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AMACR Gene

protein-coding   GIFtS: 64
GCID: GC05M033986

Alpha-Methylacyl-CoA Racemase

  See AMACR-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Alpha-Methylacyl-CoA Racemase1 2     RACE2
2-Methylacyl-CoA Racemase2 3     RM2
AMACRD2 5     EC 5.1.99.43
CBAS42 5     

External Ids:    HGNC: 4511   Entrez Gene: 236002   Ensembl: ENSG000002421107   OMIM: 6044895   UniProtKB: Q9UHK63   

Export aliases for AMACR gene to outside databases

Previous GC identifers: GC05M033933 GC05M034446 GC05M034032 GC05M034033 GC05M034023


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 bile acid synthesis defect, congenital, 4. GO annotations related to this gene include alpha-methylacyl-CoA racemase activity and receptor binding. An important paralog of this gene is SUGCT.

UniProtKB/Swiss-Prot: AMACR_HUMAN, Q9UHK6
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

Gene Wiki entry for AMACR Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_006576.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the AMACR gene promoter:
         PPAR-alpha   Sp1   FOXO1a   ATF   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAMACR promoter sequence
   Search Chromatin IP Primers for AMACR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AMACR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5p13   Ensembl cytogenetic band:  5p13.2   HGNC cytogenetic band: 5p13.2

AMACR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AMACR gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M033986:  view genomic region     (about GC identifiers)

Start:
33,986,283 bp from pter      End:
34,008,220 bp from pter
Size:
21,938 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AMACR_HUMAN, Q9UHK6 (See protein sequence)
Recommended Name: Alpha-methylacyl-CoA racemase  
Size: 382 amino acids; 42387 Da
Sequence caution: Sequence=ACL67853.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
Sequence=ACL67854.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; Sequence=CAB44062.1;
Type=Frameshift; Positions=62, 65, 114;
Secondary accessions: A5YM47 B8Y916 B8Y918 F8W9N1 O43673 Q3KT79 Q96GH1 Q9Y3Q1
Alternative splicing: 4 isoforms:  Q9UHK6-1   Q9UHK6-2   Q9UHK6-4   Q9UHK6-5   (Expression is elevated in prostate cancer)

Explore the universe of human proteins at neXtProt for AMACR: NX_Q9UHK6

Explore proteomics data for AMACR at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys135
  • Modification sites at PhosphoSitePlus

  • See AMACR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001161067.1  NP_055139.4  NP_976316.1  

    ENSEMBL proteins: 
     ENSP00000334424   ENSP00000371504   ENSP00000427227   ENSP00000371517   ENSP00000424351  
     ENSP00000476965   ENSP00000477411   ENSP00000477108   ENSP00000403800  
    Reactome Protein details: Q9UHK6

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR023606 CoA-Trfase_III_dom
     IPR003673 CoA-Trfase_fam_III

    Graphical View of Domain Structure for InterPro Entry Q9UHK6

    ProtoNet protein and cluster: Q9UHK6

    1 Blocks protein domain: IPB003673 L-carnitine dehydratase/bile acid-inducible protein F

    UniProtKB/Swiss-Prot: AMACR_HUMAN, Q9UHK6
    Similarity: Belongs to the CaiB/BaiF CoA-transferase family


    Find genes that share domains with AMACR           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AMACR_HUMAN, Q9UHK6
    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
    Catalytic activity: (2S)-2-methylacyl-CoA = (2R)-2-methylacyl-CoA

         Genatlas biochemistry entry for AMACR:
    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 Number (IUBMB): EC 5.1.99.41

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0005102receptor binding IPI11060344
    GO:0008111alpha-methylacyl-CoA racemase activity IMP10655068
         
    Find genes that share ontologies with AMACR           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Amacr):
     adipose tissue  growth/size/body  homeostasis/metabolism  liver/biliary system  mortality/aging 

    Find genes that share phenotypes with AMACR           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Amacrtm1Jkh for AMACR

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    miRTarBase miRNAs that target AMACR:
    hsa-mir-193b-3p (MIRT041573)

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    hsa-miR-7-1* hsa-miR-7-2* hsa-miR-889 hsa-miR-3065-5p hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidAMACR 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AMACR_HUMAN, Q9UHK6: Peroxisome. Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    peroxisome5
    cytoskeleton2
    nucleus2
    plasma membrane2
    cytosol1
    endoplasmic reticulum1
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA15941950
    GO:0005739mitochondrion IDA11060344
    GO:0005777peroxisome IDA11060344
    GO:0005782peroxisomal matrix TAS--

