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ACACA (acetyl-CoA carboxylase alpha)

Identity

Alias_namesACAC
ACC
acetyl-Coenzyme A carboxylase alpha
Alias_symbol (synonym)ACC1
Other aliasACACAD
ACCA
HGNC (Hugo) ACACA
LocusID (NCBI) 31
Atlas_Id 42971
Location 17q12  [Link to chromosome band 17q12]
Location_base_pair Starts at 37084992 and ends at 37406811 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ACACA (17q12) / ASIC2 (17q11.2)ACACA (17q12) / DDX52 (17q12)ACACA (17q12) / MGME1 (20p11.23)
ACACA (17q12) / PRKDC (8q11.21)ACACA (17q12) / SGTB (5q12.3)ACACA (17q12) / SRCIN1 (17q12)
ACACA (17q12) / STAC2 (17q12)ACACA (17q12) / TADA2A (17q12)CALR (19p13.2) / ACACA (17q12)
DOK3 (5q35.3) / ACACA (17q12)KMT2A (11q23.3) / ACACA (17q12)LOC100233209 () / ACACA (17q12)
MYO1D (17q11.2) / ACACA (17q12)NCOR1 (17p12) / ACACA (17q12)NF1 (17q11.2) / ACACA (17q12)
RGPD5 (2q13) / ACACA (17q12)ACACA 17q12 ACCN1ACACA 17q12 C20orf72
ACACA 17q12 / SRCIN1 17q12ACACA 17q12 / TADA2A 17q12MYO1D 17q11.2 / ACACA 17q12
NCOR1 17p12 / ACACA 17q12NF1 17q11.2 / ACACA 17q12

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(11;17)(q23;q12-21) KMT2A/MMLT6
t(11;17)(q23;q12-21) KMT2A/LASP1


