LMPD Database

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LMP004774

UniProt Annotations

Entry Information
Gene Namealpha-methylacyl-CoA racemase
Protein EntryAMACR_HUMAN
UniProt IDQ9UHK6
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9UHK6-1; Sequence=Displayed; Name=2; Synonyms=IBLi; IsoId=Q9UHK6-2; Sequence=VSP_037321, VSP_037326; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q9UHK6-4; Sequence=VSP_037323, VSP_037324; Name=4; IsoId=Q9UHK6-5; Sequence=VSP_044875; Note=Expression is elevated in prostate cancer.;
Catalytic Activity(2S)-2-methylacyl-CoA = (2R)-2-methylacyl-CoA.
DiseaseAlpha-methylacyl-CoA racemase deficiency (AMACRD) [MIM
DiseaseCongenital bile acid synthesis defect 4 (CBAS4) [MIM
FunctionRacemization of 2-methyl-branched fatty acid CoA esters. Responsible for the conversion of pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers.
PathwayLipid metabolism; bile acid biosynthesis.
PathwayLipid metabolism; fatty acid metabolism.
Sequence CautionSequence=ACL67853.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence= ; Sequence=ACL67854.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence= ; Sequence=CAB44062.1; Type=Frameshift; Positions=62, 65, 114; Evidence= ;
SimilarityBelongs to the CaiB/BaiF CoA-transferase family.
Subcellular LocationPeroxisome . Mitochondrion .