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ACSM1 (acyl-CoA synthetase medium-chain family member 1)

Identity

Other namesBUCS1
MACS1
HGNC (Hugo) ACSM1
LocusID (NCBI) 116285
Atlas_Id 50520
Location 16p12.3  [Link to chromosome band 16p12]
Location_base_pair Starts at 20634559 and ends at 20709110 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ACSM1 (16p12.3) / DNAH3 (16p12.3)IGF2BP3 (7p15.3) / ACSM1 (16p12.3)IKBKE (1q32.1) / ACSM1 (16p12.3)
KAT2A (17q21.2) / ACSM1 (16p12.3)ACSM1 16p12.3 / DNAH3 16p12.3IGF2BP3 7p15.3 / ACSM1 16p12.3
IKBKE 1q32.1 / ACSM1 16p12.3

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)ACSM1   18049
Cards
Entrez_Gene (NCBI)ACSM1  116285  acyl-CoA synthetase medium-chain family member 1
AliasesBUCS1; MACS1
GeneCards (Weizmann)ACSM1
Ensembl hg19 (Hinxton)ENSG00000166743 [Gene_View]  chr16:20634559-20709110 [Contig_View]  ACSM1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000166743 [Gene_View]  chr16:20634559-20709110 [Contig_View]  ACSM1 [Vega]
ICGC DataPortalENSG00000166743
TCGA cBioPortalACSM1
AceView (NCBI)ACSM1
Genatlas (Paris)ACSM1
WikiGenes116285
SOURCE (Princeton)ACSM1
Genomic and cartography
GoldenPath hg19 (UCSC)ACSM1  -     chr16:20634559-20709110 -  16p12.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ACSM1  -     16p12.3   [Description]    (hg38-Dec_2013)
EnsemblACSM1 - 16p12.3 [CytoView hg19]  ACSM1 - 16p12.3 [CytoView hg38]
Mapping of homologs : NCBIACSM1 [Mapview hg19]  ACSM1 [Mapview hg38]
OMIM614357   
Gene and transcription
Genbank (Entrez)AB059429 AK092574 AK314282 BC125177 BC125178
RefSeq transcript (Entrez)NM_001318890 NM_052956
RefSeq genomic (Entrez)NC_000016 NC_018927 NT_187260 NW_004929400
Consensus coding sequences : CCDS (NCBI)ACSM1
Cluster EST : UnigeneHs.306812 [ NCBI ]
CGAP (NCI)Hs.306812
Alternative Splicing GalleryENSG00000166743
Gene ExpressionACSM1 [ NCBI-GEO ]   ACSM1 [ EBI - ARRAY_EXPRESS ]   ACSM1 [ SEEK ]   ACSM1 [ MEM ]
Gene Expression Viewer (FireBrowse)ACSM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)116285
GTEX Portal (Tissue expression)ACSM1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ08AH1 (Uniprot)
NextProtQ08AH1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ08AH1
Splice isoforms : SwissVarQ08AH1 (Swissvar)
Catalytic activity : Enzyme6.2.1.2 [ Enzyme-Expasy ]   6.2.1.26.2.1.2 [ IntEnz-EBI ]   6.2.1.2 [ BRENDA ]   6.2.1.2 [ KEGG ]   
PhosPhoSitePlusQ08AH1
Domaine pattern : Prosite (Expaxy)AMP_BINDING (PS00455)   
Domains : Interpro (EBI)AMP-bd_C    AMP-binding_CS    AMP-dep_Synth/Lig   
Domain families : Pfam (Sanger)AMP-binding (PF00501)    AMP-binding_C (PF13193)   
Domain families : Pfam (NCBI)pfam00501    pfam13193   
DMDM Disease mutations116285
Blocks (Seattle)ACSM1
SuperfamilyQ08AH1
Human Protein AtlasENSG00000166743
Peptide AtlasQ08AH1
HPRD12551
IPIIPI00059184   IPI00867642   IPI00102229   IPI00976359   IPI00984943   
Protein Interaction databases
DIP (DOE-UCLA)Q08AH1
IntAct (EBI)Q08AH1
FunCoupENSG00000166743
BioGRIDACSM1
STRING (EMBL)ACSM1
ZODIACACSM1
Ontologies - Pathways
QuickGOQ08AH1
Ontology : AmiGOacyl-CoA ligase activity  ATP binding  GTP binding  mitochondrial matrix  mitochondrial matrix  fatty acid biosynthetic process  xenobiotic metabolic process  fatty acid ligase activity  energy derivation by oxidation of organic compounds  CoA-ligase activity  benzoate metabolic process  fatty acid oxidation  butyrate metabolic process  cholesterol homeostasis  metal ion binding  butyrate-CoA ligase activity  extracellular exosome  blood microparticle  
Ontology : EGO-EBIacyl-CoA ligase activity  ATP binding  GTP binding  mitochondrial matrix  mitochondrial matrix  fatty acid biosynthetic process  xenobiotic metabolic process  fatty acid ligase activity  energy derivation by oxidation of organic compounds  CoA-ligase activity  benzoate metabolic process  fatty acid oxidation  butyrate metabolic process  cholesterol homeostasis  metal ion binding  butyrate-CoA ligase activity  extracellular exosome  blood microparticle  
Pathways : BIOCARTAChREBP regulation by carbohydrates and cAMP [Genes]   
Pathways : KEGGButanoate metabolism   
NDEx Network
Atlas of Cancer Signalling NetworkACSM1
Wikipedia pathwaysACSM1
Orthology - Evolution
OrthoDB116285
GeneTree (enSembl)ENSG00000166743
Phylogenetic Trees/Animal Genes : TreeFamACSM1
Homologs : HomoloGeneACSM1
Homology/Alignments : Family Browser (UCSC)ACSM1
Gene fusions - Rearrangements
Fusion: TCGAACSM1 16p12.3 DNAH3 16p12.3 PRAD
Fusion: TCGAIGF2BP3 7p15.3 ACSM1 16p12.3 BRCA
Fusion: TCGAIKBKE 1q32.1 ACSM1 16p12.3 KIRC
Polymorphisms : SNP, variants
NCBI Variation ViewerACSM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACSM1
dbVarACSM1
ClinVarACSM1
1000_GenomesACSM1 
Exome Variant ServerACSM1
ExAC (Exome Aggregation Consortium)ACSM1 (select the gene name)
Genetic variants : HAPMAP116285
Genomic Variants (DGV)ACSM1 [DGVbeta]
Mutations
ICGC Data PortalACSM1 
TCGA Data PortalACSM1 
Broad Tumor PortalACSM1
OASIS PortalACSM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACSM1 
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 ACSM1
DgiDB (Drug Gene Interaction Database)ACSM1
DoCM (Curated mutations)ACSM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACSM1 (select a term)
intoGenACSM1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)16:20634559-20709110  ENSG00000166743
CONAN: Copy Number AnalysisACSM1 
Mutations and Diseases : HGMDACSM1
OMIM614357   
MedgenACSM1
Genetic Testing Registry ACSM1
NextProtQ08AH1 [Medical]
TSGene116285
GENETestsACSM1
Huge Navigator ACSM1 [HugePedia]
snp3D : Map Gene to Disease116285
BioCentury BCIQACSM1
ClinGenACSM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD116285
Chemical/Pharm GKB GenePA25468
Clinical trialACSM1
Miscellaneous
canSAR (ICR)ACSM1 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACSM1
EVEXACSM1
GoPubMedACSM1
iHOPACSM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 9 19:30:35 CEST 2016

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