Linked Life Data

P49748

Source:http://identifiers.org/uniprot/P49748

Statements in which the resource exists.
SubjectPredicateObjectContext
http://identifiers.org/unip...rdf:typebiopax3:ProteinReferencelld:biopax3
http://identifiers.org/unip...biopax3:commentSEQUENCE 655 AA; 70390 MW; A5594D1EA7911D19 CRC64;lld:biopax3
http://identifiers.org/unip...biopax3:commentFUNCTION: Active toward esters of long-chain and very long chain fatty acids such as palmitoyl-CoA, mysritoyl-CoA and stearoyl-CoA. Can accommodate substrate acyl chain lengths as long as 24 carbons, but shows little activity for substrates of less than 12 carbons. CATALYTIC ACTIVITY: Acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor. COFACTOR: FAD. PATHWAY: Lipid metabolism; mitochondrial fatty acid beta- oxidation. SUBUNIT: Homodimer. SUBCELLULAR LOCATION: Mitochondrion inner membrane. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P49748-1; Sequence=Displayed; Name=2; IsoId=P49748-2; Sequence=VSP_007734; Note=No experimental confirmation available; DISEASE: Defects in ACADVL are the cause of acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]. ACADVLD is an autosomal recessive disease which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form, with early onset, high mortality, and high incidence of cardiomyopathy; a milder childhood form, with later onset, usually with hypoketotic hypoglycemia as the main presenting feature, low mortality, and rare cardiomyopathy; and an adult form, with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria, usually triggered by exercise or fasting. MISCELLANEOUS: A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues. SIMILARITY: Belongs to the acyl-CoA dehydrogenase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACADVL"; GENE SYNONYMS:ACADVL VLCAD. 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:xrefurn:biopax:RelationshipXref...lld:biopax3
http://identifiers.org/unip...biopax3:xrefurn:biopax:UnificationXref:...lld:biopax3
http://identifiers.org/unip...biopax3:displayNameACADV_HUMANlld:biopax3
http://identifiers.org/unip...biopax3:name1.3.99.-lld:biopax3
http://identifiers.org/unip...biopax3:nameVLCADlld:biopax3
http://identifiers.org/unip...biopax3:nameACADVLlld: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:sequenceMQAARMAASLGRQLLRLGGGSSRLTALLGQPRPGPARRPYAGGAAQLALDKSDSHPSDALTRKKPAKAESKSFAVGMFKGQLTTDQVFPYPSVLNEEQTQFLKELVEPVSRFFEEVNDPAKNDALEMVEETTWQGLKELGAFGLQVPSELGGVGLCNTQYARLVEIVGMHDLGVGITLGAHQSIGFKGILLFGTKAQKEKYLPKLASGETVAAFCLTEPSSGSDAASIRTSAVPSPCGKYYTLNGSKLWISNGGLADIFTVFAKTPVTDPATGAVKEKITAFVVERGFGGITHGPPEKKMGIKASNTAEVFFDGVRVPSENVLGEVGSGFKVAMHILNNGRFGMAAALAGTMRGIIAKAVDHATNRTQFGEKIHNFGLIQEKLARMVMLQYVTESMAYMVSANMDQGATDFQIEAAISKIFGSEAAWKVTDECIQIMGGMGFMKEPGVERVLRDLRIFRIFEGTNDILRLFVALQGCMDKGKELSGLGSALKNPFGNAGLLLGEAGKQLRRRAGLGSGLSLSGLVHPELSRSGELAVRALEQFATVVEAKLIKHKKGIVNEQFLLQRLADGAIDLYAMVVVLSRASRSLSEGHPTAQHEKMLCDTWCIEAAARIREGMAALQSDPWQQELYRNFKSISKALVERGGVVTSNPLGFlld:biopax3
http://identifiers.org/unip...biopax3:standardNameVery long-chain specific acyl-CoA dehydrogenase, mitochondriallld: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