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Aliases for AMACR Gene

Aliases for AMACR Gene

  • Alpha-Methylacyl-CoA Racemase 2 3 5
  • 2-Methylacyl-CoA Racemase 3 4
  • EC 5.1.99.4 4
  • AMACRD 3
  • CBAS4 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 Metabolism and Synthesis of bile acids and bile salts. GO annotations related to this gene include receptor binding and alpha-methylacyl-CoA racemase activity. An important paralog of this gene is SUGCT.

UniProtKB/Swiss-Prot for AMACR Gene

  • Racemization of 2-methyl-branched fatty acid CoA esters. Responsible for the conversion of pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers.

Gene Wiki entry for AMACR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMACR Gene

Genomics for AMACR Gene

Regulatory Elements for AMACR Gene

Promoters for AMACR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AMACR on UCSC Golden Path with GeneCards custom track

Genomic Location for AMACR Gene

Chromosome:
5
Start:
33,986,178 bp from pter
End:
34,008,115 bp from pter
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:
    No Data Available
    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; Positions=62, 65, 114; Evidence={ECO:0000305};

    Alternative splice isoforms for AMACR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AMACR Gene

Proteomics data for AMACR Gene at MOPED

Post-translational modifications for AMACR Gene

  • Ubiquitination at Lys 135
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for AMACR (alpha-Methylacyl-CoA Racemase/AMACR)
  • Cell Signaling Technology (CST) Antibodies for AMACR (AMACR)

No data available for DME Specific Peptides for AMACR Gene

Domains & Families for AMACR Gene

Protein Domains for AMACR Gene

Suggested Antigen Peptide Sequences for AMACR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UHK6

UniProtKB/Swiss-Prot:

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

No data available for Gene Families for AMACR Gene

Function for AMACR Gene

Molecular function for AMACR Gene

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
UniProtKB/Swiss-Prot CatalyticActivity:
(2S)-2-methylacyl-CoA = (2R)-2-methylacyl-CoA.
UniProtKB/Swiss-Prot Function:
Racemization of 2-methyl-branched fatty acid CoA esters. Responsible for the conversion of pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers.

Enzyme Numbers (IUBMB) for AMACR Gene

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

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for AMACR Gene COMPARTMENTS Subcellular localization image for AMACR gene
Compartment Confidence
mitochondrion 5
peroxisome 5
cytosol 3
plasma membrane 3
cytoskeleton 2
nucleus 2
endoplasmic reticulum 1
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for AMACR Gene

Pathways & Interactions for AMACR Gene

genes like me logo Genes that share pathways with AMACR: view

UniProtKB/Swiss-Prot Q9UHK6-AMACR_HUMAN

  • Pathway: Lipid metabolism; bile acid biosynthesis.
  • Pathway: Lipid metabolism; fatty acid metabolism.

Interacting Proteins for AMACR Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000371517%0d%0a9606.ENSP00000307697%0d%0a9606.ENSP00000263093%0d%0a9606.ENSP00000348775%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000407401%0d%0a
Selected Interacting proteins: Q9UHK6-AMACR_HUMAN ENSP00000371517 for AMACR Gene via I2D STRING

Gene Ontology (GO) - Biological Process for AMACR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
GO:0008206 bile acid metabolic process IDA,TAS 10655068
GO:0044255 cellular lipid metabolic process TAS --
genes like me logo Genes that share ontologies with AMACR: view

No data available for SIGNOR curated interactions for AMACR Gene

Drugs & Compounds for AMACR Gene

(17) Drugs for AMACR Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(24) Additional Compounds for AMACR Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(25R)-3alpha,7alpha,12alpha-Trihydroxy-5beta-cholestan-26-oyl-CoA
(25R)-3alpha,7alpha-Dihydroxy-5beta-cholestanoyl-CoA
(25S)-3alpha,7alpha,12alpha-Trihydroxy-5beta-cholestan-26-oyl-CoA
(25S)-3alpha,7alpha-Dihydroxy-5beta-cholestanoyl-CoA
Heptanoyl-CoA
  • 2-Methyloctanoyl CoA, 21
  • 2-Methyloctanoyl Coenzyme A, 21
genes like me logo Genes that share compounds with AMACR: view

Transcripts for AMACR Gene

Unigene Clusters for AMACR Gene

Alpha-methylacyl-CoA racemase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AMACR Gene

No ASD Table

Relevant External Links for AMACR Gene

GeneLoc Exon Structure for
AMACR
ECgene alternative splicing isoforms for
AMACR

Expression for AMACR Gene

mRNA expression in normal human tissues for AMACR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AMACR Gene

This gene is overexpressed in Kidney - Cortex (x8.1) and Liver (x4.2).

