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AMACR (alpha-methylacyl-CoA racemase)

Identity

Other namesAMACRD
CBAS4
RACE
RM
HGNC (Hugo) AMACR
LocusID (NCBI) 23600
Location 5p13.2
Location_base_pair Starts at 33987091 and ends at 34008220 bp from pter ( according to hg19-Feb_2009)
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
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
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)AC_000137 NC_000005 NC_018916 NG_016211 NT_006576 NW_001838929 NW_004929321
Consensus coding sequences : CCDS (NCBI)AMACR
Cluster EST : UnigeneHs.508343 [ NCBI ]
CGAP (NCI)Hs.508343
Alternative Splicing : Fast-db (Paris)GSHG0024706
Alternative Splicing GalleryENSG00000242110
Gene ExpressionAMACR [ NCBI-GEO ]     AMACR [ SEEK ]   AMACR [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHK6 (Uniprot)
NextProtQ9UHK6  [Medical]
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 ]   
Domains : Interpro (EBI)CoA-Trfase_fam_III    CoA-Trfase_III_dom   
Related proteins : CluSTrQ9UHK6
Domain families : Pfam (Sanger)CoA_transf_3 (PF02515)   
Domain families : Pfam (NCBI)pfam02515   
DMDM Disease mutations23600
Blocks (Seattle)Q9UHK6
Human Protein AtlasENSG00000242110
Peptide AtlasQ9UHK6
HPRD05134
IPIIPI00914928   IPI00930713   IPI00930327   IPI01017887   IPI00964368   IPI00005918   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHK6
IntAct (EBI)Q9UHK6
FunCoupENSG00000242110
BioGRIDAMACR
IntegromeDBAMACR
STRING (EMBL)AMACR
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  bile acid metabolic process  bile acid metabolic process  fatty acid beta-oxidation using acyl-CoA oxidase  cellular lipid metabolic process  small molecule metabolic process  
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  bile acid metabolic process  bile acid metabolic process  fatty acid beta-oxidation using acyl-CoA oxidase  cellular lipid metabolic process  small molecule metabolic process  
Pathways : KEGGPrimary bile acid biosynthesis    Peroxisome   
Protein Interaction DatabaseAMACR
DoCM (Curated mutations)AMACR
Wikipedia pathwaysAMACR
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerAMACR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AMACR
dbVarAMACR
ClinVarAMACR
1000_GenomesAMACR 
Exome Variant ServerAMACR
SNP (GeneSNP Utah)AMACR
SNP : HGBaseAMACR
Genetic variants : HAPMAPAMACR
Genomic VariantsAMACR  AMACR [DGVbeta]
Mutations
ICGC Data PortalENSG00000242110 
Somatic Mutations in Cancer : COSMICAMACR 
CONAN: Copy Number AnalysisAMACR 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)5:33987091-34008220
Mutations and Diseases : HGMDAMACR
OMIM214950    604489    614307   
MedgenAMACR
NextProtQ9UHK6 [Medical]
GENETestsAMACR
Disease Genetic AssociationAMACR
Huge Navigator AMACR [HugePedia]  AMACR [HugeCancerGEM]
snp3D : Map Gene to Disease23600
DGIdb (Drug Gene Interaction db)AMACR
General knowledge
Homologs : HomoloGeneAMACR
Homology/Alignments : Family Browser (UCSC)AMACR
Phylogenetic Trees/Animal Genes : TreeFamAMACR
Chemical/Protein Interactions : CTD23600
Chemical/Pharm GKB GenePA24757
Clinical trialAMACR
Cancer Resource (Charite)ENSG00000242110
Other databases
Probes
Litterature
PubMed91 Pubmed reference(s) in Entrez
CoreMineAMACR
GoPubMedAMACR
iHOPAMACR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 20:06:16 CET 2014

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