    Find genes that share ontologies with AMACR           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AMACR About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts0.88
    Synthesis of bile acids and bile salts via 24-hydroxycholesterol0.00
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.88
    Primary bile acid biosynthesis0.00
    Bile acid and bile salt metabolism0.73
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Peroxisomal lipid metabolism
    Peroxisomal lipid metabolism
    Beta-oxidation of pristanoyl-CoA0.00
    4Statin Pathway - Generalized, Pharmacokinetics
    Ibuprofen Pathway, Pharmacokinetics0.50
    5Selected targets of ESR1
    Selected targets of ESR1


    Find genes that share SuperPaths with AMACR           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for AMACR
        Glucose / Energy Metabolism


    3 Reactome Pathways for AMACR
        Synthesis of bile acids and bile salts via 24-hydroxycholesterol
    Beta-oxidation of pristanoyl-CoA
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol

    1 PharmGKB Pathway for AMACR
        Ibuprofen Pathway, Pharmacokinetics

    3 Kegg Pathways  (Kegg details for AMACR):
        Primary bile acid biosynthesis
    Metabolic pathways
    Peroxisome

    UniProtKB/Swiss-Prot: AMACR_HUMAN, Q9UHK6
    Pathway: Lipid metabolism; bile acid biosynthesis
    Pathway: Lipid metabolism; fatty acid metabolism

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AMACR
    Interactions:

        Search GeneGlobe Interaction Network for AMACR

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5 Interacting proteins for AMACR (Q9UHK63 ENSP000003344244) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    COA7Q96BR53I2D: score=4 
    ATP5G2Q060553I2D: score=2 
    ACOX2ENSP000003076974STRING: ENSP00000307697
    ACOX3ENSP000003487754STRING: ENSP00000348775
    SLC27A5ENSP000002630934STRING: ENSP00000263093
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006699bile acid biosynthetic process TAS--
    GO:0008152metabolic process ----
    GO:0008206bile acid metabolic process TAS--
    GO:0033540fatty acid beta-oxidation using acyl-CoA oxidase TAS--
    GO:0044255cellular lipid metabolic process TAS--

    Find genes that share ontologies with AMACR           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Tocris compounds for AMACR

    2 HMDB Compounds for AMACR    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heptanoyl-CoA2-methyloctanoyl CoA, 21 (see all 2)----
    Pristanoyl-CoA3-Oxopristanoyl-CoA (see all 4)----

    Selected Novoseek inferred chemical compound relationships for AMACR gene (see all 35)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    trihydroxycholestanoic acid 83.2 3 11160375 (1), 11060359 (1), 11861706 (1)
    pristanic acid 80.9 15 11893780 (2), 11060359 (2), 11160375 (1), 10709653 (1) (see all 10)
    phytanic acid 69.9 9 15712232 (1), 18080240 (1), 12917210 (1), 11948235 (1) (see all 7)
    ddp-cr 51.2 2 9196290 (1), 11460706 (1)
    adenylate 37.3 9 9602125 (1), 11032382 (1), 15639812 (1), 17406530 (1) (see all 5)
    acyl-coa 29.4 8 11473573 (2), 11356171 (1), 11992265 (1), 9803880 (1)
    oligonucleotide 29.3 6 11126119 (1), 7589466 (1), 17208011 (1), 19837043 (1) (see all 5)
    fatty acid 24.7 18 15599942 (2), 11356171 (1), 11956072 (1), 15632186 (1) (see all 13)
    hematoxylin 23.1 5 16681682 (1), 15043314 (1), 15832080 (1), 17069678 (1)
    methionine 20.8 2 8011166 (1), 7753485 (1)



    Find genes that share compounds with AMACR           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for AMACR gene (6 alternative transcripts): 
    NM_001167595.1  NM_014324.5  NM_203382.2  NM_001167596.1  NM_001167597.1  NM_001167598.1  

    Unigene Cluster for AMACR:

    Alpha-methylacyl-CoA racemase
    Hs.508343  [show with all ESTs]
    Unigene Representative Sequence: NM_014324
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000335606(uc003jij.3 uc003jig.3 uc003jih.3) ENST00000382072
    ENST00000506639 ENST00000514195 ENST00000382085 ENST00000502637 ENST00000426255(uc003jik.2 uc003jil.2)
    ENST00000512079 ENST00000382068 ENST00000441713
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    Additional mRNA sequence: 