Protein differential expression in normal tissues from HIPED for AMACR Gene

This gene is overexpressed in Kidney (28.2) and Liver (20.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for AMACR Gene



SOURCE GeneReport for Unigene cluster for AMACR Gene Hs.508343

genes like me logo Genes that share expression patterns with AMACR: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for AMACR Gene

Orthologs for AMACR Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AMACR Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AMACR 35
  • 83.94 (n)
  • 84.29 (a)
AMACR 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AMACR 35
  • 84.12 (n)
  • 80.37 (a)
AMACR 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Amacr 35
  • 79.7 (n)
  • 77.43 (a)
Amacr 16
Amacr 36
  • 76 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AMACR 35
  • 99.03 (n)
  • 97.88 (a)
rat
(Rattus norvegicus)
Mammalia Amacr 35
  • 80.02 (n)
  • 78.01 (a)
oppossum
(Monodelphis domestica)
Mammalia AMACR 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AMACR 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves AMACR 35
  • 71.12 (n)
  • 71.73 (a)
AMACR 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia amacr 35
  • 63.53 (n)
  • 62.57 (a)
Str.15645 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.10222 35
zebrafish
(Danio rerio)
Actinopterygii c1qtnf3 35
  • 60.91 (n)
  • 62.83 (a)
c1qtnf3 36
  • 62 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9319 37
  • 44 (a)
CG9319 35
  • 56.77 (n)
  • 56.36 (a)
CG9319 36
  • 50 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008414 35
  • 57.72 (n)
  • 56.16 (a)
worm
(Caenorhabditis elegans)
Secernentea C24A3.4 37
  • 35 (a)
CELE_ZK892.4 35
  • 50.7 (n)
  • 45.66 (a)
C24A3.4 36
  • 41 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7675 35
bread mold
(Neurospora crassa)
Ascomycetes NCU04099 35
  • 55.76 (n)
  • 51.85 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToOne
Species with no ortholog for AMACR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AMACR Gene

ENSEMBL:
Gene Tree for AMACR (if available)
TreeFam:
Gene Tree for AMACR (if available)

Paralogs for AMACR Gene

Paralogs for AMACR Gene

Pseudogenes.org Pseudogenes for AMACR Gene

genes like me logo Genes that share paralogs with AMACR: view

Variants for AMACR Gene

Sequence variations from dbSNP and Humsavar for AMACR Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_010660 -
VAR_010661 Alpha-methylacyl-CoA racemase deficiency (AMACRD)
VAR_010661 Congenital bile acid synthesis defect 4 (CBAS4)
VAR_010662 -
VAR_010663 -

Structural Variations from Database of Genomic Variants (DGV) for AMACR Gene

Variant ID Type Subtype PubMed ID
nsv522715 CNV Gain 19592680
nsv830255 CNV Loss 17160897
nsv519240 CNV Gain 19592680
esv32686 CNV Loss 17666407
esv33890 CNV Gain+Loss 17666407

Variation tolerance for AMACR Gene

Residual Variation Intolerance Score: 71.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.47; 94.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AMACR Gene

HapMap Linkage Disequilibrium report
AMACR
Human Gene Mutation Database (HGMD)
AMACR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMACR Gene

Disorders for AMACR Gene

MalaCards: The human disease database

(29) MalaCards diseases for AMACR Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bile acid synthesis defect, congenital, 4
  • alpha-methylacyl-coa racemase deficiency
alpha-methylacyl-coa racemase deficiency
  • alpha-methylacyl-coa racemase
nephrogenic adenoma
  • nephrogenic metaplasia
metanephric adenoma
congenital bile acid synthesis defect
  • 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search AMACR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AMACR_HUMAN
  • Alpha-methylacyl-CoA racemase deficiency (AMACRD) [MIM:614307]: A rare autosomal recessive peroxisomal disorder characterized by elevated plasma concentrations of pristanic acid C27-bile-acid intermediates, and adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging. {ECO:0000269 PubMed:10655068}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Congenital bile acid synthesis defect 4 (CBAS4) [MIM:214950]: A disorder characterized by the presence of trihydroxycoprostanic acid in the bile and absence of cholic acid. Patients manifest neonatal jaundice, intrahepatic cholestasis and bile duct deficiency. {ECO:0000269 PubMed:10655068, ECO:0000269 PubMed:12512044}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for AMACR Gene

sensory motor neuropathy adult onset may be associated with a retinitis pigmentosa,associated with elevated plasma concentrations of pristanic acid and C27-bile-acid intermediates

Relevant External Links for AMACR

Genetic Association Database (GAD)
AMACR
Human Genome Epidemiology (HuGE) Navigator
AMACR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AMACR
genes like me logo Genes that share disorders with AMACR: view

Publications for AMACR Gene

  1. Polymorphic variants in alpha-methylacyl-CoA racemase and prostate cancer. (PMID: 17680641) Daugherty S.E. … Hayes R.B. (Prostate 2007) 3 23 48 67
  2. Expression of alpha-methylacyl-CoA racemase (P504S) in sebaceous neoplasms. (PMID: 19638170) Halsey M.A. … Morgan M.B. (J. Cutan. Pathol. 2010) 3 23
  3. AMACR is associated with advanced pathologic risk factors in sporadic colorectal adenomas. (PMID: 20503447) Lakis S. … Kotoula V. (World J. Gastroenterol. 2010) 3 23
  4. Molecular cloning and preliminary analysis of the human alpha-methylacyl-CoA racemase promoter. (PMID: 18080842) Chen W. … Zhang J. (Mol. Biol. Rep. 2009) 3 23
  5. Deletion hotspots in AMACR promoter CpG island are cis-regulatory elements controlling the gene expression in the colon. (PMID: 19148275) Zhang X. … Ho S.M. (PLoS Genet. 2009) 3 23

Products for AMACR Gene

Sources for AMACR Gene

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