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 associat... See more...

Aliases for AMACR Gene

Aliases for AMACR Gene

  • Alpha-Methylacyl-CoA Racemase 2 3 4 5
  • 2-Methylacyl-CoA Racemase 3 4
  • EC 5.1.99.4 4
  • AMACRD 3
  • CBAS4 3
  • P504S 3
  • RACE 3
  • RM 3

External Ids for AMACR Gene

Previous GeneCards Identifiers for AMACR Gene

  • GC05M033933
  • GC05M034446
  • GC05M034032
  • GC05M034033
  • GC05M034023

Summaries for AMACR Gene

Entrez Gene Summary for AMACR Gene

  • 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]

GeneCards Summary for AMACR Gene

AMACR (Alpha-Methylacyl-CoA Racemase) is a Protein Coding gene. Diseases associated with AMACR include Bile Acid Synthesis Defect, Congenital, 4 and Alpha-Methylacyl-Coa Racemase Deficiency. Among its related pathways are Synthesis of bile acids and bile salts and Metabolism. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and alpha-methylacyl-CoA racemase activity. An important paralog of this gene is SUGCT.

UniProtKB/Swiss-Prot Summary for AMACR Gene

  • Catalyzes the interconversion of (R)- and (S)-stereoisomers of alpha-methyl-branched-chain fatty acyl-CoA esters (PubMed:7649182, PubMed:10655068, PubMed:11060359). Acts only on coenzyme A thioesters, not on free fatty acids, and accepts as substrates a wide range of alpha-methylacyl-CoAs, including pristanoyl-CoA, trihydroxycoprostanoyl-CoA (an intermediate in bile acid synthesis), and arylpropionic acids like the anti-inflammatory drug ibuprofen (2-(4-isobutylphenyl)propionic acid) but neither 3-methyl-branched nor linear-chain acyl-CoAs (PubMed:7649182, PubMed:10655068, PubMed:11060359).

Gene Wiki entry for AMACR Gene

Additional gene information for AMACR Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AMACR Gene

Genomics for AMACR Gene

GeneHancer (GH) Regulatory Elements for AMACR Gene

Promoters and enhancers for AMACR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J034006 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 603.4 -0.5 -534 4.5 FOXK2 ZNF217 NRF1 POLR2G NCOR1 PHF8 TEAD4 ZFX ZNF10 ZIC2 AMACR ENSG00000249572 BRIX1 TTC23L ENSG00000215158 DNAJC21 C1QTNF3 piR-41405-009 C1QTNF3-AMACR
GH05J034000 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 49.1 +6.7 6714 2.4 RFX1 FOXA2 ZNF316 SP2 MAFF ZNF184 MAFK NFE2 JUND FOXA1 AMACR ENSG00000250767 lnc-SLC45A2-1 C1QTNF3-AMACR
GH05J033996 Enhancer 0.5 Ensembl 83.9 +11.8 11814 0.6 FOXA2 SPI1 RXRA RFX5 RARA HNF4A NR2F6 SP1 ENSG00000250767 lnc-SLC45A2-1 AMACR RF00017-4563 C1QTNF3-AMACR
GH05J034036 Enhancer 0.7 Ensembl ENCODE 41.6 -29.8 -29797 2.6 RFX1 ATF2 CEBPG PKNOX1 PRDM6 CEBPB BCL6B ZNF362 ZNF577 SREBF1 piR-41405-009 AMACR C1QTNF3 C1QTNF3-AMACR
GH05J034033 Enhancer 0.9 ENCODE dbSUPER 29.4 -26.5 -26501 2.2 NCOR1 KDM6A TCF7 TBX3 FOXA2 SAP130 ZBTB33 JUND CREM FOXP1 AMACR piR-41405-009 C1QTNF3 C1QTNF3-AMACR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AMACR on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AMACR

Top Transcription factor binding sites by QIAGEN in the AMACR gene promoter:
  • ATF
  • FOXO1
  • FOXO1a
  • PPAR-alpha
  • Sp1

Genomic Locations for AMACR Gene

Genomic Locations for AMACR Gene
chr5:33,986,165-34,008,115
(GRCh38/hg38)
Size:
21,951 bases
Orientation:
Minus strand
chr5:33,986,283-34,008,220
(GRCh37/hg19)
Size:
21,938 bases
Orientation:
Minus strand

Genomic View for AMACR Gene

Genes around AMACR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMACR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AMACR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMACR Gene

