090 RCV003015691 RCV003031018 RCV003031237 RCV003053499 RCV003046712 RCV003048388 RCV001382360 RCV002229344 RCV001060687 RCV005090328 RCV003594721 RCV003594798 RCV003594788 RCV003594814 RCV003595003 RCV003595551 RCV003595283 RCV003595598 RCV003595599 RCV003595600 RCV003593577 RCV003593612 RCV003593684 RCV003594334 RCV003594533 RCV003760889 RCV003760874 RCV003760737 RCV003760869 RCV003758233 RCV003760911 RCV003758420 RCV003758411 RCV003758358 RCV003758652 RCV003758606 RCV003759178 RCV003759505 RCV003760224 RCV002228029 RCV003764578 RCV003859198 RCV000468716 RCV002230639 RCV002230640 RCV002230638 RCV002527368 RCV003593977 RCV001232408 RCV001386102 RCV002231771 RCV002231768 RCV000533121 RCV002231775 RCV000640554 RCV002232790 RCV002232788 RCV002233116 RCV002232823 RCV002241651 RCV002233250 RCV002233425 RCV003758922 RCV001052132 RCV001855925 RCV002235551 RCV002234222 RCV003758955 RCV001059178 RCV001040542 RCV001063721 RCV001058236 RCV001040722 RCV001064155 RCV001055527 RCV001062257 RCV001225109 RCV001224362 RCV001225162 RCV001221578 RCV001212953 RCV001212783 RCV001216670 RCV001230539 RCV001241059 RCV001238578 |
| Cardiovascular phenotype |
Pathogenic; Likely pathogenic |
rs2112485022, rs2531341953, rs2531342144, rs2531350017, rs1762098966, rs2531187455, rs1753690583, rs863223718, rs2531360007, rs60835976, rs1554049422, rs1759093156 |
RCV002413910 RCV002421784 RCV002417357 RCV002446237 RCV002439993 RCV005714911 RCV006342857 RCV002415841 RCV003176467 RCV004516292 RCV005712191 RCV005470605 |
| Familial cancer of breast |
Pathogenic |
rs1761341362 |
RCV005909306 |
| Gorham-Stout disease |
Pathogenic |
rs797044451 |
RCV003156050 |
| Hereditary hemorrhagic telangiectasia |
Pathogenic |
rs1762317272 |
RCV002254337 |
| Neoplasm |
Pathogenic |
rs886041400 |
RCV006273695 |
| Nonpapillary renal cell carcinoma |
Likely pathogenic |
rs750421671 |
RCV005935087 |
| RASA1-related disorder |
Pathogenic; Likely pathogenic |
rs886041400, rs2531324128, rs2531187229, rs2531338258, rs1761341362, rs2531404825, rs2531304601, rs137853218, rs747745016, rs1463885690, rs1762317272 |
RCV003401226 RCV003391404 RCV003402574 RCV003402094 RCV003412412 RCV003404578 RCV003391552 RCV003894810 RCV003983112 RCV003396325 RCV004743333 |
| See cases |
Pathogenic |
rs2112474880 |
RCV002252817 |
| Vascular malformation |
Pathogenic |
rs2531339000, rs137853218, rs1463885690 |
RCV005251333 RCV003458336 RCV003458513 |
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign |
rs6888938, rs36000817 |
RCV005919417 RCV005893435 |
| Cerebral venous angioma |
Uncertain significance |
rs1761158478 |
RCV001257396 |
| Cervical cancer |
Benign |
rs6888938, rs36000817 |
RCV005919418 RCV005893439 |
| Cholangiocarcinoma |
Benign |
rs36000817 |
RCV005893443 |
| Chronic lymphocytic leukemia/small lymphocytic lymphoma |
Benign |
rs36000817 |
RCV005893446 |
| Colon adenocarcinoma |
Likely benign |
rs1580325656 |
RCV005926782 |
| Familial pancreatic carcinoma |
Benign |
rs36000817 |
RCV005893440 |
| Gastric cancer |
Benign; Likely benign; Uncertain significance |
rs6888938, rs200197533, rs60835976, rs753769946 |
RCV005919419 RCV005899019 RCV005870660 RCV005908997 |
| Hepatocellular carcinoma |
Benign |
rs36000817 |
RCV005893436 |
| Hydrops fetalis |
Uncertain significance |
rs1761158478 |
RCV001257396 |
| Lung cancer |
Uncertain significance; Benign |
rs377099473, rs36000817 |
RCV005923950 RCV005893444 |
| Lymphoma |
Benign |
rs36000817 |
RCV005893441 |
| Malignant tumor of esophagus |
Likely benign; Benign |
rs933452101, rs36000817, rs60835976 |
RCV005926147 RCV005893437 RCV005870658 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs6888938, rs36000817 |
RCV005919420 RCV005893442 |
| Parkes Weber syndrome |
Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance |
rs111840875, rs36000817, rs184201084, rs371042291, rs200002693, rs781285667, rs778801311, rs886060840, rs138785106, rs149730288, rs886060843, rs886060846, rs116868431, rs192141756, rs182603054, rs149279711, rs137878395, rs140707293, rs200197533, rs886060842, rs374889193, rs886060838, rs146525982, rs763970609, rs187379673, rs150779406, rs145752649, rs552498036, rs372498033, rs886060845, rs191725379, rs543819845, rs201705926, rs886060850, rs755788420, rs553059467, rs769463654, rs377014568, rs181630831, rs202147617, rs886060841, rs886060844, rs770822619, rs115086172, rs886060847, rs183575968, rs886060848 View all (32 more) |
