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

ACACA Gene

protein-coding   GIFtS: 70
GCID: GC17M035441

Acetyl-CoA Carboxylase Alpha

(Previous name: acetyl-Coenzyme A carboxylase alpha)
(Previous symbols: ACAC, ACC)
Microbiology & Infectious Diseases Congress
  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 Alpha1 2     Acetyl-CoA Carboxylase 11 2
ACAC1 2 3 5     ACC-alpha2 3
ACC12 3 5     ACCA2 3
ACC1 2     ACACAD2
Acetyl-Coenzyme A Carboxylase Alpha1 2     EC 6.4.1.23

External Ids:    HGNC: 841   Entrez Gene: 312   Ensembl: ENSG000001321427   OMIM: 2003505   UniProtKB: Q130853   

Export aliases for ACACA gene to outside databases

Previous GC identifers: GC17M034828 GC17M037396 GC17M035173 GC17M035639 GC17M035637 GC17M032516 GC17M031378


(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 ACACA 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. There
are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic
tissues. The enzyme is under long term control at the transcriptional and translational levels and under short
term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric
transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the
5' sequence and encoding distinct isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for ACACA Gene: 
ACACA (acetyl-CoA carboxylase alpha) is a protein-coding gene. Diseases associated with ACACA include multiple carboxylase deficiency, and hypobetalipoproteinemia, and among its related super-pathways are biotin-carboxyl carrier protein assembly and Activation of Gene Expression by SREBP (SREBF). GO annotations related to this gene include biotin carboxylase activity and acetyl-CoA carboxylase activity. An important paralog of this gene is ACACB.

UniProtKB/Swiss-Prot: ACACA_HUMAN, Q13085
Function: Catalyzes the rate-limiting reaction in the biogenesis of long-chain fatty acids. Carries out three
functions: biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase

Gene Wiki entry for ACACA 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_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACACA gene promoter:
         CREB   AP-1   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): ACACA promoter sequence
   Search SABiosciences Chromatin IP Primers for ACACA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACACA


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

Entrez Gene cytogenetic band: 17q21   Ensembl cytogenetic band:  17q12   HGNC cytogenetic band: 17q21

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M035441:  view genomic region     (about GC identifiers)

Start:
35,441,923 bp from pter      End:
35,766,909 bp from pter
Size:
324,987 bases      Orientation:
minus 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: ACACA_HUMAN, Q13085 (See protein sequence)
Recommended Name: Acetyl-CoA carboxylase 1  
Size: 2346 amino acids; 265554 Da
Cofactor: Biotin
Cofactor: Binds 2 manganese ions per subunit
Subunit: Monomer, homodimer, and homotetramer. Can form filamentous polymers. Interacts in its inactive
phosphorylated form with the BRCT domains of BRCA1 which prevents ACACA dephosphorylation and inhibits lipid
synthesis. Interacts with MID1IP1; interaction with MID1IP1 promotes oligomerization and increases its activity
Subcellular location: Cytoplasm
Sequence caution: Sequence=AAP94120.1; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for ACACA:
2YL2 (3D)        3COJ (3D)        4ASI (3D)    
Secondary accessions: B2RP68 Q6KEV6 Q6XDA8 Q7Z2G8 Q7Z561 Q7Z563 Q7Z564 Q86WB2 Q86WB3
Alternative promoter usage: 4 isoforms:  Q13085-1   Q13085-2   Q13085-3   Q13085-4   

Explore the universe of human proteins at neXtProt for ACACA: NX_Q13085

Explore proteomics data for ACACA at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation on Ser-1263 is required for interaction with BRCA1
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13085

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

    ACACA Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_942131.1  NP_942133.1  NP_942134.1  NP_942135.1  NP_942136.1  

    ENSEMBL proteins: 
     ENSP00000344789   ENSP00000353898   ENSP00000377928   ENSP00000467820   ENSP00000335323  
     ENSP00000467354   ENSP00000466486   ENSP00000465478   ENSP00000390132   ENSP00000464763  
     ENSP00000377925   ENSP00000397282   ENSP00000391737   ENSP00000464991   ENSP00000391001  
     ENSP00000354565   ENSP00000399445  
    Reactome Protein details: Q13085
    Human Recombinant Protein Products for ACACA: 
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for ACACA
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    Novus Biologicals ACACA Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--

