Linked Life Data

Q07889

Source:http://identifiers.org/uniprot/Q07889

Statements in which the resource exists.
SubjectPredicateObjectContext
http://identifiers.org/unip...rdf:typebiopax3:ProteinReferencelld:biopax3
http://identifiers.org/unip...biopax3:commentSEQUENCE 1333 AA; 152464 MW; C6B99CCA11A8DE45 CRC64;lld:biopax3
http://identifiers.org/unip...biopax3:commentFUNCTION: Promotes the exchange of Ras-bound GDP by GTP. SUBUNIT: Interacts with GRB2. Forms a complex with phosphorylated MUC1 and GRB2 (via its SH3 domains). Interacts with phosphorylated LAT2. Interacts with NCK1 and NCK2. TISSUE SPECIFICITY: Expressed in gingival tissues. DISEASE: Defects in SOS1 are the cause of gingival fibromatosis 1 (GGF1) [MIM:135300]; also known as GINGF1. Gingival fibromatosis is a rare overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva. GGF1 is usually transmitted as an autosomal dominant trait, although sporadic cases are common. DISEASE: Defects in SOS1 are the cause of Noonan syndrome type 4 (NS4) [MIM:610733]. NS4 is an autosomal dominant disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis. It is a genetically heterogeneous and relatively common syndrome, with an estimated incidence of 1 in 1000-2500 live births. Rarely, NS4 is associated with juvenile myelomonocytic leukemia (JMML). SOS1 mutations engender a high prevalence of pulmonary valve disease; atrial septal defects are less common. SIMILARITY: Contains 1 DH (DBL-homology) domain. SIMILARITY: Contains 1 N-terminal Ras-GEF domain. SIMILARITY: Contains 1 PH domain. SIMILARITY: Contains 1 Ras-GEF domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SOS1"; WEB RESOURCE: Name=Wikipedia; Note=Son of sevenless entry; URL="http://en.wikipedia.org/wiki/Son_of_Sevenless"; GENE SYNONYMS:SOS1. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.lld:biopax3
http://identifiers.org/unip...biopax3:xrefurn:biopax:UnificationXref:...lld:biopax3
http://identifiers.org/unip...biopax3:xrefurn:biopax:RelationshipXref...lld:biopax3
http://identifiers.org/unip...biopax3:xrefurn:biopax:RelationshipXref...lld:biopax3
http://identifiers.org/unip...biopax3:xrefurn:biopax:UnificationXref:...lld:biopax3
http://identifiers.org/unip...biopax3:xrefurn:biopax:RelationshipXref...lld:biopax3
http://identifiers.org/unip...biopax3:displayNameSOS1_HUMANlld:biopax3
http://identifiers.org/unip...biopax3:nameSOS1lld:biopax3
http://identifiers.org/unip...biopax3:nameSOS-1lld:biopax3
http://identifiers.org/unip...biopax3:entityFeatureurn:biopax:ModificationFeat...lld:biopax3
http://identifiers.org/unip...biopax3:entityFeatureurn:biopax:ModificationFeat...lld:biopax3
http://identifiers.org/unip...biopax3:entityFeatureurn:biopax:ModificationFeat...lld:biopax3
http://identifiers.org/unip...biopax3:entityFeatureurn:biopax:ModificationFeat...lld:biopax3
http://identifiers.org/unip...biopax3:entityFeatureurn:biopax:ModificationFeat...lld:biopax3
http://identifiers.org/unip...biopax3:entityFeatureurn:biopax:ModificationFeat...lld:biopax3
http://identifiers.org/unip...biopax3:organismhttp://identifiers.org/taxo...lld:biopax3
