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ACACB Gene

protein-coding   GIFtS: 66
GCID: GC12P109577

Acetyl-CoA Carboxylase Beta

(Previous name: acetyl-Coenzyme A carboxylase beta)
  See ACACB-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Acetyl-CoA Carboxylase Beta1 2     Acetyl-CoA Carboxylase 21 2
ACC22 3 5     ACC-beta2 3
ACCB2 3 5     HACC2752
Acetyl-Coenzyme A Carboxylase Beta1 2     EC 6.4.1.23

External Ids:    HGNC: 851   Entrez Gene: 322   Ensembl: ENSG000000765557   OMIM: 6015575   UniProtKB: O007633   

Export aliases for ACACB gene to outside databases

Previous GC identifers: GC12P108635 GC12P109416 GC12P108039 GC12P108017 GC12P108062 GC12P106595


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ACACB Gene:
Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which
catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis.
ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit
carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria.
ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. There is
evidence for the presence of two ACC-beta isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for ACACB Gene:
ACACB (acetyl-CoA carboxylase beta) is a protein-coding gene. Diseases associated with ACACB include biotin deficiency. GO annotations related to this gene include biotin carboxylase activity and acetyl-CoA carboxylase activity. An important paralog of this gene is ACACA.

UniProtKB/Swiss-Prot: ACACB_HUMAN, O00763
Function: ACC-beta may be involved in the provision of malonyl-CoA or in the regulation of fatty acid oxidation,
rather than fatty acid biosynthesis. Carries out three functions: biotin carboxyl carrier protein, biotin
carboxylase and carboxyltransferase

Gene Wiki entry for ACACB Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACACB gene promoter:
         c-Fos   STAT1   RFX1   MAZR   AP-1   STAT1beta   C/EBPalpha   STAT1alpha   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ACACB promoter sequence
   Search Chromatin IP Primers for ACACB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACACB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.11   Ensembl cytogenetic band:  12q24.11   HGNC cytogenetic band: 12q24.1

ACACB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACACB gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P109577:  view genomic region     (about GC identifiers)

Start:
109,554,400 bp from pter      End:
109,706,031 bp from pter
Size:
151,632 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ACACB_HUMAN, O00763 (See protein sequence)
Recommended Name: Acetyl-CoA carboxylase 2  
Size: 2458 amino acids; 276541 Da
Cofactor: Biotin (By similarity)
Cofactor: Binds 2 manganese ions per subunit (By similarity)
Subunit: Monomer, homodimer, and homotetramer. Can form filamentous polymers. Interacts with MID1IP1; interaction
with MID1IP1 promotes oligomerization and increases its activity
Sequence caution: Sequence=AAB58382.1; Type=Miscellaneous discrepancy; Note=Many Frameshifts and conflicts;
Sequence=CAE01470.2; Type=Erroneous translation; Note=Wrong choice of CDS;
Selected PDB 3D structures from and Proteopedia for ACACB (see all 10):
2DN8 (3D)        2HJW (3D)        2KCC (3D)        3FF6 (3D)        3GID (3D)        3GLK (3D)    
Secondary accessions: A6NK36 Q16852 Q1HEC1 Q6KE87 Q6KE89 Q6TY48
Alternative splicing: 2 isoforms:  O00763-1   O00763-2   

Explore the universe of human proteins at neXtProt for ACACB: NX_O00763

Explore proteomics data for ACACB at MOPED

Post-translational modifications: 

  • Phosphorylated by AMPK, leading to inactivate the enzyme1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ACACB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001084.3  
    ENSEMBL proteins: 
     ENSP00000341044   ENSP00000443494   ENSP00000474680   ENSP00000443281   ENSP00000367079  
     ENSP00000367085   ENSP00000444075  
    Reactome Protein details: O00763

    ACACB Human Recombinant Protein Products:

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    Novus Biologicals ACACB Protein
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for ACACB 

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    ACACB Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for ACACB 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: Acetyl-CoA carboxylase 2
    Carboxylases

    Selected InterPro protein domains (see all 15):
     IPR011762 COA_CT_N
     IPR000022 Carboxyl_trans
     IPR000089 Biotin_lipoyl
     IPR005481 CarbamoylP_synth_lsu_N
     IPR016185 PreATP-grasp_dom