    ACACA for ontologies           About GeneDecksing



    ACACA Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of ACACA
    R&D Systems Antibodies for ACACA (Acetyl-CoA Carboxylase alpha/ACACA)
    Cell Signaling Technology (CST) Antibodies for ACACA  (ACC1)
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    Novus Biologicals ACACA Antibodies
    Abcam antibodies for ACACA
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    ThermoFisher Antibodies for ACACA
    LSBio Antibodies in human, mouse, rat for ACACA 

    Assay Products for ACACA: 
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    Cell Signaling Technology (CST) Sandwich ELISA Kits for ACACA (ACC1)
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (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 1 
    Carboxylases

    5/16 InterPro protein domains (see all 16):
     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 Q13085

    ProtoNet protein and cluster: Q13085

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


    UniProtKB/Swiss-Prot: ACACA_HUMAN, Q13085
    Similarity: Contains 1 ATP-grasp domain
    Similarity: Contains 1 biotin carboxylation domain
    Similarity: Contains 1 biotinyl-binding domain
    Similarity: Contains 1 carboxyltransferase domain


    ACACA 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: ACACA_HUMAN, Q13085
    Function: Catalyzes the rate-limiting reaction in the biogenesis of long-chain fatty acids. 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: By phosphorylation (By similarity). Activity is increased by oligomerization. Citrate and
    MID1IP1 promote oligomerization

         Genatlas biochemistry entry for ACACA:
    acetyl-CoA carboxylase alpha,265kDa,biotine dependent,expressed in lipogenic tissues,cytosolic,catalyzing the
    synthesis of malonyl-CoA,an intermediate substrate playing a pivotal role in the regulation of fatty acid
    metabolism

         Enzyme Number (IUBMB): EC 6.4.1.21

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0003989acetyl-CoA carboxylase activity TAS--
    GO:0004075biotin carboxylase activity IEA--
    GO:0005515protein binding IPI16326698
    GO:0005524ATP binding IEA--
         
    ACACA for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ACACA:
     Decreased influenza A/WSN/33 r 

         5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Acaca):
     embryogenesis  growth/size  homeostasis/metabolism  liver/biliary system  mortality/aging 

    ACACA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ACACA: Acacatm1.1Jkus Acacatm1Sjw

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ACACA 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ACACA

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

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACACA
    8/39 QIAGEN miScript miRNA Assays for microRNAs that regulate ACACA (see all 39):
    hsa-miR-4317 hsa-miR-140-5p hsa-miR-429 hsa-miR-15a hsa-miR-29a hsa-miR-424 hsa-miR-200b hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidACACA 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ACACA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACACA

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ACACA


    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ACACA (see all 21)
    OriGene ORF clones in mouse, rat for ACACA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): ACACA (NM_198838)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACACA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACACA

    Cell Line
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    Search LifeMap BioReagents cell lines for ACACA
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACACA


    (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 ACACA 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
    2Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.67
    SREBP signalling0.37
    Activation of Gene Expression by SREBP (SREBF)0.67
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    4Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors1.00
    Metabolism of vitamins and cofactors1.00
    5Fatty Acyl-CoA Biosynthesis
    Fatty Acyl-CoA Biosynthesis0.78
    Triglyceride Biosynthesis0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ACACA
        AMPK Enzyme Complex Pathway

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

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

    5 BioSystems Pathways for ACACA
        AMPK signaling
    SREBP signalling
    Leptin signaling pathway
    biotin-carboxyl carrier protein assembly
    Fatty Acid Biosynthesis

    5/13        Reactome Pathways for ACACA (see all 13)
        Metabolism
    Metabolism of vitamins and cofactors
    Triglyceride Biosynthesis
    Integration of energy metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism

    1 PharmGKB Pathway for ACACA
        Metformin Pathway, Pharmacodynamic

    5         Kegg Pathways  (Kegg details for ACACA):
        Fatty acid biosynthesis
    Pyruvate metabolism
    Propanoate metabolism
    Metabolic pathways
    Insulin signaling pathway

    UniProtKB/Swiss-Prot: ACACA_HUMAN, Q13085
    Pathway: Lipid metabolism; malonyl-CoA biosynthesis; malonyl-CoA from acetyl-CoA: step 1/1


