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AMACR (alpha-methylacyl-CoA racemase)

Identity

Alias (NCBI)AMACRD
CBAS4
P504S
RACE
RM
HGNC (Hugo) AMACR
HGNC Alias symbRACE
P504S
LocusID (NCBI) 23600
Atlas_Id 52843
Location 5p13.2  [Link to chromosome band 5p13]
Location_base_pair Starts at 33986165 and ends at 34008050 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    alpha-methylacyl-CoA racemase
AliasesAMACRD; CBAS4; P504S; RACE; 
RM
GeneCards (Weizmann)AMACR
Ensembl hg19 (Hinxton)ENSG00000242110 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000242110 [Gene_View]  ENSG00000242110 [Sequence]  chr5:33986165-34008050 [Contig_View]  AMACR [Vega]
ICGC DataPortalENSG00000242110
TCGA cBioPortalAMACR
AceView (NCBI)AMACR
Genatlas (Paris)AMACR
SOURCE (Princeton)AMACR
Genetics Home Reference (NIH)AMACR
Genomic and cartography
GoldenPath hg38 (UCSC)AMACR  -     chr5:33986165-34008050 -  5p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AMACR  -     5p13.2   [Description]    (hg19-Feb_2009)
GoldenPathAMACR - 5p13.2 [CytoView hg19]  AMACR - 5p13.2 [CytoView hg38]
ImmunoBaseENSG00000242110
Genome Data Viewer NCBIAMACR [Mapview hg19]  
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
Consensus coding sequences : CCDS (NCBI)AMACR
Gene ExpressionAMACR [ NCBI-GEO ]   AMACR [ EBI - ARRAY_EXPRESS ]   AMACR [ SEEK ]   AMACR [ MEM ]
Gene Expression Viewer (FireBrowse)AMACR [ Firebrowse - Broad ]
GenevisibleExpression of AMACR in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23600
GTEX Portal (Tissue expression)AMACR
Human Protein AtlasENSG00000242110-AMACR [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHK6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UHK6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHK6
PhosPhoSitePlusQ9UHK6
Domains : Interpro (EBI)CoA-Trfase_fam_III    CoA-Trfase_III_dom_sf   
Domain families : Pfam (Sanger)CoA_transf_3 (PF02515)   
Domain families : Pfam (NCBI)pfam02515   
Conserved Domain (NCBI)AMACR
SuperfamilyQ9UHK6
AlphaFold pdb e-kbQ9UHK6   
Human Protein Atlas [tissue]ENSG00000242110-AMACR [tissue]
HPRD05134
Protein Interaction databases
DIP (DOE-UCLA)Q9UHK6
IntAct (EBI)Q9UHK6
BioGRIDAMACR
STRING (EMBL)AMACR
ZODIACAMACR
Ontologies - Pathways
QuickGOQ9UHK6
Ontology : AmiGOcytoplasm  mitochondrion  peroxisome  peroxisomal matrix  cytosol  plasma membrane  bile acid biosynthetic process  bile acid biosynthetic process  protein localization  alpha-methylacyl-CoA racemase activity  alpha-methylacyl-CoA racemase activity  bile acid metabolic process  CoA-transferase activity  fatty acid beta-oxidation using acyl-CoA oxidase  intracellular membrane-bounded organelle  
Ontology : EGO-EBIcytoplasm  mitochondrion  peroxisome  peroxisomal matrix  cytosol  plasma membrane  bile acid biosynthetic process  bile acid biosynthetic process  protein localization  alpha-methylacyl-CoA racemase activity  alpha-methylacyl-CoA racemase activity  bile acid metabolic process  CoA-transferase activity  fatty acid beta-oxidation using acyl-CoA oxidase  intracellular membrane-bounded organelle  
Pathways : KEGGPrimary bile acid biosynthesis    Peroxisome   
NDEx NetworkAMACR
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 : MitelmanSDK1/AMACR [7p22.2/5p13.2]  
Fusion : MitelmanSLC45A2/AMACR [5p13.2/5p13.2]  
Fusion : QuiverAMACR
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAMACR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AMACR
dbVarAMACR
ClinVarAMACR
MonarchAMACR
1000_GenomesAMACR 
Exome Variant ServerAMACR
GNOMAD BrowserENSG00000242110
Varsome BrowserAMACR
ACMGAMACR variants
VarityQ9UHK6
Genomic Variants (DGV)AMACR [DGVbeta]
DECIPHERAMACR [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAMACR 
Mutations
ICGC Data PortalAMACR 
TCGA Data PortalAMACR 
Broad Tumor PortalAMACR
OASIS PortalAMACR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAMACR  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DAMACR
Mutations and Diseases : HGMDAMACR
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaAMACR
DgiDB (Drug Gene Interaction Database)AMACR
DoCM (Curated mutations)AMACR
CIViC (Clinical Interpretations of Variants in Cancer)AMACR
Cancer3DAMACR
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM214950    604489    614307   
Orphanet11137   
DisGeNETAMACR
MedgenAMACR
Genetic Testing Registry AMACR
NextProtQ9UHK6 [Medical]
GENETestsAMACR
Target ValidationAMACR
Huge Navigator AMACR [HugePedia]
ClinGenAMACR
Clinical trials, drugs, therapy
MyCancerGenomeAMACR
Protein Interactions : CTDAMACR
Pharm GKB GenePA24757
Pharm GKB PathwaysPA166041114   
PharosQ9UHK6
Clinical trialAMACR
Miscellaneous
canSAR (ICR)AMACR
HarmonizomeAMACR
DataMed IndexAMACR
Probes
Litterature
PubMed120 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXAMACR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 14:59:13 CEST 2021

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