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AMACR (alpha-methylacyl-CoA racemase)

Identity

Other namesAMACRD
CBAS4
RACE
RM
HGNC (Hugo) AMACR
LocusID (NCBI) 23600
Atlas_Id 52843
Location 5p13.2
Location_base_pair Starts at 33987091 and ends at 34008220 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AMACR (5p13.2) / SLC45A2 (5p13.2)C1QTNF3 (5p13.2) / AMACR (5p13.2)FGFR1 (8p11.23) / AMACR (5p13.2)
PSMG3 (7p22.3) / AMACR (5p13.2)SDK1 (7p22.2) / AMACR (5p13.2)SLC45A2 (5p13.2) / AMACR (5p13.2)
TYMS (18p11.32) / AMACR (5p13.2)SLC45A2 5p13.2 / AMACR 5p13.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)AMACR   451
Cards
Entrez_Gene (NCBI)AMACR  23600  alpha-methylacyl-CoA racemase
AliasesAMACRD; CBAS4; RACE; RM
GeneCards (Weizmann)AMACR
Ensembl hg19 (Hinxton)ENSG00000242110 [Gene_View]  chr5:33987091-34008220 [Contig_View]  AMACR [Vega]
Ensembl hg38 (Hinxton)ENSG00000242110 [Gene_View]  chr5:33987091-34008220 [Contig_View]  AMACR [Vega]
ICGC DataPortalENSG00000242110
TCGA cBioPortalAMACR
AceView (NCBI)AMACR
Genatlas (Paris)AMACR
WikiGenes23600
SOURCE (Princeton)AMACR
Genomic and cartography
GoldenPath hg19 (UCSC)AMACR  -     chr5:33987091-34008220 -  5p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AMACR  -     5p13.2   [Description]    (hg38-Dec_2013)
EnsemblAMACR - 5p13.2 [CytoView hg19]  AMACR - 5p13.2 [CytoView hg38]
Mapping of homologs : NCBIAMACR [Mapview hg19]  AMACR [Mapview hg38]
OMIM214950   604489   614307   
Gene and transcription
Genbank (Entrez)AA969512 AF047020 AF158378 AJ130733 AK000912
RefSeq transcript (Entrez)NM_001167595 NM_001167596 NM_001167597 NM_001167598 NM_014324 NM_203382
RefSeq genomic (Entrez)NC_000005 NC_018916 NG_016211 NT_006576 NW_004929321
Consensus coding sequences : CCDS (NCBI)AMACR
Cluster EST : UnigeneHs.508343 [ NCBI ]
CGAP (NCI)Hs.508343
Alternative Splicing GalleryENSG00000242110
Gene ExpressionAMACR [ NCBI-GEO ]   AMACR [ EBI - ARRAY_EXPRESS ]   AMACR [ SEEK ]   AMACR [ MEM ]
Gene Expression Viewer (FireBrowse)AMACR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23600
GTEX Portal (Tissue expression)AMACR
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHK6 (Uniprot)
NextProtQ9UHK6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHK6
Splice isoforms : SwissVarQ9UHK6 (Swissvar)
Catalytic activity : Enzyme5.1.99.4 [ Enzyme-Expasy ]   5.1.99.45.1.99.4 [ IntEnz-EBI ]   5.1.99.4 [ BRENDA ]   5.1.99.4 [ KEGG ]   
PhosPhoSitePlusQ9UHK6
Domains : Interpro (EBI)CoA-Trfase_fam_III    CoA-Trfase_III_dom   
Domain families : Pfam (Sanger)CoA_transf_3 (PF02515)   
Domain families : Pfam (NCBI)pfam02515   
DMDM Disease mutations23600
Blocks (Seattle)AMACR
SuperfamilyQ9UHK6
Human Protein AtlasENSG00000242110
Peptide AtlasQ9UHK6
HPRD05134
IPIIPI00914928   IPI00930713   IPI00930327   IPI01017887   IPI00964368   IPI00005918   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHK6
IntAct (EBI)Q9UHK6
FunCoupENSG00000242110
BioGRIDAMACR
STRING (EMBL)AMACR
ZODIACAMACR
Ontologies - Pathways
QuickGOQ9UHK6
Ontology : AmiGOreceptor binding  cytoplasm  mitochondrion  peroxisome  peroxisomal matrix  bile acid biosynthetic process  bile acid biosynthetic process  alpha-methylacyl-CoA racemase activity  alpha-methylacyl-CoA racemase activity  alpha-methylacyl-CoA racemase activity  bile acid metabolic process  fatty acid beta-oxidation using acyl-CoA oxidase  
Ontology : EGO-EBIreceptor binding  cytoplasm  mitochondrion  peroxisome  peroxisomal matrix  bile acid biosynthetic process  bile acid biosynthetic process  alpha-methylacyl-CoA racemase activity  alpha-methylacyl-CoA racemase activity  alpha-methylacyl-CoA racemase activity  bile acid metabolic process  fatty acid beta-oxidation using acyl-CoA oxidase  
Pathways : KEGGPrimary bile acid biosynthesis    Peroxisome   
NDEx Network
Atlas of Cancer Signalling NetworkAMACR
Wikipedia pathwaysAMACR
Orthology - Evolution
OrthoDB23600
GeneTree (enSembl)ENSG00000242110
Phylogenetic Trees/Animal Genes : TreeFamAMACR
Homologs : HomoloGeneAMACR
Homology/Alignments : Family Browser (UCSC)AMACR
Gene fusions - Rearrangements
Fusion: TCGASLC45A2 5p13.2 AMACR 5p13.2 BLCA
Polymorphisms : SNP, variants
NCBI Variation ViewerAMACR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AMACR
dbVarAMACR
ClinVarAMACR
1000_GenomesAMACR 
Exome Variant ServerAMACR
ExAC (Exome Aggregation Consortium)AMACR (select the gene name)
Genetic variants : HAPMAP23600
Genomic Variants (DGV)AMACR [DGVbeta]
Mutations
ICGC Data PortalAMACR 
TCGA Data PortalAMACR 
Broad Tumor PortalAMACR
OASIS PortalAMACR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAMACR 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch AMACR
DgiDB (Drug Gene Interaction Database)AMACR
DoCM (Curated mutations)AMACR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AMACR (select a term)
intoGenAMACR
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)5:33987091-34008220  ENSG00000242110
CONAN: Copy Number AnalysisAMACR 
Mutations and Diseases : HGMDAMACR
OMIM214950    604489    614307   
MedgenAMACR
Genetic Testing Registry AMACR
NextProtQ9UHK6 [Medical]
TSGene23600
GENETestsAMACR
Huge Navigator AMACR [HugePedia]
snp3D : Map Gene to Disease23600
BioCentury BCIQAMACR
ClinGenAMACR
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23600
Chemical/Pharm GKB GenePA24757
Clinical trialAMACR
Miscellaneous
canSAR (ICR)AMACR (select the gene name)
Probes
Litterature
PubMed100 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAMACR
EVEXAMACR
GoPubMedAMACR
iHOPAMACR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 10:53:37 CEST 2016

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