    ACACA for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ACACA

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

    5/47 Interacting proteins for ACACA (Q130851, 3 ENSP000003447894) via UniProtKB, MINT, STRING, and/or I2D (see all 47)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    BRCA1P383981, 3, ENSP000003502834EBI-717681,EBI-349905 I2D: score=4 STRING: ENSP00000350283
    SIRT1Q96EB61, 3, ENSP000002120154EBI-717681,EBI-1802965 I2D: score=4 STRING: ENSP00000212015
    AKR1B10O602181, 3, ENSP000003525844EBI-717681,EBI-1572139 I2D: score=2 STRING: ENSP00000352584
    ATXN1P542533, ENSP000002447694I2D: score=3 STRING: ENSP00000244769
    CSNK2A2P197843, ENSP000002625064I2D: score=2 STRING: ENSP00000262506
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001894tissue homeostasis IEA--
    GO:0006084acetyl-CoA metabolic process ISS--
    GO:0006112energy reserve metabolic process TAS--
    GO:0006629lipid metabolic process ----
    GO:0006633fatty acid biosynthetic process ISS--

    ACACA 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

    ACACA for compounds           About GeneDecksing

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

    Browse Tocris compounds for ACACA

    7 HMDB Compounds for ACACA    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--

    1 DrugBank Compound for ACACA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Biotin(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid (see all 7)58-85-5target--16636450 17468269 16545081 16460018 16707089

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

    10/39 Novoseek inferred chemical compound relationships for ACACA gene (see all 39)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acetyl-coa 96.2 219 19236960 (2), 12810950 (2), 15333468 (2), 16707454 (2) (see all 99)
    aicar 84 17 17173081 (3), 11420304 (2), 10548499 (1), 19190259 (1) (see all 9)
    fatty acid 83.7 199 17173081 (6), 7937924 (3), 18056116 (3), 15749055 (3) (see all 99)
    malonyl-coa 81.8 14 10212840 (2), 18614968 (1), 12392882 (1), 11420304 (1) (see all 7)
    sterol 75.6 23 19054139 (1), 20032471 (1), 15648028 (1), 19932008 (1) (see all 16)
    cerulenin 67.5 3 19932008 (1), 11444828 (1), 20372807 (1)
    acadesine 64.2 3 9781330 (1), 11423479 (1), 17173081 (1)
    2-bromopalmitate 61.5 1 9032094 (1)
    3-hydroxy-3-methylglutaryl-coa 58.7 2 19036562 (1)
    carnitine 58.1 4 7882173 (1), 11420304 (1), 15749055 (1), 16371598 (1)

    Search CenterWatch for drugs/clinical trials and news about ACACA

    (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 ACACA gene (7 alternative transcripts): 
    NM_198834.1  NM_198836.1  NM_198837.1  NM_198838.1  NM_198839.1  NM_000664.3  NM_198835.1  

    Unigene Cluster for ACACA:

    Acetyl-CoA carboxylase alpha
    Hs.160556  [show with all ESTs]
    Unigene Representative Sequence: NM_198839
    18/26 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000353139(uc010wdb.2 uc010wdc.2 uc010cuy.3 uc002hnn.3 uc002hno.3 uc002hnq.2)
    ENST00000360679(uc002hnl.3) ENST00000394406(uc002hnm.3 uc010cuz.3)
    ENST00000591119 ENST00000335166(uc002hnk.3) ENST00000587233 ENST00000586821
    ENST00000593055 ENST00000592427 ENST00000586621 ENST00000587598 ENST00000587720
    ENST00000590888 ENST00000592243 ENST00000456066 ENST00000591148 ENST00000394403(uc002hnp.1)
    ENST00000451642(uc002hnr.1)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACACA
    8/39 QIAGEN miScript miRNA Assays for microRNAs that regulate ACACA (see all 39):
    hsa-miR-4317 hsa-miR-140-5p hsa-miR-429 hsa-miR-15a hsa-miR-29a hsa-miR-424 hsa-miR-200b hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidACACA 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ACACA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACACA
    Clone
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    OriGene clones in human, mouse for ACACA (see all 21)
    OriGene ORF clones in mouse, rat for ACACA
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    GenScript: all cDNA clones in your preferred vector (see all 5): ACACA (NM_198838)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACACA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACACA
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACACA
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACACA

    Additional mRNA sequence: 

    AB209325.1 AB371587.1 AJ534888.1 AJ534889.1 AJ564444.1 AK129523.1 AK295586.1 AK295735.1 
    AK295805.1 AK296368.1 AK301579.1 AK308905.1 AK309084.1 AK309424.1 AK311329.1 AY237919.1 
    AY315619.1 AY315620.1 AY315621.1 AY315622.1 AY315623.1 AY315624.1 AY315625.1 AY315626.1 
    AY315627.1 BC031485.1 BC041598.1 BC137287.1 

    20 DOTS entries:

    DT.100736813  DT.100736812  DT.101985128  DT.101962203  DT.95073752  DT.101985129  DT.453728  DT.40126576 
    DT.95290901  DT.99980749  DT.306840  DT.40268334  DT.455923  DT.91753337  DT.101959023  DT.120894008 
    DT.405329  DT.95073749  DT.100804380  DT.120893919 