Proteins for AMACR Gene

  • Protein details for AMACR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHK6-AMACR_HUMAN
    Recommended name:
    Alpha-methylacyl-CoA racemase
    Protein Accession:
    Q9UHK6
    Secondary Accessions:
    • A5YM47
    • B8Y916
    • B8Y918
    • F8W9N1
    • O43673
    • Q3KT79
    • Q96GH1
    • Q9Y3Q1

    Protein attributes for AMACR Gene

    Size:
    382 amino acids
    Molecular mass:
    42387 Da
    Quaternary structure:
    • Monomer.
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform 4]: Expression is elevated in prostate cancer.
    SequenceCaution:
    • Sequence=ACL67853.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=ACL67854.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=CAB44062.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for AMACR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AMACR Gene

Post-translational modifications for AMACR Gene

  • Ubiquitination at Lys135
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for AMACR

No data available for DME Specific Peptides for AMACR Gene

Domains & Families for AMACR Gene

Gene Families for AMACR Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for AMACR Gene

Blocks:
  • L-carnitine dehydratase/bile acid-inducible protein F
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AMACR Gene

GenScript: Design optimal peptide antigens:
  • 2-methylacyl-CoA racemase (AMACR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UHK6

UniProtKB/Swiss-Prot:

AMACR_HUMAN :
  • Belongs to the CoA-transferase III family.
Family:
  • Belongs to the CoA-transferase III family.
genes like me logo Genes that share domains with AMACR: view

Function for AMACR Gene

Molecular function for AMACR Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the interconversion of (R)- and (S)-stereoisomers of alpha-methyl-branched-chain fatty acyl-CoA esters (PubMed:7649182, PubMed:10655068, PubMed:11060359). Acts only on coenzyme A thioesters, not on free fatty acids, and accepts as substrates a wide range of alpha-methylacyl-CoAs, including pristanoyl-CoA, trihydroxycoprostanoyl-CoA (an intermediate in bile acid synthesis), and arylpropionic acids like the anti-inflammatory drug ibuprofen (2-(4-isobutylphenyl)propionic acid) but neither 3-methyl-branched nor linear-chain acyl-CoAs (PubMed:7649182, PubMed:10655068, PubMed:11060359).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(2S)-2-methylacyl-CoA = (2R)-2-methylacyl-CoA; Xref=Rhea:RHEA:12657, ChEBI:CHEBI:57313, ChEBI:CHEBI:57314; EC=5.1.99.4; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:12658; Evidence=. ; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:12659; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oyl-CoA = (25S)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oyl-CoA; Xref=Rhea:RHEA:40455, ChEBI:CHEBI:58677, ChEBI:CHEBI:77251; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40456; Evidence=. ; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:40457; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(2R,6)-dimethylheptanoyl-CoA = (2S,6)-dimethylheptanoyl-CoA; Xref=Rhea:RHEA:46732, ChEBI:CHEBI:86982, ChEBI:CHEBI:86983; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46733; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=172 uM for pristanoyl-CoA {ECO:0000269 PubMed:7649182}; KM=31.6 uM for trihydroxycoprostanoyl-CoA {ECO:0000269 PubMed:7649182}; Vmax=0.1 umol/min/mg enzyme for pristanoyl-CoA {ECO:0000269 PubMed:7649182}; Vmax=0.3 umol/min/mg enzyme for trihydroxycoprostanoyl-CoA {ECO:0000269 PubMed:7649182}; pH dependence: Optimum pH is 7-8. {ECO:0000269 PubMed:7649182};
GENATLAS Biochemistry:
alpha-methylacyl-CoA racemase,expressed in liver,peroxisomal,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

Enzyme Numbers (IUBMB) for AMACR Gene

Phenotypes From GWAS Catalog for AMACR Gene

Gene Ontology (GO) - Molecular Function for AMACR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004333 fumarate hydratase activity IEA --
GO:0008111 alpha-methylacyl-CoA racemase activity TAS --
GO:0008410 CoA-transferase activity IEA --
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with AMACR: view
genes like me logo Genes that share phenotypes with AMACR: view

Human Phenotype Ontology for AMACR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AMACR Gene

MGI Knock Outs for AMACR:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMACR

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for AMACR Gene

Localization for AMACR Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMACR Gene

Peroxisome. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AMACR gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
peroxisome 5
cytosol 5
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AMACR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 15941950
GO:0005739 mitochondrion IDA,IEA 7649182
GO:0005777 peroxisome IEA,IDA 7649182
GO:0005782 peroxisomal matrix TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with AMACR: view

Pathways & Interactions for AMACR Gene