Format

Send to:

Choose Destination

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

Gene ID: 23600, updated on 24-Nov-2020

Summary

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
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]
Expression
Broad expression in kidney (RPKM 38.3), liver (RPKM 31.1) and 22 other tissues See more
Orthologs

Genomic context

See AMACR in Genome Data Viewer
Location:
5p13.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (33986165..34008050, 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 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 Neighboring gene integral membrane glycoprotein-like pseudogene

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
CoA-transferase activity IEA
Inferred from Electronic Annotation
more info
 
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
 
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
 
protein targeting to peroxisome TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
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
 

General protein information

Preferred Names
alpha-methylacyl-CoA racemase
Names
2-methylacyl-CoA racemase
NP_001161067.1
NP_055139.4
NP_976316.1

NCBI Reference Sequences (RefSeq)

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
    5066..26951
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001167595.2NP_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
    Consensus CDS
    CCDS54836.1
    UniProtKB/Swiss-Prot
    Q9UHK6
    Related
    ENSP00000371517.3, ENST00000382085.7
    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_014324.6NP_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
    Consensus CDS
    CCDS3902.1
    UniProtKB/Swiss-Prot
    Q9UHK6
    Related
    ENSP00000334424.6, ENST00000335606.11
    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_203382.3NP_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
    Consensus CDS
    CCDS3903.1
    UniProtKB/Swiss-Prot
    Q9UHK6
    Related
    ENSP00000371504.2, ENST00000382072.6
    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 Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    33986165..34008050 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.
Support Center