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

Gene ID: 23600, updated on 11-Sep-2014
Official Symbol
AMACRprovided by HGNC
Official Full Name
alpha-methylacyl-CoA racemaseprovided by HGNC
Primary source
HGNC:HGNC:451
See related
Ensembl:ENSG00000242110; HPRD:05134; 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; 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]
See AMACR in Epigenomics, MapViewer
Location:
5p13
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 tumor necrosis factor related protein 3 Neighboring gene glucuronidase, beta pseudogene

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 
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 
bile acid metabolic process TAS
Traceable Author Statement
more info
 
cellular lipid metabolic process TAS
Traceable Author Statement
more info
 
fatty acid beta-oxidation using acyl-CoA oxidase TAS
Traceable Author Statement
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
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 
Preferred Names
alpha-methylacyl-CoA racemase
Names
alpha-methylacyl-CoA racemase
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 

    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

    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
    Conserved Domains (1) summary
    COG1804
    Location:3373
    CaiB; Predicted acyl-CoA transferases/carnitine dehydratase [Energy production and conversion]
  2. NM_014324.5NP_055139.4  alpha-methylacyl-CoA racemase isoform 1

    See proteins identical to 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, OTTHUMP00000115916, ENST00000335606, OTTHUMT00000207467
    Conserved Domains (1) summary
    COG1804
    Location:3373
    CaiB; Predicted acyl-CoA transferases/carnitine dehydratase [Energy production and conversion]
  3. NM_203382.2NP_976316.1  alpha-methylacyl-CoA racemase isoform 2

    See proteins identical to 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, OTTHUMP00000115917, ENST00000382072, OTTHUMT00000207468
    Conserved Domains (1) summary
    COG1804
    Location:3131
    CaiB; Predicted acyl-CoA transferases/carnitine dehydratase [Energy production and conversion]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

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

Alternate HuRef

Genomic

  1. AC_000137.1 

    Range
    33965051..33986185
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 

    Range
    33988659..34009789
    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.