    24/310 AceView cDNA sequences (see all 310):

    AI566190 CD171580 NM_198839 N62689 AI627394 AA464580 NM_198834 AY315624 
    BX096741 AL704604 BM474453 BM553580 BM676122 BE292887 AI081173 BF059612 
    BE780423 BM475067 AA480201 BU947722 BM712779 BU621241 T33144 Z38467 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ACACA (see all 10)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
    SP1:                                                              -     -                                                                                       
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                    -                                                                                       
    SP5:              -     -     -     -     -                       -                                                                                             

    ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39a · 39b ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                        -   
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 48 ^ 49 ^ 50 ^ 51 ^ 52 ^ 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58 ^ 59 ^ 60 ^ 61a · 61b ^ 62 ^ 63a · 63b
    SP1:                                                                                                            
    SP2:                                                                                                            
    SP3:                                                                                                            
    SP4:                                                                                                            
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for ACACA

    (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

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


    ACACA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/14 selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
             skeleton/cranium   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Eye (Sensory Organs)
             Retina

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

    SOURCE GeneReport for Unigene cluster: Hs.160556

    UniProtKB/Swiss-Prot: ACACA_HUMAN, Q13085
    Tissue specificity: Expressed in brain, placental, skeletal muscle, renal, pancreatic and adipose tissues;
    expressed at low level in pulmonary tissue; not detected in the liver

        SABiosciences Expression via Pathway-Focused PCR Arrays including ACACA: 
              Insulin Signaling Pathway in human mouse rat
              Insulin Resistance in human mouse rat
              Prostate Cancer in human mouse rat
              Fatty Liver in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACACA

    (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 ACACA gene from 9/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acaca1 , 5 acetyl-Coenzyme A carboxylase alpha1, 5 91.23(n)1
    97.61(a)1
      11 (51.29 cM)5
    1074761  NM_133360.21  NP_579938.21 
     841296725 
    chicken
    (Gallus gallus)
    Aves ACACA1 acetyl-CoA carboxylase alpha 82.01(n)
    93.28(a)
      396504  NM_205505.1  NP_990836.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACACA6
    --
    Uncharacterized protein
    89(a)
    59(a)
    1 ↔ 1
    possible ortholog
    GL343439.1(138134-248153)
    GL343439.1(89404-99724)
    zebrafish
    (Danio rerio)
    Actinopterygii acaca1 acetyl-Coenzyme A carboxylase alpha 75.56(n)
    87.89(a)
      559403  XM_001919780.3  XP_001919815.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG111983
    ACC1
    acetyl-CoA carboxylase3
    Acetyl-CoA carboxylase1
    61(a)3
    62.49(n)1
    64.34(a)1
      357611  NM_136498.21  NP_610342.11 
    worm
    (Caenorhabditis elegans)
    Secernentea W09B6.13 acetyl-CoA carboxylase 43(a)
    (best of 2)
      II(1143941-1152380)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HFA1(YMR207C)4
    ACC11
    Mitochondrial acetyl-coenzyme A carboxylase, catalyzes more4
    Acc1p1
    52.89(n)1
    47.05(a)1
      13(683564-677193)4
    8557501  NP_014413.11  8552474 
     NP_013934.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ACC11 acetyl-CoA carboxylase 1 50.51(n)
    42.27(a)
      840521  NM_103313.3  NP_174849.2 
    rice
    (Oryza sativa)
    Liliopsida NM_196052.12   -- 74.15(n)    NM_196052.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACACA gene
    ACACB2  
    2 SIMAP similar genes for ACACA using alignment to 13 protein entries:     ACACA_HUMAN (see all proteins):
    ACC1    ACACB

    ACACA 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

    10/5240 SNPs in ACACA are shown (see all 5240)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0365144
    A colorectal cancer sample4--see VAR_0365142 R Q mis40--------
    VAR_0289294
    ----see VAR_0289292 A V mis40--------
    rs725381671,2
    C--35441444(+) TTTAC-/CTWGAGT 5 -- ds50010--------
    rs58202051,2
    C,F--35441445(+) TTACACT/-GAGTT 5 -- ds50012Minor allele frequency- -:0.50NA CSA 4
    rs742211451,2
    --35441446(+) TACACA/TGAGTT 5 -- ds50010--------
    rs80791571,2
    C,F--35441759(+) GGCTGG/ACCAAG 5 -- ds50013Minor allele frequency- A:0.10WA CSA 122
    rs1406215311,2
    --35441942(+) ATGTAC/GAGGTT 5 -- ut310--------
    rs779988871,2
    C,F--35441961(+) CAAAAT/GGTGTA 5 -- ut311Minor allele frequency- G:0.09WA 118
    rs171390411,2
    C,F,H--35442059(+) AGATAA/GTATGG 5 -- ut3114Minor allele frequency- G:0.03NA NS EA WA 1452
    rs1443635741,2
    --35442127(+) AGTAGA/CCTTGC 5 -- ut310--------

