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

Gene ID: 23600, updated on 27-Nov-2024

Summary

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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; AllianceGenome:HGNC:451
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
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Genomic context

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See AMACR in Genome Data Viewer
Location:
5p13.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (33986165..34008050, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (34108084..34129983, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (33986270..34008155, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:33944338-33944838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:33944839-33945339 Neighboring gene solute carrier family 45 member 2 Neighboring gene relaxin family peptide receptor 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:33978101-33978993 Neighboring gene C1QTNF3-AMACR readthrough (NMD candidate) Neighboring gene proteasome 26S subunit, ATPase, 6 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15964 Neighboring gene C1q and TNF related 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:34179672-34180662 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:34182107-34182256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:34182743-34183352 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:34188477-34188645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22457 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:34190819-34191799 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:34191800-34192781 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:34192782-34193762 Neighboring gene GUSB pseudogene 18 Neighboring gene integral membrane glycoprotein-like pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. A study of indefinite for dysplasia in Barrett's oesophagus: reproducibility of diagnosis, clinical outcomes and predicting progression with AMACR (alpha-methylacyl-CoA-racemase). Sonwalkar SA, et al. Histopathology, 2010 Jun. PMID 20636793
  2. Alpha-methylacyl-CoA racemase--an 'obscure' metabolic enzyme takes centre stage. Lloyd MD, et al. FEBS J, 2008 Mar. PMID 18279392
  3. Expression of alpha-methylacyl coenzyme A racemase in the dysplasia carcinoma sequence associated with Barrett's esophagus. Scheil-Bertram S, et al. Mod Pathol, 2008 Aug. PMID 18500268
  4. Sequence variants of alpha-methylacyl-CoA racemase are associated with prostate cancer risk: a replication study in an ethnically homogeneous population. FitzGerald LM, et al. Prostate, 2008 Sep 15. PMID 18537123
  5. Significance of overexpression of alpha methylacyl-coenzyme A racemase in hepatocellular carcinoma. Li W, et al. J Exp Clin Cancer Res, 2008 May 15. PMID 18577240, Free PMC Article

See all (131) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Alpha-methyl CoA racemase (AMACR) reactivity across the spectrum of clear cell renal cell neoplasms.
    Title: Alpha-methyl CoA racemase (AMACR) reactivity across the spectrum of clear cell renal cell neoplasms.
  2. AMACR Expression is a Potential Diagnostic Marker in Apocrine Lesions of Breast, and is Associated with High Histologic Grade and Lymph Node Metastases in Some Invasive Apocrine Breast Cancers.
    Title: AMACR Expression is a Potential Diagnostic Marker in Apocrine Lesions of Breast, and is Associated with High Histologic Grade and Lymph Node Metastases in Some Invasive Apocrine Breast Cancers.
  3. Alpha-methylacyl-CoA racemase (AMACR) protein is upregulated in early proliferative lesions of the breast irrespective of apocrine differentiation.
    Title: Alpha-methylacyl-CoA racemase (AMACR) protein is upregulated in early proliferative lesions of the breast irrespective of apocrine differentiation.
  4. P504S/alpha-methylacyl-CoA racemase, HNF1beta and napsin A in morular metaplasia and clear cell carcinoma of the endometrium: An immunohistochemical analysis.
    Title: P504S/alpha-methylacyl-CoA racemase, HNF1β and napsin A in morular metaplasia and clear cell carcinoma of the endometrium: An immunohistochemical analysis.
  5. Oncogenic Activity of Solute Carrier Family 45 Member 2 and Alpha-Methylacyl-Coenzyme A Racemase Gene Fusion Is Mediated by Mitogen-Activated Protein Kinase.
    Title: Oncogenic Activity of Solute Carrier Family 45 Member 2 and Alpha-Methylacyl-Coenzyme A Racemase Gene Fusion Is Mediated by Mitogen-Activated Protein Kinase.
  6. Napsin-A and AMACR are Superior to HNF-1beta in Distinguishing Between Mesonephric Carcinomas and Clear Cell Carcinomas of the Gynecologic Tract.
    Title: Napsin-A and AMACR are Superior to HNF-1β in Distinguishing Between Mesonephric Carcinomas and Clear Cell Carcinomas of the Gynecologic Tract.
  7. Correlation of cyclin D1, HER2, and AMACR expressions with histologic grade in bladder urothelial carcinomas.
    Title: Correlation of cyclin D1, HER2, and AMACR expressions with histologic grade in bladder urothelial carcinomas.
  8. Expression of alpha-methylacyl-CoA racemase in vaginal gastric-type adenocarcinoma and uterine clear cell carcinoma.
    Title: Expression of alpha-methylacyl-CoA racemase in vaginal gastric-type adenocarcinoma and uterine clear cell carcinoma.
  9. As the mutation was found in the healthy samples as well, it can be said that the current mutation AMACR can be involved in some other forms of peripheral neuropathy which can be with other phenotypes.
    Title: Role of Alpha-methylacyl-CoA racemase gene in pathogenecity of CMT patients.
  10. High AMACR expression is associated with prostate cancer.
    Title: Semen AMACR protein as a novel method for detecting prostate cancer.
Submit: New GeneRIF Correction See all GeneRIFs (99)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Alpha-methylacyl-CoA racemase deficiency
MedGen: C3280428 OMIM: 614307 GeneReviews: Not available
not available
Congenital bile acid synthesis defect 4
MedGen: C1858328 OMIM: 214950 GeneReviews: Pediatric Genetic Cholestatic Liver Disease Overview
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alpha-methylacyl-CoA racemase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables alpha-methylacyl-CoA racemase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables alpha-methylacyl-CoA racemase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables alpha-methylacyl-CoA racemase activity TAS
Traceable Author Statement
more info
  
enables signaling receptor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in bile acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in bile acid biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in bile acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in bile acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in fatty acid beta-oxidation using acyl-CoA oxidase TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in peroxisomal matrix TAS
Traceable Author Statement
more info
  
located_in peroxisome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_001167595.2 → NP_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/TrEMBL
    Q53GV0
    Related
    ENSP00000371517.3, ENST00000382085.7
    Conserved Domains (1) summary
    COG1804
    Location:3 → 373
    CaiB; Crotonobetainyl-CoA:carnitine CoA-transferase CaiB and related acyl-CoA transferases [Lipid transport and metabolism]

  2. NM_014324.6 → NP_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
    A5YM47, B8Y916, B8Y918, F8W9N1, O43673, Q3KT79, Q96GH1, Q9UHK6, Q9Y3Q1
    UniProtKB/TrEMBL
    Q53GV0
    Related
    ENSP00000334424.6, ENST00000335606.11
    Conserved Domains (1) summary
    COG1804
    Location:3 → 373
    CaiB; Crotonobetainyl-CoA:carnitine CoA-transferase CaiB and related acyl-CoA transferases [Lipid transport and metabolism]

  3. NM_203382.3 → NP_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/TrEMBL
    A8KAC3
    Related
    ENSP00000371504.2, ENST00000382072.6
    Conserved Domains (1) summary
    COG1804
    Location:3 → 131
    CaiB; Crotonobetainyl-CoA:carnitine CoA-transferase CaiB and related acyl-CoA transferases [Lipid transport and metabolism]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    33986165..34008050 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    34108084..34129983 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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UHK6.2 GenPept UniProtKB/Swiss-Prot:Q9UHK6

Gene LinkOut

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