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Aliases for AMACR Gene

Aliases for AMACR Gene

  • Alpha-Methylacyl-CoA Racemase 2 3
  • 2-Methylacyl-CoA Racemase 3 4
  • AMACRD 3 6
  • CBAS4 3 6
  • EC 5.1.99.4 4
  • RACE 3
  • RM 3

External Ids for AMACR Gene

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 alpha-methylacyl-coa racemase deficiency and tubulocystic carcinoma. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include receptor binding and alpha-methylacyl-CoA racemase activity.

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

Genomic Location for AMACR Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AMACR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMACR Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys135

Other Protein References for AMACR Gene

No data available for DME Specific Peptides for AMACR Gene

Domains for AMACR Gene

Protein Domains for AMACR Gene

UniProtKB/Swiss-Prot:

AMACR_HUMAN
Family:
  • Belongs to the CaiB/BaiF CoA-transferase family.:
    • Q9UHK6
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

Gene Ontology (GO) - Molecular Function for AMACR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0005102 receptor binding IPI 11060344
GO:0008111 alpha-methylacyl-CoA racemase activity IMP 10655068
genes like me logo Genes that share ontologies with AMACR: view
genes like me logo Genes that share phenotypes with AMACR: view

Animal Models for AMACR Gene

MGI Knock Outs for AMACR:

miRNA for AMACR Gene

miRTarBase miRNAs that target AMACR

No data available for Transcription Factor Targeting 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
cytoskeleton 2
nucleus 2
plasma membrane 2
cytosol 1
endoplasmic reticulum 1
extracellular 1

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 11060344
GO:0005777 peroxisome IDA 11060344
GO:0005782 peroxisomal matrix TAS --
genes like me logo Genes that share ontologies with AMACR: view

Pathways for AMACR Gene

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

Pathways by source for AMACR Gene

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.ENSP00000348775%0d%0a9606.ENSP00000307697%0d%0a9606.ENSP00000263093%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000407401%0d%0a
Selected Interacting proteins: ENSP00000371517 Q9UHK6-AMACR_HUMAN for AMACR Gene via STRING I2D

Gene Ontology (GO) - Biological Process for AMACR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006699 bile acid biosynthetic process TAS --
GO:0008152 metabolic process --
GO:0008206 bile acid metabolic process TAS --
GO:0033540 fatty acid beta-oxidation using acyl-CoA oxidase TAS --
GO:0044255 cellular lipid metabolic process TAS --
genes like me logo Genes that share ontologies with AMACR: view

Compounds for AMACR Gene

(2) HMDB Compounds for AMACR Gene

Compound Synonyms Cas Number PubMed IDs
Heptanoyl-CoA
  • 2-methyloctanoyl CoA, 21
Not Available
Pristanoyl-CoA
  • 3-Oxopristanoyl-CoA
Not Available

(35) Novoseek inferred chemical compound relationships for AMACR Gene

Compound -log(P) Hits PubMed IDs
trihydroxycholestanoic acid 83.2 3
pristanic acid 80.9 12
phytanic acid 69.9 7
ddp-cr 51.2 2
adenylate 37.3 5
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:

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 (8.1) and Liver (4.2).

Integrated Proteomics: protein expression 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 expressions with AMACR: view

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
chimpanzee
(Pan troglodytes)
Mammalia AMACR 36
  • 99.03 (n)
  • 97.88 (a)
cow
(Bos Taurus)
Mammalia AMACR 36
  • 83.94 (n)
  • 84.29 (a)
AMACR 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AMACR 36
  • 84.12 (n)
  • 80.37 (a)
AMACR 37
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Amacr 36
  • 79.7 (n)
  • 77.43 (a)
Amacr 16
Amacr 37
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AMACR 37
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AMACR 37
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Amacr 36
  • 80.02 (n)
  • 78.01 (a)
chicken
(Gallus gallus)
Aves AMACR 36
  • 71.12 (n)
  • 71.73 (a)
AMACR 37
  • 69 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.10222 36
tropical clawed frog
(Silurana tropicalis)
Amphibia amacr 36
  • 63.53 (n)
  • 62.57 (a)
Str.15645 36
zebrafish
(Danio rerio)
Actinopterygii c1qtnf3 36
  • 60.91 (n)
  • 62.83 (a)
c1qtnf3 37
  • 62 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008414 36
  • 57.72 (n)
  • 56.16 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9319 36
  • 56.77 (n)
  • 56.36 (a)
CG9319 37
  • 50 (a)
OneToOne
CG9319 38
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea C24A3.4 37
  • 41 (a)
OneToMany
CELE_ZK892.4 36
  • 50.7 (n)
  • 45.66 (a)
C24A3.4 38
  • 35 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04099 36
  • 55.76 (n)
  • 51.85 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7675 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Pseudogenes.org Pseudogenes for AMACR Gene

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

No data available for Paralogs for AMACR Gene

Variants for AMACR Gene

Sequence variations from dbSNP and Humsavar for AMACR Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
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

Relevant External Links for AMACR Gene

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

Disorders for AMACR Gene

(2) OMIM Diseases for AMACR Gene (604489)

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.

(4) University of Copenhagen DISEASES for AMACR Gene

(68) Novoseek inferred disease relationships for AMACR Gene

Disease -log(P) Hits PubMed IDs
prostatic intraepithelial neoplasia 78.3 20
prostatic adenocarcinoma 73.2 40
prostate cancer 71.9 218
prostate carcinoma 66.1 35
refsum disease 52.2 2

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

Publications for AMACR Gene

  1. Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. (PMID: 10655068) Ferdinandusse S. … Wanders R.J.A. (Nat. Genet. 2000) 3 4 23
  2. A variant of the alpha-methyl-acyl-CoA racemase gene created by a deletion in exon 5 and its expression in prostate cancer. (PMID: 15880524) Mubiru J.N. … Troyer D.A. (Prostate 2005) 3 4 23
  3. Polymorphic variants in alpha-methylacyl-CoA racemase and prostate cancer. (PMID: 17680641) Daugherty S.E. … Hayes R.B. (Prostate 2007) 3 23 49
  4. Sequence variation in alpha-methylacyl-CoA racemase and risk of early-onset and familial prostate cancer. (PMID: 17683075) Levin A.M. … Douglas J.A. (Prostate 2007) 3 23 49
  5. Variants in the alpha-Methylacyl-CoA racemase gene and the association with advanced distal colorectal adenoma. (PMID: 17684125) Daugherty S.E. … Hayes R.B. (Cancer Epidemiol. Biomarkers Prev. 2007) 3 23 49

Products for AMACR Gene

Sources for AMACR Gene

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