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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACACB Gene

protein-coding   GIFtS: 66
GCID: GC12P109577

Acetyl-CoA Carboxylase Beta

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

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 fatty liver disease, and proteinuria, and among its related super-pathways are biotin-carboxyl carrier protein assembly and Metabolic pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_009775.17  NC_018923.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ACACB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Endomembrane system. Note=May associate with membranes
Sequence caution: Sequence=AAB58382.1; Type=Miscellaneous discrepancy; Note=Many Frameshifts and conflicts;
Sequence=CAE01470.2; Type=Erroneous translation; Note=Wrong choice of CDS;
6/9 PDB 3D structures from and Proteopedia for ACACB (see all 9):
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:

  • UniProtKB: Phosphorylated by AMPK, leading to inactivate the enzyme
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00763

  • ACACB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACACB Protein Expression
    REFSEQ proteins: NP_001084.3  
    ENSEMBL proteins: 
     ENSP00000341044   ENSP00000443494   ENSP00000474680   ENSP00000443281   ENSP00000367079  
     ENSP00000367085   ENSP00000444075  
    Reactome Protein details: O00763
    Human Recombinant Protein Products for ACACB: 
    EMD Millipore Purified and/or Recombinant ACACB Protein
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    OriGene Custom Protein Services for ACACB
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    Novus Biologicals ACACB Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--
    GO:0012505endomembrane system IEA--
    GO:0016020membrane IEA--

    ACACB for ontologies           About GeneDecksing



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

    5/15 InterPro protein domains (see all 15):
     IPR011762 COA_CT_N
     IPR011053 Single_hybrid_motif
     IPR000022 Carboxyl_trans
     IPR005479 CbamoylP_synth_lsu-like_ATP-bd
     IPR000089 Biotin_lipoyl

    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


    ACACB for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    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--
         
    ACACB for ontologies           About GeneDecksing


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

    ACACB for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ACACB 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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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    7 QIAGEN miScript miRNA 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
    Products:
        
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    OriGene RNAi products in human, mouse, rat for ACACB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACACB

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: ACACB (NM_001093)
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACACB


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ACACB About   (see all 18)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Saturated fatty acid biosynthesis
    Saturated fatty acid biosynthesis0.50
    ChREBP activates metabolic gene expression0.38
    biotin-carboxyl carrier protein assembly0.50
    Biotin transport and metabolism0.30
    Fatty acid biosynthesis0.50
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.67
    Activation of Gene Expression by SREBP (SREBF)0.67
    4Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors1.00
    Metabolism of vitamins and cofactors1.00
    5Regulation of Insulin Secretion
    Integration of energy metabolism0.74

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for ACACB
        Saturated fatty acid biosynthesis
    Development Leptin signaling via PI3K-dependent pathway

    1 Downloadable PowerPoint Slide of QIAGEN 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

    5/11        Reactome Pathways for ACACB (see all 11)
        Metabolism
    Metabolism of vitamins and cofactors
    Integration of energy metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)

    1 PharmGKB Pathway for ACACB
        Metformin Pathway, Pharmacodynamic

    5/6         Kegg Pathways  (Kegg details for ACACB) (see all 6):
        Fatty acid biosynthesis
    Pyruvate metabolism
    Propanoate metabolism
    Metabolic pathways
    Insulin signaling pathway

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


    ACACB for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACACB

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

    5/223 Interacting proteins for ACACB (O007632, 3 ENSP000003670794) via UniProtKB, MINT, STRING, and/or I2D (see all 223)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HLCSP507472, 3, ENSP000003383874MINT-7543053 MINT-7543129 MINT-7543070 MINT-7543096 I2D: score=2 STRING: ENSP00000338387
    ENSG00000096171P266403I2D: score=1 
    ENSG00000226589P266403I2D: score=1 
    VARSP266403I2D: score=1 
    ENSG00000258947Q135093I2D: score=1 
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    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--

    ACACB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ACACB for compounds           About GeneDecksing

    EMD Millipore small molecules for ACACB:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about ACACB

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)

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    SwitchGear 3'UTR luciferase reporter plasmidACACB 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector: ACACB (NM_001093)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACACB
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    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 

    24/182 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

    5/11 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See ACACB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACACB

    SOURCE GeneReport for Unigene cluster: Hs.234898

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including ACACB: 
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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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ACACB gene from 9/16 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 76.5(n)
    80.67(a)
      430557  XM_428114.3  XP_428114.3 
    lizard
    (Anolis carolinensis)
    Reptilia ACACB6
    Uncharacterized protein
    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 72.31(n)
    78.53(a)
      556236  XM_678989.5  XP_684081.4 
    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)
    About This Section
    Paralogs for ACACB gene
    ACACA2  
    1 SIMAP similar gene for ACACB using alignment to 9 protein entries:     ACACB_HUMAN (see all proteins):
    ACACA

    ACACB for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3210 SNPs in ACACB are shown (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) 10/12 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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601557    OMIM disorders: --

    12 diseases for ACACB:    About MalaCards
    fatty liver disease    proteinuria    anorexia nervosa    insulin resistance
    liver disease    obesity    alcoholism    pancreatic cancer
    hypoxia    pancreatitis    prostate cancer    prostatitis


    ACACB for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for ACACB gene, integrated from 9 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. (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. (1997)
    3. A single nucleotide polymorphism within the acetyl-co enzyme A carboxylase beta gene is associated with proteinuria in patients with type 2 diabetes. (PubMed id 20168990)1, 4, 9 Maeda S....Nakamura Y. (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. (2007)
    5. Acetyl-coenzyme A carboxylase alpha gene variations m ay be associated with the direct effects of some antipsychotics on triglyceride levels. (PubMed id 19846279)1, 4, 9 Diaz F.J....de Leon J. (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. (2008)
    7. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (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. (2010)
    9. Physiogenomic analysis of statin-treated patients: do main-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)1, 4 RuaA+o G....Wu A.H. (2010)
    10. Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064)1, 4 Pinheiro A.P....Woodside D.B. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 32 HGNC: 85 AceView: ACACB Ensembl:ENSG00000076555 euGenes: HUgn32
    ECgene: ACACB Kegg: 32 H-InvDB: ACACB

    (According to HUGE)
    About This Section
      --

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

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