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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
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