External links

Nomenclature
HGNC (Hugo)ACACA   84
Cards
Entrez_Gene (NCBI)ACACA  31  acetyl-CoA carboxylase alpha
AliasesACAC; ACACAD; ACC; ACC1; 
ACCA
GeneCards (Weizmann)ACACA
Ensembl hg19 (Hinxton)ENSG00000278540 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000278540 [Gene_View]  chr17:37084992-37406811 [Contig_View]  ACACA [Vega]
ICGC DataPortalENSG00000278540
TCGA cBioPortalACACA
AceView (NCBI)ACACA
Genatlas (Paris)ACACA
WikiGenes31
SOURCE (Princeton)ACACA
Genetics Home Reference (NIH)ACACA
Genomic and cartography
GoldenPath hg38 (UCSC)ACACA  -     chr17:37084992-37406811 -  17q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ACACA  -     17q12   [Description]    (hg19-Feb_2009)
EnsemblACACA - 17q12 [CytoView hg19]  ACACA - 17q12 [CytoView hg38]
Mapping of homologs : NCBIACACA [Mapview hg19]  ACACA [Mapview hg38]
OMIM200350   613933   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_000664 NM_198834 NM_198835 NM_198836 NM_198837 NM_198838 NM_198839
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_023295 NT_187614
Consensus coding sequences : CCDS (NCBI)ACACA
Cluster EST : UnigeneHs.160556 [ NCBI ]
CGAP (NCI)Hs.160556
Alternative Splicing GalleryENSG00000278540
Gene ExpressionACACA [ NCBI-GEO ]   ACACA [ EBI - ARRAY_EXPRESS ]   ACACA [ SEEK ]   ACACA [ MEM ]
Gene Expression Viewer (FireBrowse)ACACA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)31
GTEX Portal (Tissue expression)ACACA
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13085   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13085  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13085
Splice isoforms : SwissVarQ13085
PhosPhoSitePlusQ13085
Domaine pattern : Prosite (Expaxy)ATP_GRASP (PS50975)    BC (PS50979)    BIOTIN (PS00188)    BIOTINYL_LIPOYL (PS50968)    COA_CT_CTER (PS50989)    COA_CT_NTER (PS50980)    CPSASE_1 (PS00866)    CPSASE_2 (PS00867)   
Domains : Interpro (EBI)###############################################################################################################################################################################################################################################################                                                                   
Domain families : Pfam (Sanger)ACC_central (PF08326)    Biotin_carb_C (PF02785)    Biotin_carb_N (PF00289)    Biotin_lipoyl (PF00364)    Carboxyl_trans (PF01039)    CPSase_L_D2 (PF02786)   
Domain families : Pfam (NCBI)pfam08326    pfam02785    pfam00289    pfam00364    pfam01039    pfam02786   
Domain families : Smart (EMBL)Biotin_carb_C (SM00878)  
Conserved Domain (NCBI)ACACA
DMDM Disease mutations31
Blocks (Seattle)ACACA
PDB (SRS)2YL2    3COJ    4ASI   
PDB (PDBSum)2YL2    3COJ    4ASI   
PDB (IMB)2YL2    3COJ    4ASI   
PDB (RSDB)2YL2    3COJ    4ASI   
Structural Biology KnowledgeBase2YL2    3COJ    4ASI   
SCOP (Structural Classification of Proteins)2YL2    3COJ    4ASI   
CATH (Classification of proteins structures)2YL2    3COJ    4ASI   
SuperfamilyQ13085
Human Protein AtlasENSG00000278540
Peptide AtlasQ13085
HPRD01938
IPIIPI00011569   IPI00847501   IPI00396018   IPI00396015   IPI01010553   IPI01014477   IPI00396017   IPI00942045   IPI00472339   IPI00796495   IPI00887706   
Protein Interaction databases
DIP (DOE-UCLA)Q13085
IntAct (EBI)Q13085
FunCoupENSG00000278540
BioGRIDACACA
STRING (EMBL)ACACA
ZODIACACACA
Ontologies - Pathways
QuickGOQ13085
Ontology : AmiGOfibrillar center  tissue homeostasis  acetyl-CoA carboxylase activity  acetyl-CoA carboxylase activity  biotin carboxylase activity  protein binding  ATP binding  mitochondrion  cytosol  cytosol  cytosol  acetyl-CoA metabolic process  fatty acid biosynthetic process  biotin metabolic process  carnitine shuttle  actin cytoskeleton  positive regulation of cellular metabolic process  long-chain fatty-acyl-CoA biosynthetic process  multicellular organismal protein metabolic process  metal ion binding  protein homotetramerization  lipid homeostasis  extracellular exosome  cellular response to prostaglandin E stimulus  malonyl-CoA biosynthetic process  
Ontology : EGO-EBIfibrillar center  tissue homeostasis  acetyl-CoA carboxylase activity  acetyl-CoA carboxylase activity  biotin carboxylase activity  protein binding  ATP binding  mitochondrion  cytosol  cytosol  cytosol  acetyl-CoA metabolic process  fatty acid biosynthetic process  biotin metabolic process  carnitine shuttle  actin cytoskeleton  positive regulation of cellular metabolic process  long-chain fatty-acyl-CoA biosynthetic process  multicellular organismal protein metabolic process  metal ion binding  protein homotetramerization  lipid homeostasis  extracellular exosome  cellular response to prostaglandin E stimulus  malonyl-CoA biosynthetic process  
Pathways : BIOCARTAReversal of Insulin Resistance by Leptin [Genes]   
Pathways : KEGGFatty acid biosynthesis    Pyruvate metabolism    Propanoate metabolism    Insulin signaling pathway   
NDEx NetworkACACA
Atlas of Cancer Signalling NetworkACACA
Wikipedia pathwaysACACA
Orthology - Evolution
OrthoDB31
GeneTree (enSembl)ENSG00000278540
Phylogenetic Trees/Animal Genes : TreeFamACACA
HOVERGENQ13085
HOGENOMQ13085
Homologs : HomoloGeneACACA
Homology/Alignments : Family Browser (UCSC)ACACA
Gene fusions - Rearrangements
Fusion : MitelmanACACA/MGME1 [17q12/20p11.23]  
Fusion : MitelmanACACA/SGTB [17q12/5q12.3]  [t(5;17)(q12;q12)]  
Fusion : MitelmanCALR/ACACA [19p13.2/17q12]  [t(17;19)(q12;p13)]  
Fusion : MitelmanMYO1D/ACACA [17q11.2/17q12]  [t(17;17)(q11;q12)]  
Fusion : MitelmanNF1/ACACA [17q11.2/17q12]  [t(17;17)(q11;q12)]  
Fusion: TCGAACACA 17q12 ACCN1 BRCA
Fusion: TCGAACACA 17q12 C20orf72 THCA
Fusion: TCGAACACA 17q12 SRCIN1 17q12 LUAD
Fusion: TCGAACACA 17q12 TADA2A 17q12 BLCA
Fusion: TCGAMYO1D 17q11.2 ACACA 17q12 BRCA
Fusion: TCGANCOR1 17p12 ACACA 17q12 BRCA
Fusion: TCGANF1 17q11.2 ACACA 17q12 BRCA
Fusion Cancer (Beijing)LOC100233209 [ACACA]  -  17q12 [FUSC000255]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACACA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACACA
dbVarACACA
ClinVarACACA
1000_GenomesACACA 
Exome Variant ServerACACA
ExAC (Exome Aggregation Consortium)ACACA (select the gene name)
Genetic variants : HAPMAP31
Genomic Variants (DGV)ACACA [DGVbeta]
DECIPHERACACA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisACACA 
Mutations
ICGC Data PortalACACA 
TCGA Data PortalACACA 
Broad Tumor PortalACACA
OASIS PortalACACA [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDACACA
intOGen PortalACACA
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 ACACA
DgiDB (Drug Gene Interaction Database)ACACA
DoCM (Curated mutations)ACACA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACACA (select a term)
intoGenACACA
Cancer3DACACA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM200350    613933   
Orphanet
MedgenACACA
Genetic Testing Registry ACACA
NextProtQ13085 [Medical]
TSGene31
GENETestsACACA
Target ValidationACACA
Huge Navigator ACACA [HugePedia]
snp3D : Map Gene to Disease31
BioCentury BCIQACACA
ClinGenACACA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD31
Chemical/Pharm GKB GenePA24421
Clinical trialACACA
Miscellaneous
canSAR (ICR)ACACA (select the gene name)
Probes
Litterature
PubMed98 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACACA
EVEXACACA
GoPubMedACACA
iHOPACACA
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 : Wed Jun 7 12:22:25 CEST 2017

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