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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
  • 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 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

Additional gene information for AMACR Gene

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

Genomics for AMACR Gene

Regulatory Elements for AMACR Gene

Enhancers for AMACR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H034006 1.7 FANTOM5 ENCODE dbSUPER 103.5 -0.5 -542 4 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ZNF143 ZNF207 AMACR ENSG00000249572 BRIX1 TTC23L LOC643373 C1QTNF3
GH05H034000 1.6 FANTOM5 Ensembl ENCODE dbSUPER 49 +6.4 6407 1 TFAP4 FOXA2 RFX5 YY1 SCRT2 FOS ZNF600 RFX1 FOXA3 HLF AMACR ENSG00000250767
GH05H034033 1.1 ENCODE dbSUPER 29.4 -26.5 -26501 2 ELF3 FOXA2 ATF1 RARA YY1 CREM MIXL1 THAP11 REST ELF1 AMACR C1QTNF3
GH05H034036 0.6 ENCODE 40.7 -30.0 -29961 2 SREBF1 PKNOX1 ZNF362 PRDM6 RFX1 BCL6B CEBPB CEBPG ATF2 AMACR C1QTNF3
GH05H034014 0.8 ENCODE dbSUPER 28.5 -7.5 -7471 1 RNF2 EGR1 NR2F1 JUNB RUNX3 BATF CREM AMACR C1QTNF3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AMACR on UCSC Golden Path with GeneCards custom track

Promoters for AMACR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000179276 15 1801 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ZNF143 ZNF207 DEK

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

Post-translational modifications for AMACR Gene

  • Ubiquitination at Lys135
  • Modification sites at PhosphoSitePlus

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

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

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:0005102 receptor binding IPI 20178365
GO:0008111 alpha-methylacyl-CoA racemase activity TAS --
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

Clone Products

  • Applied Biological Materials Clones for AMACR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , 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 3
cytoskeleton 2
nucleus 2
extracellular 1
endoplasmic reticulum 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 IDA,IEA 7649182
GO:0005782 peroxisomal matrix TAS --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with AMACR: view

Pathways & Interactions 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.

Gene Ontology (GO) - Biological Process for AMACR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006631 fatty acid metabolic process IEA --
GO:0006699 bile acid biosynthetic process TAS,IEA --
GO:0008206 bile acid metabolic process IDA 10655068
GO:0033540 fatty acid beta-oxidation using acyl-CoA oxidase 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: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholic acid Approved Pharma Full agonist, Agonist 0

(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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AMACR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for AMACR Gene



NURSA nuclear receptor signaling pathways regulating expression of AMACR Gene:

AMACR

SOURCE GeneReport for Unigene cluster for AMACR Gene:

Hs.508343

Evidence on tissue expression from TISSUES for AMACR Gene

  • Kidney(4.7)
  • Liver(4.5)
  • Nervous system(2.5)
  • Skin(2.2)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AMACR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • mouth
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • large intestine
  • liver
  • pancreas
  • small intestine
General:
  • blood
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with AMACR: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia AMACR 33
  • 99.03 (n)
dog
(Canis familiaris)
Mammalia AMACR 33 34
  • 84.12 (n)
cow
(Bos Taurus)
Mammalia AMACR 33 34
  • 83.94 (n)
rat
(Rattus norvegicus)
Mammalia Amacr 33
  • 80.02 (n)
mouse
(Mus musculus)
Mammalia Amacr 33 16 34
  • 79.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AMACR 34
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AMACR 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves AMACR 33 34
  • 71.12 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia amacr 33
  • 63.53 (n)
Str.15645 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.10222 33
zebrafish
(Danio rerio)
Actinopterygii c1qtnf3 33 34
  • 60.91 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008414 33
  • 57.72 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9319 35 33 34
  • 56.77 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_ZK892.4 33
  • 50.7 (n)
C24A3.4 35 34
  • 35 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04099 33
  • 55.76 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7675 33
Species where no ortholog for AMACR was found in the sources mined by GeneCards:
  • 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
rs121917814 Pathogenic, Alpha-methylacyl-CoA racemase deficiency (AMACRD) [MIM:614307], Congenital bile acid synthesis defect 4 (CBAS4) [MIM:214950] 34,007,866(-) AGCGC(C/T)CGCTA intron-variant, reference, missense
rs121917816 Pathogenic, Congenital bile acid synthesis defect 4 (CBAS4) [MIM:214950] 34,005,827(-) CAGGC(C/T)GAGTG nc-transcript-variant, reference, missense
rs10941112 Likely benign 34,004,602(-) CACTG(A/G)CAAGG intron-variant, reference, missense
rs113746028 Likely benign 33,987,132(+) CCTGC(C/T)CCACC nc-transcript-variant, utr-variant-3-prime
rs116206502 Likely benign 33,987,289(+) CATAA(A/C)CTTAT nc-transcript-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv32686 CNV loss 17666407
esv33890 CNV gain+loss 17666407
esv3604666 CNV gain 21293372
esv3604667 CNV loss 21293372
nsv1019937 CNV loss 25217958
nsv519240 CNV gain 19592680
nsv522715 CNV gain 19592680
nsv830255 CNV loss 17160897

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

Human Gene Mutation Database (HGMD)
AMACR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AMACR

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

Disorders for AMACR Gene

MalaCards: The human disease database

(34) MalaCards diseases for AMACR Gene - From: HGMD, OMIM, ClinVar, 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
  • amacr deficiency
nephrogenic adenoma
  • nephrogenic metaplasia
metanephric adenoma
spindle cell carcinoma
  • sarcomatoid carcinoma
- 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. Sequence variants of alpha-methylacyl-CoA racemase are associated with prostate cancer risk: a replication study in an ethnically homogeneous population. (PMID: 18537123) FitzGerald LM … Dickinson JL (The Prostate 2008) 3 22 45 60
  2. Variants in the alpha-Methylacyl-CoA racemase gene and the association with advanced distal colorectal adenoma. (PMID: 17684125) Daugherty SE … Hayes RB (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2007) 3 22 45 60
  3. Sequence variation in alpha-methylacyl-CoA racemase and risk of early-onset and familial prostate cancer. (PMID: 17683075) Levin AM … Douglas JA (The Prostate 2007) 3 22 45 60
  4. Polymorphic variants in alpha-methylacyl-CoA racemase and prostate cancer. (PMID: 17680641) Daugherty SE … Hayes RB (The Prostate 2007) 3 22 45 60
  5. 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 JN … Troyer DA (The Prostate 2005) 3 4 22 60

Products for AMACR Gene

Sources for AMACR Gene

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