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FLASH GENE
Symbol AMACR contributors: mct - updated : 11-12-2017
HGNC name alpha-methylacyl-CoA racemase
HGNC id 451
Corresponding disease
AMACRD alpha-methylacyl-CoA racemase deficiency
Location 5p13.2      Physical location : 33.987.092 - 34.008.220
Synonym name 2-methylacyl-CoA racemase
Synonym symbol(s) RACE, CBAS4, AMACRD, P504S, RM
EC.number 5.1.99.4
DNA
TYPE functioning gene
STRUCTURE 21.13 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence cytosine-phosphate-guanine/HTF
Binding site   transcription factor
text structure two putative cis-regulatory element binding sites (for Sp1 and ZNF202) in the promoter (Zhang 2009)
MAPPING cloned Y linked   status confirmed
Map cen - D5S651 - AMACR - TARS - D5S426 - D5S395 - D5S2021 - D5S2022 - PTGER4 - D5S634 - qter
Authors Gene Map
Physical map
LOC391774 5 similar to hypothetical protein CDH6 5p15.32-p14.2 cadherin 6, type 2, K-cadherin (fetal kidney) RNASE3L 5p15.1 cadherin 6, type 2, K-cadherin (fetal kidney) FLJ11193 5p13.3 hypothetical protein FLJ11193 PDZK3 5p13.2 PDZ domain containing 3 GOLPH3 5p14.1 golgi phosphoprotein 3 (coat-protein) LOC202122 5p13.3 similar to ribosomal protein L27 PIP3AP 5p15.33 phosphatidylinositol-3-phosphate associated protein ZFR 5p13.2 zinc finger RNA binding protein LOC391775 5 similar to Chromosome 1 open reading frame 37 PC4 5p13.3 activated RNA polymerase II transcription cofactor 4 NPR3 5p14-p13 natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) FLJ14054 5p13.3 hypothetical protein FLJ14054 LOC389278 5 similar to 40S ribosomal protein S8 TARS 5p13.3-p13.2 threonyl-tRNA synthetase LOC389279 5 similar to RPE-spondin LOC391776 5 similar to Probable mitochondrial import receptor subunit TOM40 homolog (Translocase of outer membrane 40 kDa subunit homolog) (Haymaker protein) (p38.5) ADAMTS12 5q35 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12 SALPR 5p15.1-p14 G-protein coupled receptor SALPR MATP 5p13.3 membrane associated transporter protein AMACR 5p13.3-p12 alpha-methylacyl-CoA racemase C1QTNF3 5p13-p12 C1q and tumor necrosis factor related protein 3 LOC389280 5 similar to SMA3 protein LOC389281 5 similar to bA110H4.2 (similar to membrane protein) RAI14 5p13.3-p13.2 retinoic acid induced 14 FLJ25439 5p13.3 hypothetical protein FLJ25439 RAD1 5p13.3-p13.2 RAD1 homolog (S. pombe) BRIX 5p13.3 BRIX LOC134218 5p13.3 hypothetical protein LOC134218 AGXT2 5p13 alanine-glyoxylate aminotransferase 2 PRLR 5p14-p13.3 prolactin receptor LOC389282 5 similar to RIKEN cDNA C230086A09 gene FLJ23577 5p13.2 hypothetical protein FLJ23577 IL7R 5p13 interleukin 7 receptor MGC26610 5p13.2 hypothetical protein MGC26610 FLJ34658 5p13.2 hypothetical protein FLJ34658 LOC167127 5p13.2 hypothetical protein LOC167127 DKFZp434H2226 5p13.2 hypothetical protein DKFZp434H2226 SKP2 5p13 S-phase kinase-associated protein 2 (p45) FLJ30596 5p13.2 hypothetical protein FLJ30596 FLJ25422 5p13.2 hypothetical protein FLJ25422 SLC1A3 5p13 solute carrier family 1 (glial high affinity glutamate transporter), member 3 LOC345513 5p13.2 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) IDN3 5p13.2 IDN3 protein LOC391777 5 similar to ribosomal protein S4, X-linked FLJ13231 5p13.2 hypothetical protein FLJ13231
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 2534 42.3 382 - 2009 18080842
  • isoform 1
  • 4 - 2373 - 198 - 2009 18080842
  • isoform 2
  • - - - 43 - - 2009 18080842
    no peroxisomal targeting signal in the C terminus
    6 - 2603 - 394 - 2009 18080842
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a peroxisomal targeting domain in the C terminus
  • HOMOLOGY
    interspecies homolog to murine Amacr (77.4pc)
    homolog to rattus Amacr (78.1pc)
    Homologene
    FAMILY
  • caiB/baiF CoA-transferase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    basic FUNCTION
  • converting pristanoyl-CoA and C27 beta acyl-CoA to their (5) stereoisomers
  • essential step for the formation of cholic acid by the normal peroxisomal pathway
  • catalyzes the racemization of the 25-methyl group in C27-intermediates in bile acid synthesis and in methyl-branched fatty acids such as pristanic acid, a metabolite derived from phytol
  • indispensable role of AMACR in detoxification of alpha-methyl-branched fatty acids
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism energetic
    signaling
    alternative pathway of cholesterol side-chain oxidation
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AMACRD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    variant with a deletion in exon 5 overexpressed in prostate carcinoma
    tumoral somatic mutation      
    a double deletion of CG3 and CG10 in CpG island within the promoter leads to deregulation in colon carcinomas (Zhang 2009)
    constitutional        
    deletion of CG12-16 also involved in deregulation in colon carcinomas (Zhang)
    tumoral     --over  
    highly expressed in high grade dysplasia lesions of the stomach and in the intestinal-type adenocarcinoma (Huang 2008)
             
    marker for dysplasia in Barrett's esophagus (Scheil-Bertram 2008)
    tumoral     --over  
    in prostatic carcinoma
    tumoral     --over  
    in myxofibrosarcomas can be amplification-driven, associated with tumor aggressiveness, and may be relevant as a druggable target
    tumoral     --over  
    strong AMACR expression is associated with an increased risk of neoplastic progression in Barrett oesophagus (BO)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • well-characterized marker extensively utilized in prostate cancer (PCA) diagnosis
  • might be a potential prognostic marker for predicting early recurrence/metastasis of hepatocellular carcinoma (HCC) after hepatectomy
  • Therapy target
    ANIMAL & CELL MODELS
  • Amacr-deficient mice are clinically symptomless on a standard laboratory diet, but failed to thrive when fed phytol-enriched chow
  • intestinal cholesterol absorption in Amacr-/- mice is decreased resulting in a 2-fold increase in daily cholesterol excretion