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Identification
HMDB Protein ID HMDBP02680
Secondary Accession Numbers
  • 8183
Name Alpha-methylacyl-CoA racemase
Synonyms
  1. 2-methylacyl-CoA racemase
Gene Name AMACR
Protein Type Enzyme
Biological Properties
General Function Involved in catalytic activity
Specific Function Racemization of 2-methyl-branched fatty acid CoA esters. Responsible for the conversion of pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers.
Pathways
  • 27-Hydroxylase Deficiency
  • bile acid biosynthesis
  • Bile Acid Biosynthesis
  • Cerebrotendinous Xanthomatosis (CTX)
  • Congenital Bile Acid Synthesis Defect Type II
  • Congenital Bile Acid Synthesis Defect Type III
  • Familial Hypercholanemia (FHCA)
  • fatty acid metabolism
  • Peroxisome
  • Primary bile acid biosynthesis
  • Zellweger Syndrome
Reactions
(2S)-2-methylacyl-CoA → (2R)-2-methylacyl-CoA details
(25R)-3alpha,7alpha,12alpha-Trihydroxy-5beta-cholestan-26-oyl-CoA → (25S)-3alpha,7alpha,12alpha-Trihydroxy-5beta-cholestan-26-oyl-CoA details
(25R)-3alpha,7alpha-Dihydroxy-5beta-cholestanoyl-CoA → (25S)-3alpha,7alpha-Dihydroxy-5beta-cholestanoyl-CoA details
GO Classification
Biological Process
bile acid biosynthetic process
fatty acid beta-oxidation using acyl-CoA oxidase
Cellular Component
mitochondrion
peroxisomal matrix
peroxisome
Function
catalytic activity
Molecular Function
alpha-methylacyl-CoA racemase activity
catalytic activity
Process
metabolic process
Cellular Location
  1. Mitochondrion
  2. Peroxisome
Gene Properties
Chromosome Location 5
Locus 5p13
SNPs AMACR
Gene Sequence
>1149 bp
ATGGCACTGCAGGGCATCTCGGTCATGGAGCTGTCCGGCCTGGCCCCGGGCCCGTTCTGT
GCTATGGTCCTGGCTGACTTCGGGGCGCGTGTGGTACGCGTGGACCGGCCCGGCTCCCGC
TACGACGTGAGCCGCTTGGGCCGGGGCAAGCGCTCGCTAGTGCTGGACCTGAAGCAGCCG
CGGGGAGCCGCCGTGCTGCGGCGTCTGTGCAAGCGGTCGGATGTGCTGCTGGAGCCCTTC
CGCCGCGGTGTCATGGAGAAACTCCAGCTGGGCCCAGAGATTCTGCAGCGGGAAAATCCA
AGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTGCCGGTTAGCT
GGCCACGATATCAACTATTTGGCTTTGTCAGGTGTTCTCTCAAAAATTGGCAGAAGTGGT
GAGAATCCGTATGCCCCGCTGAATCTCCTGGCTGACTTTGCTGGTGGTGGCCTTATGTGT
GCACTGGGCATTATAATGGCTCTTTTTGACCGCACACGCACTGACAAGGGTCAGGTCATT
GATGCAGATATGGTGGAAGGAACAGCATATTTAAGTTCTTTTCTGTGGAAAACTCAGAAA
TCGAGTCTGTGGGAAGCACCTCGAGGACAGAACATGTTGGATGGTGGAGCACCTTTCTAT
ACGACTTACAGGACAGCAGATGGGGAATTCATGGCTGTTGGAGCAATAGAACCCCAGTTC
TACGAGCTGCTGATCAAAGGACTTGGACTAAAGTCTGATGAACTTCCCTCTCAGATGAGC
ACGGATGATTGGCCAGAAATGAAGAAGAAGTTTGCAGATGTATTTGCAAAGAAGACGAAG
GCAGAGTGGTGTCAAATCTTTGACGGCACAGATGCCTGTGTGACTCCGGTTCTGACTTTT
GAGGAGGTTGTTCATCATGATCACAACAAGGAACGGGGCTCGTTTATCACCAGTGAGGAG
CAGGACGTGAGCCCCCGCCCTGCACCTCTGCTGTTAAACACCCCAGCCATCCCTTCTTTC
AAAAGGGATCCTTTCATAGGAGAACACACTGAGGAGATACTTGAAGAATTTGGATTCAGC
CGCGAAGAGATTTATCAGCTTAACTCAGATAAAATCATTGAAAGTAATAAGGTAAAAGCT
AGTCTCTAA
Protein Properties
Number of Residues 382
Molecular Weight 43859.945
Theoretical pI 6.8
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Alpha-methylacyl-CoA racemase
MALQGISVVELSGLAPGPFCAMVLADFGARVVRVDRPGSRYDVSRLGRGKRSLVLDLKQP
RGAAVLRRLCKRSDVLLEPFRRGVMEKLQLGPEILQRENPRLIYARLSGFGQSGSFCRLA
GHDINYLALSGVLSKIGRSGENPYAPLNLLADFAGGGLMCALGIIMALFDRTRTGKGQVI
DANMVEGTAYLSSFLWKTQKSSLWEAPRGQNMLDGGAPFYTTYRTADGEFMAVGAIEPQF
YELLIKGLGLKSDELPNQMSMDDWPEMKKKFADVFAKKTKAEWCQIFDGTDACVTPVLTF
EEVVHHDHNKERGSFITSEEQDVSPRPAPLLLNTPAIPSFKRDPFIGEHTEEILEEFGFS
REEIYQLNSDKIIESNKVKASL
GenBank ID Protein 4204097
UniProtKB/Swiss-Prot ID Q9UHK6
UniProtKB/Swiss-Prot Entry Name AMACR_HUMAN
PDB IDs Not Available
GenBank Gene ID AF047020
GeneCard ID AMACR
GenAtlas ID AMACR
HGNC ID HGNC:451
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S, Schupp I: The full-ORF clone resource of the German cDNA Consortium. BMC Genomics. 2007 Oct 31;8:399. [PubMed:17974005 ]
  3. Amery L, Fransen M, De Nys K, Mannaerts GP, Van Veldhoven PP: Mitochondrial and peroxisomal targeting of 2-methylacyl-CoA racemase in humans. J Lipid Res. 2000 Nov;41(11):1752-9. [PubMed:11060344 ]
  4. Ferdinandusse S, Denis S, Clayton PT, Graham A, Rees JE, Allen JT, McLean BN, Brown AY, Vreken P, Waterham HR, Wanders RJ: Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nat Genet. 2000 Feb;24(2):188-91. [PubMed:10655068 ]
  5. Schmitz W, Albers C, Fingerhut R, Conzelmann E: Purification and characterization of an alpha-methylacyl-CoA racemase from human liver. Eur J Biochem. 1995 Aug 1;231(3):815-22. [PubMed:7649182 ]
  6. Setchell KD, Heubi JE, Bove KE, O'Connell NC, Brewsaugh T, Steinberg SJ, Moser A, Squires RH Jr: Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy. Gastroenterology. 2003 Jan;124(1):217-32. [PubMed:12512044 ]