    AF047020.1 AF158378.1 AJ130733.1 AK000912.1 AK022765.1 AK222831.1 AK225749.1 AK292988.1 
    AY330488.1 AY330489.1 AY935981.1 BC009471.1 BT007193.1 EF560721.1 FJ498906.1 FJ498907.1 
    FJ498908.1 

    8 DOTS entries:

    DT.309182  DT.92449921  DT.101973657  DT.92449924  DT.97770152  DT.92449923  DT.308935  DT.92009684 

    Selected AceView cDNA sequences (see all 212):

    AA534857 BF858182 CR618063 AW293739 AI369058 AI521218 AA969459 AI468850 
    BE670233 AI538685 BF858148 AA888589 AA357593 NM_203382 CR616479 BF196011 
    NM_014324 CR615811 BU071196 AW473991 AW140056 AW338481 BQ009670 AI215841 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AMACR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    AMACR Expression
    About this image


    AMACR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Outflow Tract
     
     Kidney (Urinary System)
     
     Prostate (Endocrine System)
    AMACR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AMACR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.508343
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for AMACR gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Amacr1 , 5 alpha-methylacyl-CoA racemase1, 5 79.7(n)1
    77.43(a)1
      15 (5.39 cM)5
    171171  NM_008537.41  NP_032563.21 
     109817565 
    chicken
    (Gallus gallus)
    Aves AMACR1 alpha-methylacyl-CoA racemase 71.12(n)
    71.73(a)
      427429  NM_001031448.1  NP_001026619.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.102222 Xenopus laevis transcribed sequence with weak similarity more 76.53(n)    BJ628374.1 
    zebrafish
    (Danio rerio)
    Actinopterygii c1qtnf31 C1q and tumor necrosis factor related protein 3 60.91(n)
    62.83(a)
      553653  NM_001020626.1  NP_001018462.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG93191 , 3 alpha-methylacyl-CoA racemase3
    CG93191
    44(a)3
    56.77(n)1
    56.36(a)1
      38E43
    353371  NM_001273709.11  NP_001260638.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C24A3.43
    CELE_ZK892.41
    E. coli L-carnitine dehydratase3
    CELE_ZK892.41
    35(a)3
    50.7(n)1
    45.66(a)1
      X(9027321-9028227)3
    1745591  NM_063762.21  NP_496163.21 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AMACR gene
    SUGCT2  

    Find genes that share paralogs with AMACR           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for AMACR
    PGOHUM00000243418


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AMACR (see all 444)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0106654
    Congenital bile acid synthesis defect 4 (CBAS4)4--see VAR_0106652 L P mis40--------
    VAR_0106614
    Congenital bile acid synthesis defect 4 (CBAS4)4--see VAR_0106612 S P mis40--------
    rs1219178161,2
    Cpathogenic133948075(-) CAGGCC/TGAGTG 6 P L mis10--------
    rs1219178141,2
    Cpathogenic133950114(-) AGCGCC/TCGCTA 6 P S mis10--------
    rs1422433451,2
    C--33932236(+) ATTCA-/TTTATC
            
    TTTAT
    3 -- int10--------
    rs1862046991,2
    --33932261(+) ATAAAA/CGAGCT 3 -- int10--------
    rs104729081,2
    C,F,H--33932297(+) GTATAG/CTGCAA 3 -- int115Minor allele frequency- C:0.11NS EA NA WA CSA 674
    rs770794731,2
    C,F--33932350(+) AGTTCA/CAGGCC 3 -- int12Minor allele frequency- C:0.11WA EA 238
    rs1918979731,2
    --33932380(+) AGACCA/CCCATC 3 -- int10--------
    rs1142296581,2
    F--33932411(+) TCCATC/TCATCC 3 -- int11Minor allele frequency- T:0.01WA 118

    HapMap Linkage Disequilibrium report for AMACR (33986283 - 34008220 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for AMACR:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv32686CNV Loss17666407
    nsv830255CNV Loss17160897
    nsv519240CNV Gain19592680
    nsv522715CNV Gain19592680
    esv33890CNV Gain+Loss17666407