    Graphical View of Domain Structure for InterPro Entry O00763

    ProtoNet protein and cluster: O00763

    2 Blocks protein domains:
    IPB001882 Biotin-requiring enzyme
    IPB013537 Acetyl-CoA carboxylase


    UniProtKB/Swiss-Prot: ACACB_HUMAN, O00763
    Similarity: Contains 1 ATP-grasp domain
    Similarity: Contains 1 biotin carboxylation domain
    Similarity: Contains 1 biotinyl-binding domain
    Similarity: Contains 1 carboxyltransferase domain


    Find genes that share domains with ACACB           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACACB_HUMAN, O00763
    Function: ACC-beta may be involved in the provision of malonyl-CoA or in the regulation of fatty acid oxidation,
    rather than fatty acid biosynthesis. Carries out three functions: biotin carboxyl carrier protein, biotin
    carboxylase and carboxyltransferase
    Catalytic activity: ATP + acetyl-CoA + HCO(3)(-) = ADP + phosphate + malonyl-CoA
    Catalytic activity: ATP + biotin-[carboxyl-carrier-protein] + CO(2) = ADP + phosphate +
    carboxy-biotin-[carboxyl-carrier-protein]
    Enzyme regulation: Activity is increased by oligomerization. Activated by citrate. Citrate and MID1IP1 promote
    oligomerization. Inhibited by malonyl-CoA
    Biophysicochemical properties: Kinetic parameters: KM=120 uM for ATP; KM=58 uM for Acetyl-CoA; KM=3.0 mM for
    NaHCO(3);

         Genatlas biochemistry entry for ACACB:
    acetyl-CoA carboxylase beta,280kDa,expressed in heart and skeletal muscle,liver,colocalizing with CPT1 at the
    outer mitochondrial membrane,providing the malonyl-CoA allosterically regulating CPT1 activity,involved in the
    regulation of fatty acid beta-oxidation and energy production

         Enzyme Number (IUBMB): EC 6.4.1.21

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0003989acetyl-CoA carboxylase activity IDA--
    GO:0004075biotin carboxylase activity IEA--
    GO:0005515protein binding IPI16794074
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with ACACB           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Acacb):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  growth/size/body 
     homeostasis/metabolism  integument  muscle  normal 

    Find genes that share phenotypes with ACACB           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ACACB: Acacbtm1Sjw Acacbtm1.2Lowl Acacbtm1Dejs

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACACB
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ACACB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACACB
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACACB

    miRNA
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    miRTarBase miRNAs that target ACACB:
    hsa-mir-148b-3p (MIRT019364)

    Block miRNA regulation of human, mouse, rat ACACB using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate ACACB:
    hsa-miR-205 hsa-miR-125a-5p hsa-miR-670 hsa-miR-125b hsa-miR-3613-3p hsa-miR-1910 hsa-miR-4319
    SwitchGear 3'UTR luciferase reporter plasmidACACB 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ACACB

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    Clone
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    OriGene ORF clones in mouse, rat for ACACB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ACACB (NM_001093)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACACB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACACB

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACACB

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12320) for ACACB 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACACB_HUMAN, O00763: Endomembrane system. Note=May associate with membranes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    plasma membrane3
    chloroplast2
    mitochondrion2
    peroxisome2
    endoplasmic reticulum1
    extracellular1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion ----
    GO:0005741mitochondrial outer membrane TAS--
    GO:0005829cytosol TAS--
    GO:0012505endomembrane system IEA--

    Find genes that share ontologies with ACACB           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ACACB About   (see all 18)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    2Fatty acid metabolism
    Fatty acid metabolism0.42
    Fatty acid biosynthesis0.00
    Saturated fatty acid biosynthesis0.00
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    4Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.75
    Activation of Gene Expression by SREBP (SREBF)0.75
    5Integration of energy metabolism
    Integration of energy metabolism0.75
    ChREBP activates metabolic gene expression0.00


    Find genes that share SuperPaths with ACACB           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ACACB
        AMPK Enzyme Complex Pathway

    1 Cell Signaling Technology (CST) Pathway for ACACB
        Glucose / Energy Metabolism

    2 GeneGo (Thomson Reuters) Pathways for ACACB
        Development Leptin signaling via PI3K-dependent pathway
    Saturated fatty acid biosynthesis

    4 BioSystems Pathways for ACACB
        AMPK signaling
    BDNF signaling pathway
    biotin-carboxyl carrier protein assembly
    Fatty Acid Biosynthesis

    5 Reactome Pathways for ACACB
        Defective HLCS causes multiple carboxylase deficiency
    ChREBP activates metabolic gene expression
    Import of palmitoyl-CoA into the mitochondrial matrix
    Biotin transport and metabolism
    Activation of gene expression by SREBF (SREBP)

