Linked Life Data

P48029

Source:http://identifiers.org/uniprot/P48029

Statements in which the resource exists.
SubjectPredicateObjectContext
http://identifiers.org/unip...rdf:typebiopax3:ProteinReferencelld:biopax3
http://identifiers.org/unip...biopax3:commentFUNCTION: Required for the uptake of creatine in muscles and brain. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=CRT1; IsoId=P48029-1; Sequence=Displayed; Name=2; Synonyms=CRT2, SLC6A8B; IsoId=P48029-2; Sequence=VSP_043917, VSP_043918, VSP_043919, VSP_043920; Name=3; Synonyms=SLC6A8C; IsoId=P48029-3; Sequence=VSP_043916; TISSUE SPECIFICITY: Predominantly expressed in skeletal muscle and kidney. Also found in brain, heart, colon, testis and prostate. DISEASE: Defects in SLC6A8 are the cause of X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]. XL-CDS causes developmental delay, hypotonia, mental retardation, seizures, short stature and midface hypoplasia. SIMILARITY: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A8 subfamily. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC6A8"; GENE SYNONYMS:SLC6A8. 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:commentSEQUENCE 635 AA; 70523 MW; 9FAFE100B2A5B845 CRC64;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: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:xrefurn:biopax:RelationshipXref...lld:biopax3
http://identifiers.org/unip...biopax3:xrefurn:biopax:UnificationXref:...lld:biopax3
http://identifiers.org/unip...biopax3:displayNameSC6A8_HUMANlld:biopax3
http://identifiers.org/unip...biopax3:nameCreatine transporter 1lld:biopax3
http://identifiers.org/unip...biopax3:nameSolute carrier family 6 member 8lld:biopax3
http://identifiers.org/unip...biopax3:nameCT1lld:biopax3
http://identifiers.org/unip...biopax3:nameSLC6A8lld: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:sequenceMAKKSAENGIYSVSGDEKKGPLIAPGPDGAPAKGDGPVGLGTPGGRLAVPPRETWTRQMDFIMSCVGFAVGLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFFLEISLGQFMKAGSINVWNICPLFKGLGYASMVIVFYCNTYYIMVLAWGFYYLVKSFTTTLPWATCGHTWNTPDCVEIFRHEDCANASLANLTCDQLADRRSPVIEFWENKVLRLSGGLEVPGALNWEVTLCLLACWVLVYFCVWKGVKSTGKIVYFTATFPYVVLVVLLVRGVLLPGALDGIIYYLKPDWSKLGSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFNNNCYKDAIILALINSGTSFFAGFVVFSILGFMAAEQGVHISKVAESGPGLAFIAYPRAVTLMPVAPLWAALFFFMLLLLGLDSQFVGVEGFITGLLDLLPASYYFRFQREISVALCCALCFVIDLSMVTDGGMYVFQLFDYYSASGTTLLWQAFWECVVVAWVYGADRFMDDIACMIGYRPCPWMKWCWSFFTPLVCMGIFIFNVVYYEPLVYNNTYVYPWWGEAMGWAFALSSMLCVPLHLLGCLLRAKGTMAERWQHLTQPIWGLHHLEYRAQDADVRGLTTLTPVSESSKVVVVESVMlld:biopax3
http://identifiers.org/unip...biopax3:standardNameSodium- and chloride-dependent creatine transporter 1lld:biopax3
http://biocyc.org/biopax/bi...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://PATHWAYCOMMONS.ORG/P...biopax3:entityReferencehttp://identifiers.org/unip...lld:biopax3
http://www.pantherdb.org/pa...biopax3:memberEntityReferen...http://identifiers.org/unip...lld:biopax3