    Human Gene Mutation Database (HGMD): AMACR
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AMACR
    DNA2.0 Custom Variant and Variant Library Synthesis for AMACR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604489   
    OMIM disorders: 614307  214950  
    UniProtKB/Swiss-Prot: AMACR_HUMAN, Q9UHK6
  • 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. 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 17 diseases for AMACR:    
    About MalaCards
    alpha-methylacyl-coa racemase deficiency    bile acid synthesis defect, congenital, 4    tubulocystic carcinoma    papillary adenoma
    congenital bile acid synthesis defect    adrenomyeloneuropathy    clear cell papillary renal cell carcinoma    ovarian mucinous adenocarcinoma
    mucinous tubular and spindle cell carcinoma    pigmentary retinopathy    thiolase deficiency    nephrogenic adenoma
    bile duct adenoma    papillary renal cell carcinoma    metanephric adenoma    lung cancer
    prostate cancer

    4 diseases from the University of Copenhagen DISEASES database for AMACR:
    Prostate cancer     Nephrogenic adenoma     Carcinoma     Renal cell carcinoma

    Find genes that share disorders with AMACR           About GenesLikeMe

    Selected Novoseek inferred disease relationships for AMACR gene (see all 68)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prostatic intraepithelial neoplasia 78.3 25 18343427 (6), 15602744 (2), 11926890 (1), 15297968 (1) (see all 14)
    prostatic adenocarcinoma 73.2 48 16938524 (4), 15330799 (4), 12893336 (3), 15743746 (3) (see all 22)
    prostate cancer 71.9 332 15941951 (10), 15173267 (8), 11926890 (8), 11956072 (7) (see all 98)
    prostate carcinoma 66.1 41 15743746 (3), 17134736 (3), 17527076 (3), 16932031 (3) (see all 24)
    refsum disease 52.2 3 17956237 (1), 19703563 (1)
    oncocytoma 51.5 6 14707866 (1), 15858144 (1), 16166433 (1), 18036175 (1)
    zellweger syndrome 50.9 5 11160375 (1), 18577977 (1), 19703563 (1)
    carcinoma spindle cell 48.9 2 16330937 (2)
    adenocarcinoma 48.5 52 15958853 (5), 15725808 (3), 14739905 (3), 17550379 (2) (see all 25)
    carcinoma 45.7 40 15941950 (5), 17550379 (3), 17652945 (3), 17008281 (3) (see all 22)

    Genatlas disease: AMACR
    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

    Genetic Association Database (GAD): AMACR
    Human Genome Epidemiology (HuGE) Navigator: AMACR (12 documents)

    Export disorders for AMACR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AMACR gene, integrated from 10 sources (see all 371):
    (articles sorted by number of sources associating them with AMACR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Polymorphic variants in alpha-methylacyl-CoA racemase and prostate cancer. (PubMed id 17680641)1, 4, 9 Daugherty S.E....Hayes R.B. (Prostate 2007)
    2. A variant of the alpha-methyl-acyl-CoA racemase gene created by a deletion in exon 5 and its expression in prostate cancer. (PubMed id 15880524)1, 2, 9 Mubiru J.N.... Troyer D.A. (Prostate 2005)
    3. Sequence variants of alpha-methylacyl-CoA racemase are associated with prostate cancer risk: a replication study in an ethnically homogeneous population. (PubMed id 18537123)1, 4, 9 FitzGerald L.M....Dickinson J.L. (Prostate 2008)
    4. Sequence variation in alpha-methylacyl-CoA racemase and risk of early-onset and familial prostate cancer. (PubMed id 17683075)1, 4, 9 Levin A.M....Douglas J.A. (Prostate 2007)
    5. Variants in the alpha-Methylacyl-CoA racemase gene and the association with advanced distal colorectal adenoma. (PubMed id 17684125)1, 4, 9 Daugherty S.E....Hayes R.B. (amp 2007)
    6. Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. (PubMed id 10655068)1, 2, 9 Ferdinandusse S....Wanders R.J.A. (Nat. Genet. 2000)
    7. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    8. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    9. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (Respir Med 2009)
    10. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PubMed id 19170196)1, 4 Shen M....Lan Q. (Environ. Mol. Mutagen. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23600 HGNC: 451 AceView: AMACR Ensembl:ENSG00000242110 euGenes: HUgn23600
    ECgene: AMACR Kegg: 23600 H-InvDB: AMACR

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AMACR Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AMACR Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=AMACR[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AMACR gene:
    Search GeneIP for patents involving AMACR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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