    1 PharmGKB Pathway for ACACB
        Metformin Pathway, Pharmacodynamic

    Selected Kegg Pathways  (Kegg details for ACACB) (see all 7):
        Fatty acid biosynthesis
    Pyruvate metabolism
    Propanoate metabolism
    Metabolic pathways
    Fatty acid metabolism

    UniProtKB/Swiss-Prot: ACACB_HUMAN, O00763
    Pathway: Lipid metabolism; malonyl-CoA biosynthesis; malonyl-CoA from acetyl-CoA: step 1/1

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACACB: 

              Insulin Resistance in human mouse rat
              Adipogenesis in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ACACB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ACACB (O007631, 2, 3 ENSP000003670794) via UniProtKB, MINT, STRING, and/or I2D (see all 281)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HLCSP507471, 2, 3, ENSP000003383874EBI-2211739,EBI-3915568 MINT-7543053 MINT-7543129 MINT-7543070 MINT-7543096 I2D: score=2 STRING: ENSP00000338387
    ENSG00000096171P266403I2D: score=1 
    ENSG00000224264P266403I2D: score=1 
    ENSG00000226589P266403I2D: score=1 
    ENSG00000231116P266403I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006084acetyl-CoA metabolic process IDA--
    GO:0006112energy reserve metabolic process TAS--
    GO:0006633fatty acid biosynthetic process IEA--
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--

    Find genes that share ontologies with ACACB           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACACB

    7 HMDB Compounds for ACACB    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Biotin(+)-Biotin (see all 42)58-85-5--
    Malonyl-CoAMalonyl Coenzyme A (see all 11)524-14-1--
    Manganesemanganese 7439-96-5--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--

    5 DrugBank Compounds for ACACB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenine1H-Purin-6-amine (see all 5)73-24-5target--17139284 17016423 12829626 8318018 2880560 10592235
    Soraphen A-- 122547-72-2target--17139284 17016423 10592235
    (2S)-2-(4-{[3-CHLORO-5-(TRIFLUOROMETHYL)PYRIDIN-2-YL]OXY}PHENOXY)PROPANOIC ACID-- --target--10592235
    2-[4-(2,4-Dichlorophenoxy)Phenoxy]Propanoic Acid-- --target--10592235
    Biotin(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid (see all 7)58-85-5target--17477831

    1 IUPHAR Ligand for ACACB (Acetyl-CoA carboxylase 2)    About this table
    LigandTypeActionAffinityPubmed IDs
    TOFA
    InhibitorInhibition10875926

    9 Novoseek inferred chemical compound relationships for ACACB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acetyl-coa 90.4 48 16721829 (2), 17223360 (2), 17267221 (1), 19832698 (1) (see all 29)
    aicar 69.8 1 15356065 (1)
    fatty acid 69.3 40 15769985 (3), 16142397 (2), 15356065 (2), 8876158 (2) (see all 16)
    carnitine 52.2 2 8876158 (1)
    sterol 49.1 1 17671740 (1)
    lipid 31 1 15356065 (1)
    glucose 26.9 7 16376850 (4), 16421342 (1), 18063403 (1)
    atp 25.3 1 11832374 (1)
    glycogen 20 2 11832374 (2)



    Find genes that share compounds with ACACB           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ACACB gene: 
    NM_001093.3  

    Unigene Cluster for ACACB:

    Acetyl-CoA carboxylase beta
    Hs.234898  [show with all ESTs]
    Unigene Representative Sequence: NM_001093
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000338432(uc001tob.3 uc001toc.3 uc001tod.3 uc010sxm.2)
    ENST00000539864 ENST00000546328 ENST00000544726 ENST00000543080 ENST00000544651
    ENST00000538526 ENST00000542524 ENST00000534852 ENST00000537347 ENST00000536440
    ENST00000396233 ENST00000537279 ENST00000377848 ENST00000377854 ENST00000543201(uc010sxl.1)

    miRNA
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    7 qRT-PCR Assays for microRNAs that regulate ACACB:
    hsa-miR-205 hsa-miR-125a-5p hsa-miR-670 hsa-miR-125b hsa-miR-3613-3p hsa-miR-1910 hsa-miR-4319
    SwitchGear 3'UTR luciferase reporter plasmidACACB 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ACACB
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ACACB (NM_001093)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACACB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACACB
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ACACB
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACACB
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    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12320) for ACACB 

    Additional mRNA sequence: 