RCV000279612 RCV000301492 RCV000325671 RCV000269463 RCV000268284 RCV000321783 RCV000296505 RCV000261406 RCV000343253 RCV000396388 RCV000350994 RCV000264266 RCV000374124 RCV000266380 RCV000331895 RCV000367624 RCV000393247 RCV000387224 RCV000289574 RCV000383929 RCV000306095 RCV000400820 RCV000326908 RCV000393238 RCV000361365 RCV000259976 RCV000342211 RCV000331764 RCV000284664 RCV000368389 RCV000373324 RCV000294167 RCV000262695 RCV000332841 RCV000377938 RCV000371706 RCV000310250 RCV000304263 RCV000290542 RCV000302639 RCV000371204 RCV000311341 RCV000362673 RCV000323019 RCV000335005 RCV000393369 RCV000307148 RCV000364112 |
| Thymoma |
Likely benign; Benign |
rs115868378, rs187379673 |
RCV005917496 RCV005899017 |
| Uterine corpus endometrial carcinoma |
Likely benign; Uncertain significance; Benign |
rs115868378, rs377099473, rs36000817, rs60835976 |
RCV005917497 RCV005923951 RCV005893445 RCV005870661 |
|
| Disease Name |
Relationship Type |
References |
| Arteriovenous Fistula |
Associate |
29891884 |
| Arteriovenous Malformations |
Associate |
29891884 |
| Atrioventricular Block |
Associate |
24139535 |
| Breast Neoplasms |
Associate |
24347041, 32635943 |
| Calcinosis Cutis |
Associate |
24347041 |
| Capillary Malformation Arteriovenous Malformation |
Associate |
14639529, 18446851, 20007727, 23933248, 29024832, 29110021, 29891884, 30026675, 32635776, 32635943, 36980822, 40526942 |
| Carcinoma Hepatocellular |
Inhibit |
24443565 |
| Carcinoma Hepatocellular |
Associate |
26126858 |
| Carcinoma Non Small Cell Lung |
Associate |
29127119, 29343556, 37390335 |
| Carcinoma Squamous Cell |
Associate |
25303977, 27158780, 32434476 |
| Colorectal Neoplasms |
Associate |
24465899 |
| Diabetic Nephropathies |
Associate |
36585417 |
| Dystonic Disorders |
Associate |
36002837 |
| Familial cerebral cavernous malformation |
Associate |
34491620 |
| Fistula |
Associate |
24139535 |
| Gastro enteropancreatic neuroendocrine tumor |
Associate |
26684240 |
| Genetic Diseases Inborn |
Associate |
40526942 |
| Headache |
Associate |
24139535 |
| Heart Defects Congenital |
Associate |
36002837 |
| Heart Failure |
Associate |
36002837 |
| Hemangioma Cavernous |
Associate |
24139535 |
| Hydrops Fetalis |
Associate |
35397126 |
| Hypoxia |
Associate |
26126858 |
| Inflammation |
Associate |
32434476 |
| Intracranial Arteriovenous Malformations |
Associate |
14639529, 18446851, 20007727, 28687708 |
| Intracranial Hemorrhages |
Associate |
34491620 |
| Leukemia |
Associate |
15284113, 8245773 |
| Leukemia Myelogenous Chronic BCR ABL Positive |
Associate |
8195713, 8245773 |
| Lung Diseases |
Associate |
27158780 |
| Lung Neoplasms |
Associate |
29343556 |
| Lymphatic Metastasis |
Associate |
27101583 |
| Lymphedema and Cerebral Arteriovenous Anomaly |
Associate |
20007727 |
| Melanoma |
Associate |
26502337 |
| Mitochondrial Diseases |
Stimulate |
17510315 |
| Mouth Diseases |
Associate |
29024832 |
| Multifocal Choroiditis |
Associate |
20007727 |
| Myelodysplastic Syndromes |
Inhibit |
26521017 |
| Nausea |
Associate |
24139535 |
| Neoplasms |
Associate |
17510315, 19151751, 24347041, 25008324, 25303977, 26392535, 27137215, 29127119, 30927944, 37995182, 38275291 |
| Neoplasms |
Inhibit |
19372580, 24443565, 25486365, 26008146, 26502337 |
| Neoplastic Syndromes Hereditary |
Associate |
29891884 |
| Neurofibromatosis 1 |
Associate |
23082153 |
| No Reflow Phenomenon |
Associate |
18446851 |
| Pancreatic Neoplasms |
Associate |
26747707, 27137215 |
| Pentalogy of Cantrell |
Associate |
36980822 |
| Philadelphia Chromosome |
Associate |
8195713 |
| Prostate Cancer Hereditary 7 |
Associate |
25939597 |
| Prostatic Neoplasms |
Associate |
25189356, 25939597 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
28435450 |
| Sturge Weber Syndrome |
Associate |
14639529, 18446851, 22402795, 29891884, 32843429 |
| Telangiectasia Hereditary Hemorrhagic |
Associate |
28687708 |
| Thyroid Neoplasms |
Associate |
26008146, 38275291 |
| Triple Negative Breast Neoplasms |
Associate |
25202123, 34168046 |
| Trophoblastic Neoplasms |
Inhibit |
7747802 |
| Uterine Cervical Neoplasms |
Associate |
27101583 |
| Vascular Diseases |
Associate |
18446851, 25939597, 32843429 |
| Vascular Malformations |
Associate |
24139535 |
| Vein of Galen aneurysm |
Associate |
18446851 |
| Vomiting |
Associate |
24139535 |
|