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ACACB (acetyl-CoA carboxylase beta)

Identity

Alias_namesacetyl-Coenzyme A carboxylase beta
Alias_symbol (synonym)HACC275
ACC2
ACCB
Other alias
HGNC (Hugo) ACACB
LocusID (NCBI) 32
Atlas_Id 49847
Location 12q24.11  [Link to chromosome band 12q24]
Location_base_pair Starts at 109577202 and ends at 109706030 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ACACB (12q24.11) / ACACB (12q24.11)ACACB (12q24.11) / CTDSP1 (2q35)ACACB (12q24.11) / FBXO21 (12q24.22)
ACACB (12q24.11) / UNG (12q24.11)IFT81 (12q24.11) / ACACB (12q24.11)PANK2 (20p13) / ACACB (12q24.11)
ACACB 12q24.11 / UNG 12q24.11IFT81 12q24.11 / ACACB 12q24.11

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)ACACB   85
Cards
Entrez_Gene (NCBI)ACACB  32  acetyl-CoA carboxylase beta
AliasesACC2; ACCB; HACC275
GeneCards (Weizmann)ACACB
Ensembl hg19 (Hinxton)ENSG00000076555 [Gene_View]  chr12:109577202-109706030 [Contig_View]  ACACB [Vega]
Ensembl hg38 (Hinxton)ENSG00000076555 [Gene_View]  chr12:109577202-109706030 [Contig_View]  ACACB [Vega]
ICGC DataPortalENSG00000076555
TCGA cBioPortalACACB
AceView (NCBI)ACACB
Genatlas (Paris)ACACB
WikiGenes32
SOURCE (Princeton)ACACB
Genetics Home Reference (NIH)ACACB
Genomic and cartography
GoldenPath hg19 (UCSC)ACACB  -     chr12:109577202-109706030 +  12q24.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ACACB  -     12q24.11   [Description]    (hg38-Dec_2013)
EnsemblACACB - 12q24.11 [CytoView hg19]  ACACB - 12q24.11 [CytoView hg38]
Mapping of homologs : NCBIACACB [Mapview hg19]  ACACB [Mapview hg38]
OMIM601557   
Gene and transcription
Genbank (Entrez)AB209110 AJ575431 AJ575592 AK302469 AK302502
RefSeq transcript (Entrez)NM_001093
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_029419 NW_004929385
Consensus coding sequences : CCDS (NCBI)ACACB
Cluster EST : UnigeneHs.676621 [ NCBI ]
CGAP (NCI)Hs.676621
Alternative Splicing GalleryENSG00000076555
Gene ExpressionACACB [ NCBI-GEO ]   ACACB [ EBI - ARRAY_EXPRESS ]   ACACB [ SEEK ]   ACACB [ MEM ]
Gene Expression Viewer (FireBrowse)ACACB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)32
GTEX Portal (Tissue expression)ACACB
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00763   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00763  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00763
Splice isoforms : SwissVarO00763
Catalytic activity : Enzyme6.3.4.14 [ Enzyme-Expasy ]   6.3.4.146.3.4.14 [ IntEnz-EBI ]   6.3.4.14 [ BRENDA ]   6.3.4.14 [ KEGG ]   
PhosPhoSitePlusO00763
Domaine pattern : Prosite (Expaxy)ATP_GRASP (PS50975)    BC (PS50979)    BIOTINYL_LIPOYL (PS50968)    COA_CT_CTER (PS50989)    COA_CT_NTER (PS50980)    CPSASE_1 (PS00866)    CPSASE_2 (PS00867)   
Domains : Interpro (EBI)AcCoA_COase_cen    ATP-grasp    ATP_grasp_subdomain_1    ATP_grasp_subdomain_2    BC-like_N    Biotin_carboxylation_dom    Biotin_COase_C    Biotin_lipoyl    Carboxyl_trans    CbamoylP_synth_lsu-like_ATP-bd    ClpP/crotonase-like_dom    COA_CT_C    COA_CT_N    PreATP-grasp_dom    Rudment_hybrid_motif    Single_hybrid_motif   
Domain families : Pfam (Sanger)ACC_central (PF08326)    Biotin_carb_C (PF02785)    Biotin_lipoyl (PF00364)    Carboxyl_trans (PF01039)    CPSase_L_chain (PF00289)    CPSase_L_D2 (PF02786)   
Domain families : Pfam (NCBI)pfam08326    pfam02785    pfam00364    pfam01039    pfam00289    pfam02786   
Domain families : Smart (EMBL)Biotin_carb_C (SM00878)  
Conserved Domain (NCBI)ACACB
DMDM Disease mutations32
Blocks (Seattle)ACACB
PDB (SRS)2DN8    2HJW    2KCC    3FF6    3GID    3GLK    3JRW    3JRX    3TDC    4HQ6   
PDB (PDBSum)2DN8    2HJW    2KCC    3FF6    3GID    3GLK    3JRW    3JRX    3TDC    4HQ6   
PDB (IMB)2DN8    2HJW    2KCC    3FF6    3GID    3GLK    3JRW    3JRX    3TDC    4HQ6   
PDB (RSDB)2DN8    2HJW    2KCC    3FF6    3GID    3GLK    3JRW    3JRX    3TDC    4HQ6   
Structural Biology KnowledgeBase2DN8    2HJW    2KCC    3FF6    3GID    3GLK    3JRW    3JRX    3TDC    4HQ6   
SCOP (Structural Classification of Proteins)2DN8    2HJW    2KCC    3FF6    3GID    3GLK    3JRW    3JRX    3TDC    4HQ6   