http://identifiers.org/unip...biopax3:sequenceMQAQQLPYEFFSEENAPKWRGLLVPALKKVQGQVHPTLESNDDALQYVEELILQLLNMLCQAQPRSASDVEERVQKSFPHPIDKWAIADAQSAIEKRKRRNPLSLPVEKIHPLLKEVLGYKIDHQVSVYIVAVLEYISADILKLVGNYVRNIRHYEITKQDIKVAMCADKVLMDMFHQDVEDINILSLTDEEPSTSGEQTYYDLVKAFMAEIRQYIRELNLIIKVFREPFVSNSKLFSANDVENIFSRIVDIHELSVKLLGHIEDTVEMTDEGSPHPLVGSCFEDLAEELAFDPYESYARDILRPGFHDRFLSQLSKPGAALYLQSIGEGFKEAVQYVLPRLLLAPVYHCLHYFELLKQLEEKSEDQEDKECLKQAITALLNVQSGMEKICSKSLAKRRLSESACRFYSQQMKGKQLAIKKMNEIQKNIDGWEGKDIGQCCNEFIMEGTLTRVGAKHERHIFLFDGLMICCKSNHGQPRLPGASNAEYRLKEKFFMRKVQINDKDDTNEYKHAFEIILKDENSVIFSAKSAEEKNNWMAALISLQYRSTLERMLDVTMLQEEKEEQMRLPSADVYRFAEPDSEENIIFEENMQPKAGIPIIKAGTVIKLIERLTYHMYADPNFVRTFLTTYRSFCKPQELLSLIIERFEIPEPEPTEADRIAIENGDQPLSAELKRFRKEYIQPVQLRVLNVCRHWVEHHFYDFERDAYLLQRMEEFIGTVRGKAMKKWVESITKIIQRKKIARDNGPGHNITFQSSPPTVEWHISRPGHIETFDLLTLHPIEIARQLTLLESDLYRAVQPSELVGSVWTKEDKEINSPNLLKMIRHTTNLTLWFEKCIVETENLEERVAVVSRIIEILQVFQELNNFNGVLEVVSAMNSSPVYRLDHTFEQIPSRQKKILEEAHELSEDHYKKYLAKLRSINPPCVPFFGIYLTNILKTEEGNPEVLKRHGKELINFSKRRKVAEITGEIQQYQNQPYCLRVESDIKRFFENLNPMGNSMEKEFTDYLFNKSLEIEPRNPKPLPRFPKKYSYPLKSPGVRPSNPRPGTMRHPTPLQQEPRKISYSRIPESETESTASAPNSPRTPLTPPPASGASSTTDVCSVFDSDHSSPFHSSNDTVFIQVTLPHGPRSASVSSISLTKGTDEVPVPPPVPPRRRPESAPAESSPSKIMSKHLDSPPAIPPRQPTSKAYSPRYSISDRTSISDPPESPPLLPPREPVRTPDVFSSSPLHLQPPPLGKKSDHGNAFFPNSPSPFTPPPPQTPSPHGTRRHLPSPPLTQEVDLHSIAGPPVPPRQSTSQHIPKLPPKTYKREHTHPSMHRDGPPLLENAHSSlld:biopax3
http://identifiers.org/unip...biopax3:standardNameSon of sevenless homolog 1lld:biopax3
http://pid.nci.nih.gov/biop...biopax3:entityReferencehttp://identifiers.org/unip...lld:biopax3
http://pid.nci.nih.gov/biop...biopax3:entityReferencehttp://identifiers.org/unip...lld:biopax3
HTTP://PATHWAYCOMMONS.ORG/P...biopax3:entityReferencehttp://identifiers.org/unip...lld:biopax3
http://www.reactome.org/bio...biopax3:entityReferencehttp://identifiers.org/unip...lld:biopax3
http://pid.nci.nih.gov/biop...biopax3:entityReferencehttp://identifiers.org/unip...lld:biopax3
http://pid.nci.nih.gov/biop...biopax3:entityReferencehttp://identifiers.org/unip...lld:biopax3
http://www.phosphosite.org/...biopax3:entityReferencehttp://identifiers.org/unip...lld:biopax3
http://pid.nci.nih.gov/biop...biopax3:entityReferencehttp://identifiers.org/unip...lld:biopax3
http://www.reactome.org/bio...biopax3:entityReferencehttp://identifiers.org/unip...lld:biopax3
http://www.reactome.org/bio...biopax3:entityReferencehttp://identifiers.org/unip...lld:biopax3
http://www.phosphosite.org/...biopax3:entityReferencehttp://identifiers.org/unip...lld:biopax3
http://pid.nci.nih.gov/biop...biopax3:entityReferencehttp://identifiers.org/unip...lld:biopax3
http://pid.nci.nih.gov/biop...biopax3:entityReferencehttp://identifiers.org/unip...lld:biopax3
http://pid.nci.nih.gov/biop...biopax3:entityReferencehttp://identifiers.org/unip...lld:biopax3
http://www.phosphosite.org/...biopax3:entityReferencehttp://identifiers.org/unip...lld:biopax3
http://www.phosphosite.org/...biopax3:entityReferencehttp://identifiers.org/unip...lld:biopax3
http://www.phosphosite.org/...biopax3:entityReferencehttp://identifiers.org/unip...lld:biopax3
http://pid.nci.nih.gov/biop...biopax3:entityReferencehttp://identifiers.org/unip...lld:biopax3
http://pid.nci.nih.gov/biop...biopax3:entityReferencehttp://identifiers.org/unip...lld:biopax3
http://pid.nci.nih.gov/biop...biopax3:entityReferencehttp://identifiers.org/unip...lld:biopax3
http://www.phosphosite.org/...biopax3:entityReferencehttp://identifiers.org/unip...lld:biopax3
http://www.pantherdb.org/pa...biopax3:memberEntityReferen...http://identifiers.org/unip...lld:biopax3
http://www.pantherdb.org/pa...biopax3:memberEntityReferen...http://identifiers.org/unip...lld:biopax3
http://www.pantherdb.org/pa...biopax3:memberEntityReferen...http://identifiers.org/unip...lld:biopax3