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    AMACR alpha-methylacyl-CoA racemase [ Homo sapiens (human) ]

    Gene ID: 23600, updated on 8-May-2017
    Official Symbol
    AMACRprovided by HGNC
    Official Full Name
    alpha-methylacyl-CoA racemaseprovided by HGNC
    Primary source
    HGNC:HGNC:451
    See related
    Ensembl:ENSG00000242110 MIM:604489; Vega:OTTHUMG00000090734
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RM; RACE; CBAS4; P504S; AMACRD
    Summary
    This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]
    Orthologs
    Location:
    5p13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (33986986..34008115, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (33987091..34008220, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene relaxin/insulin like family peptide receptor 3 Neighboring gene solute carrier family 45 member 2 Neighboring gene C1QTNF3-AMACR readthrough (NMD candidate) Neighboring gene proteasome 26S subunit, ATPase, 6 pseudogene 3 Neighboring gene C1q and TNF related 3 Neighboring gene glucuronidase beta pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    alpha-methylacyl-CoA racemase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    alpha-methylacyl-CoA racemase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    alpha-methylacyl-CoA racemase activity TAS
    Traceable Author Statement
    more info
     
    receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    bile acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    bile acid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    bile acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fatty acid beta-oxidation using acyl-CoA oxidase TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peroxisomal matrix TAS
    Traceable Author Statement
    more info
     
    peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    alpha-methylacyl-CoA racemase
    Names
    2-methylacyl-CoA racemase
    NP_001161067.1
    NP_055139.4
    NP_976316.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016211.1 RefSeqGene

      Range
      5001..26130
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001167595.1NP_001161067.1  alpha-methylacyl-CoA racemase isoform 3

      See identical proteins and their annotated locations for NP_001161067.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate segment in the 3' end of the CDS, which results in a frameshift, compared to variant 1. The resulting protein (isoform 3) is longer and has a distinct C-terminus, compared to isoform 1. This isoform is also referred to as AMACRIADEL.
      Source sequence(s)
      AA969512, AC139783, AY935981, DA156454
      Consensus CDS
      CCDS54836.1
      UniProtKB/Swiss-Prot
      Q9UHK6
      Related
      ENSP00000371517.3, OTTHUMP00000219980, ENST00000382085.7, OTTHUMT00000364411
      Conserved Domains (1) summary
      COG1804
      Location:3373
      CaiB; Crotonobetainyl-CoA:carnitine CoA-transferase CaiB and related acyl-CoA transferases [Lipid transport and metabolism]
    2. NM_014324.5NP_055139.4  alpha-methylacyl-CoA racemase isoform 1

      See identical proteins and their annotated locations for NP_055139.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1, also referred to as AMACR IA.
      Source sequence(s)
      AA969512, AC139783, DA156454
      Consensus CDS
      CCDS3902.1
      UniProtKB/Swiss-Prot
      Q9UHK6
      Related
      ENSP00000334424.6, OTTHUMP00000115916, ENST00000335606.10, OTTHUMT00000207467
      Conserved Domains (1) summary
      COG1804
      Location:3373
      CaiB; Crotonobetainyl-CoA:carnitine CoA-transferase CaiB and related acyl-CoA transferases [Lipid transport and metabolism]
    3. NM_203382.2NP_976316.1  alpha-methylacyl-CoA racemase isoform 2

      See identical proteins and their annotated locations for NP_976316.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1. This isoform is also referred to as AMACR IB.
      Source sequence(s)
      AA969512, AC139783, DA156454
      Consensus CDS
      CCDS3903.1
      UniProtKB/Swiss-Prot
      Q9UHK6
      Related
      ENSP00000371504.2, OTTHUMP00000115917, ENST00000382072.6, OTTHUMT00000207468
      Conserved Domains (1) summary
      COG1804
      Location:3131
      CaiB; Crotonobetainyl-CoA:carnitine CoA-transferase CaiB and related acyl-CoA transferases [Lipid transport and metabolism]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      33986986..34008115 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      33988659..34009789 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001167596.1: Suppressed sequence

      Description
      NM_001167596.1: This RefSeq was permanently suppressed because the transcript may be incomplete at the 3'' end.
    2. NM_001167597.1: Suppressed sequence

      Description
      NM_001167597.1: This RefSeq was permanently suppressed because the transcript may be incomplete at the 3'' end.
    3. NM_001167598.1: Suppressed sequence

      Description
      NM_001167598.1: This RefSeq was permanently suppressed because the transcript may be incomplete at the 3'' end.
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