    AB209110.1 AJ575431.2 AJ575592.3 AK302469.1 AK302502.1 AK307466.1 AY382667.1 BC009753.2 
    BC028417.1 BC133715.1 DQ493870.1 U34591.1 

    10 DOTS entries:

    DT.97772780  DT.92430012  DT.97847648  DT.311823  DT.311822  DT.97847647  DT.100664378  DT.91668133 
    DT.99947442  DT.75190335 

    Selected AceView cDNA sequences (see all 182):

    AA912351 BQ708221 BM710345 AI633820 AI263610 CF455324 AJ575431 BP334758 
    AI084970 BG698086 AI918780 AJ575592 AY382667 F06449 AI969384 AI004903 
    F04454 BQ694002 CA407836 CA397438 CA406123 BC009753 CB163592 CR626281 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACACB (see all 11)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^
    SP1:        -                       -                                                           -                                                               
    SP2:                                                                                            -                       -     -     -     -                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37a · 37b ^ 38 ^ 39 ^ 40 ^ 41a · 41b ^
    SP1:                                                                    -     -                                   -                                             
    SP2:                                                                    -     -                                   -                                             
    SP3:                                                                                                              -                                             
    SP4:                                                                                -                             -                                             
    SP5:                                                                                                                                                            

    ExUns: 42 ^ 43 ^ 44a · 44b ^ 45a · 45b ^ 46a · 46b ^ 47a · 47b ^ 48 ^ 49 ^ 50a · 50b ^ 51 ^ 52 ^ 53 ^ 54 ^ 55 ^ 56 ^ 57a · 57b
    SP1:              -                 -                                         -           -                                             
    SP2:              -                 -                                         -           -                                             
    SP3:              -                 -                                         -                                                         
    SP4:                                                                                                                                    
    SP5:                                                                                      -                                             


    ECgene alternative splicing isoforms for ACACB

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ACACB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGTTGCCCA
    ACACB Expression
    About this image


    ACACB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 6 entries
             White adipocyte-like cells
             Human Mesenchymal Stem Cell-adipose (HMSC-ad)   
             adipose tissue   
     
     Mesenchymal Stem Cells (Uncategorized)
             Human Mesenchymal Stem Cell-adipose (HMSC-ad)   
    ACACB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACACB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.234898

    UniProtKB/Swiss-Prot: ACACB_HUMAN, O00763
    Tissue specificity: Predominantly expressed in the heart, skeletal muscles and liver

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACACB: 
              Insulin Resistance in human mouse rat
              Adipogenesis in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ACACB gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acacb1 , 5 acetyl-Coenzyme A carboxylase beta1, 5 85.01(n)1
    88.81(a)1
      5 (55.97 cM)5
    1007051  NM_133904.21  NP_598665.21 
     1141465355 
    chicken
    (Gallus gallus)
    Aves ACACB1 acetyl-CoA carboxylase beta 75.93(n)
    79.94(a)
      430557  XM_428114.4  XP_428114.4 
    lizard
    (Anolis carolinensis)
    Reptilia ACACB6
    acetyl-CoA carboxylase beta
    74(a)
    1 ↔ 1
    1(118289679-118331307)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX699087.12   -- 72.89(n)    BX699087.1 
    zebrafish
    (Danio rerio)
    Actinopterygii acacb1 acetyl-CoA carboxylase beta 70.85(n)
    76.2(a)
      556236  XM_005165194.1  XP_005165251.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG111983 acetyl-CoA carboxylase 59(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea W09B6.13 acetyl-CoA carboxylase 44(a)
    (best of 2)
      II(1143941-1152380)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ACC1(YNR016C)4 Acetyl-CoA carboxylase, biotin containing enzyme that more   --   14(661374-654673) 855750  NP_014413.1 
    barley
    (Hordeum vulgare)
    Liliopsida AV916098.12   -- 71.91(n)    AV916098.1 


    ENSEMBL Gene Tree for ACACB (if available)
    TreeFam Gene Tree for ACACB (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACACB gene
    ACACA2  
    1 SIMAP similar gene for ACACB using alignment to 8 protein entries:     ACACB_HUMAN (see all proteins):
    ACACA