CATH (Classification of proteins structures)2DN8    2HJW    2KCC    3FF6    3GID    3GLK    3JRW    3JRX    3TDC    4HQ6   
SuperfamilyO00763
Human Protein AtlasENSG00000076555
Peptide AtlasO00763
HPRD07044
IPIIPI00013003   IPI00157056   IPI00848209   IPI01018762   IPI01009637   IPI01015400   IPI01015814   
Protein Interaction databases
DIP (DOE-UCLA)O00763
IntAct (EBI)O00763
FunCoupENSG00000076555
BioGRIDACACB
STRING (EMBL)ACACB
ZODIACACACB
Ontologies - Pathways
QuickGOO00763
Ontology : AmiGOacetyl-CoA carboxylase activity  biotin carboxylase activity  protein binding  ATP binding  nucleus  mitochondrion  mitochondrial outer membrane  cytosol  acetyl-CoA metabolic process  fatty acid biosynthetic process  biotin metabolic process  carnitine shuttle  negative regulation of gene expression  positive regulation of lipid storage  regulation of glucose metabolic process  endomembrane system  positive regulation of cellular metabolic process  response to nutrient levels  negative regulation of fatty acid beta-oxidation  negative regulation of catalytic activity  metal ion binding  protein homotetramerization  positive regulation of heart growth  energy homeostasis  malonyl-CoA biosynthetic process  
Ontology : EGO-EBIacetyl-CoA carboxylase activity  biotin carboxylase activity  protein binding  ATP binding  nucleus  mitochondrion  mitochondrial outer membrane  cytosol  acetyl-CoA metabolic process  fatty acid biosynthetic process  biotin metabolic process  carnitine shuttle  negative regulation of gene expression  positive regulation of lipid storage  regulation of glucose metabolic process  endomembrane system  positive regulation of cellular metabolic process  response to nutrient levels  negative regulation of fatty acid beta-oxidation  negative regulation of catalytic activity  metal ion binding  protein homotetramerization  positive regulation of heart growth  energy homeostasis  malonyl-CoA biosynthetic process  
Pathways : KEGGFatty acid biosynthesis    Pyruvate metabolism    Propanoate metabolism    Insulin signaling pathway    Adipocytokine signaling pathway   
NDEx NetworkACACB
Atlas of Cancer Signalling NetworkACACB
Wikipedia pathwaysACACB
Orthology - Evolution
OrthoDB32
GeneTree (enSembl)ENSG00000076555
Phylogenetic Trees/Animal Genes : TreeFamACACB
HOVERGENO00763
HOGENOMO00763
Homologs : HomoloGeneACACB
Homology/Alignments : Family Browser (UCSC)ACACB
Gene fusions - Rearrangements
Fusion : MitelmanACACB/UNG [12q24.11/12q24.11]  
Fusion : MitelmanIFT81/ACACB [12q24.11/12q24.11]  [t(12;12)(q24;q24)]  
Fusion: TCGAACACB 12q24.11 UNG 12q24.11 BRCA SKCM
Fusion: TCGAIFT81 12q24.11 ACACB 12q24.11 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACACB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACACB
dbVarACACB
ClinVarACACB
1000_GenomesACACB 
Exome Variant ServerACACB
ExAC (Exome Aggregation Consortium)ACACB (select the gene name)
Genetic variants : HAPMAP32
Genomic Variants (DGV)ACACB [DGVbeta]
DECIPHER (Syndromes)12:109577202-109706030  ENSG00000076555
CONAN: Copy Number AnalysisACACB 
Mutations
ICGC Data PortalACACB 
TCGA Data PortalACACB 
Broad Tumor PortalACACB
OASIS PortalACACB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACACB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDACACB
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 ACACB
DgiDB (Drug Gene Interaction Database)ACACB
DoCM (Curated mutations)ACACB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACACB (select a term)
intoGenACACB
Cancer3DACACB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601557   
Orphanet
MedgenACACB
Genetic Testing Registry ACACB
NextProtO00763 [Medical]
TSGene32
GENETestsACACB
Huge Navigator ACACB [HugePedia]
snp3D : Map Gene to Disease32
BioCentury BCIQACACB
ClinGenACACB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD32
Chemical/Pharm GKB GenePA24422
Clinical trialACACB
Miscellaneous
canSAR (ICR)ACACB (select the gene name)
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACACB
EVEXACACB
GoPubMedACACB
iHOPACACB
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 Mar 14 12:54:33 CET 2017

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