    Find genes that share paralogs with ACACB           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACACB (see all 3210)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0626674
    A pancreatic ductal adenocarcinoma sample4--see VAR_0626672 R L mis40--------
    rs16548851,2
    C,F,A,H--106593771(+) AGGGCG/ACAGTG 1 -- us2k112Minor allele frequency- A:0.19NA WA CSA EA 378
    rs676611191,2
    C--106660231(+) TATCT-/TTTTTT 1 -- int10--------
    rs1818175091,2
    --109575207(+) CGCCTC/GTAATC 1 -- us2k10--------
    rs1858242631,2
    --109575387(+) TTGAAA/CCCAGG 1 -- us2k10--------
    rs1388397841,2
    --109575421(+) GATTAC/TGCCAC 1 -- us2k10--------
    rs1901516441,2
    --109575422(+) ATTACA/GCCACT 1 -- us2k10--------
    rs731974531,2
    C--109575477(+) AAAAAA/GGGATT 1 -- us2k10--------
    rs747830141,2
    C,F--109575596(+) CCATTT/AAAAAA 1 -- us2k11Minor allele frequency- A:0.05NA 120
    rs731974541,2
    C--109575599(+) TTTAAA/CAATTT 1 -- us2k13Minor allele frequency- C:0.05WA NA EA 242

    HapMap Linkage Disequilibrium report for ACACB (109554400 - 109706031 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ACACB (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2671931CNV Deletion23128226
    esv1456600CNV Deletion17803354
    esv2673080CNV Deletion23128226
    esv2746347CNV Deletion23290073
    esv2158529CNV Deletion18987734
    esv2746348CNV Deletion23290073
    nsv507674CNV Insertion20534489
    nsv899512CNV Loss21882294
    nsv526593CNV Loss19592680
    nsv528323CNV Gain19592680

    Human Gene Mutation Database (HGMD): ACACB
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACACB
    DNA2.0 Custom Variant and Variant Library Synthesis for ACACB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 601557    OMIM disorders: --

    1 disease for ACACB:    
    About MalaCards
    biotin deficiency


    Find genes that share disorders with ACACB           About GenesLikeMe

    4 Novoseek inferred disease relationships for ACACB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fatty liver 41.7 1 20139635 (1)
    insulin resistance 40.1 1 15955844 (1)
    insulin sensitivity 38.7 1 14627750 (1)
    obesity 34.7 4 20439761 (1), 20139635 (1), 16721829 (1)

    Genetic Association Database (GAD): ACACB
    Human Genome Epidemiology (HuGE) Navigator: ACACB (15 documents)

    Export disorders for ACACB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ACACB gene, integrated from 10 sources (see all 113):
    (articles sorted by number of sources associating them with ACACB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a second human acetyl-CoA carboxylase gene. (PubMed id 8670171)1, 2, 3 Widmer J....Witters L.A. (Biochem. J. 1996)
    2. Human acetyl-CoA carboxylase 2. Molecular cloning, characterization, chromosomal mapping, and evidence for two isoforms. (PubMed id 9099716)1, 2, 9 Abu-Elheiga L.... Wakil S.J. (J. Biol. Chem. 1997)
    3. A single nucleotide polymorphism within the acetyl-coenzyme A carboxylase beta gene is associated with proteinuria in patients with type 2 diabetes. (PubMed id 20168990)1, 4, 9 Maeda S....Nakamura Y. (PLoS Genet. 2010)
    4. Expression, purification, and characterization of human and rat acetyl coenzyme A carboxylase (ACC) isozymes. (PubMed id 16854592)1, 2, 9 Cheng D.... Tamura J.K. (Protein Expr. Purif. 2007)
    5. Acetyl-coenzyme A carboxylase alpha gene variations may be associated with the direct effects of some antipsychotics on triglyceride levels. (PubMed id 19846279)1, 4, 9 Diaz F.J....de Leon J. (Schizophr. Res. 2009)
    6. Exploring genetic variations that may be associated with the direct effects of some antipsychotics on lipid levels. (PubMed id 18031993)1, 4, 9 de Leon J....Diaz F.J. (Schizophr. Res. 2008)
    7. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    8. ACC2 gene polymorphisms, metabolic syndrome, and gene-nutrient interactions with dietary fat. (PubMed id 20855566)1, 4 Phillips C.M....Roche H.M. (J. Lipid Res. 2010)
    9. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)1, 4 RuaA+o G....Wu A.H. (Pharmacogenomics 2010)
    10. Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064)1, 4 Pinheiro A.P....Woodside D.B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 32 HGNC: 85 AceView: ACACB Ensembl:ENSG00000076555 euGenes: HUgn32
    ECgene: ACACB Kegg: 32 H-InvDB: ACACB

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ACACB Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ACACB gene:
    Search GeneIP for patents involving ACACB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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