    HapMap Linkage Disequilibrium report for ACACA (35441923 - 35691923 bp, first 250kb of ACACA)

    Structural Variations
         Database of Genomic Variants (DGV) 10/22 variations for ACACA (see all 22):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2715887CNV Deletion23290073
    esv2715888CNV Deletion23290073
    esv2667392CNV Deletion23128226
    esv2658235CNV Deletion23128226
    dgv547e199CNV Deletion23128226
    nsv820411CNV Deletion20802225
    dgv548e199CNV Deletion23128226
    esv2661121CNV Deletion23128226
    esv999747CNV Insertion20482838
    nsv511589CNV Loss21212237


    Human Gene Mutation Database (HGMD): ACACA
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ACACA
    DNA2.0 Custom Variant and Variant Library Synthesis for ACACA

    (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: 200350    OMIM disorders: --

    UniProtKB/Swiss-Prot: ACACA_HUMAN, Q13085
  • Acetyl-CoA carboxylase 1 deficiency (ACACAD) [MIM:613933]: An inborn error of de novo fatty acid
    synthesis associated with severe brain damage, persistent myopathy and poor growth. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 20/24 diseases for ACACA (see all 24):    About MalaCards
    multiple carboxylase deficiency    hypobetalipoproteinemia    uremia    liposarcoma
    fatty liver disease    breast cancer susceptibility    insulin resistance    obesity
    liver disease    ischemia    breast cancer    myopathy
    ovarian cancer    colon cancer    alcoholism    tuberculosis
    hypoxia    endotheliitis    thyroiditis    prostate cancer


    ACACA for disorders           About GeneDecksing

    10/12 Novoseek inferred disease relationships for ACACA gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fatty liver 59 3 20457939 (1), 20139635 (1), 18395093 (1)
    obesity 45.1 6 19618481 (3), 19851294 (1), 20139635 (1), 20036965 (1)
    insulin sensitivity 43 5 16046303 (2), 19169664 (1), 1346611 (1)
    hyperinsulinemia 42.6 1 8869748 (1)
    dyslipidemia 33.1 1 19851294 (1)
    insulin resistance 27.7 2 19390150 (1), 19851294 (1)
    ovarian cancer 15.1 4 15333468 (1), 16707454 (1)
    breast cancer 4.89 30 15333468 (7), 17372234 (4), 17631500 (3), 16707454 (2) (see all 7)
    ischemia 0 1 11052978 (1)
    shock 0 2 12670701 (1)

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

    Export disorders for ACACA 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 ACACA gene, integrated from 9 sources (see all 299):
    (articles sorted by number of sources associating them with ACACA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Acetyl-CoA carboxylase alpha gene and breast cancer susceptibility. (PubMed id 15333468)1, 2, 4, 9 Sinilnikova O.M.... Lenoir G.M. (2004)
    2. Human acetyl-CoA carboxylase 1 gene: presence of three promoters and heterogeneity at the 5'-untranslated mRNA region. (PubMed id 12810950)1, 2, 9 Mao J.... Wakil S.J. (2003)
    3. Haplotype-based analysis of common variation in the acetyl-coA carboxylase alpha gene and breast cancer risk: a case-control study nested within the European Prospective Investigation into Cancer and Nutrition. (PubMed id 17372234)1, 4, 9 Sinilnikova O.M....Kaaks R. (2007)
    4. Asymmetric expression of transcripts derived from the shared promoter between the divergently oriented ACACA and TADA2L genes. (PubMed id 15607423)1, 2, 9 Travers M.T....Joulin V. (2005)
    5. Characterisation of an N-terminal variant of acetyl-CoA carboxylase- alpha: expression in human tissues and evolutionary aspects. (PubMed id 14643797)1, 2, 9 Travers M.T....Barber M.C. (2003)
    6. 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)
    7. BRCA1 affects lipid synthesis through its interaction with acetyl-CoA carboxylase. (PubMed id 16326698)1, 2, 9 Moreau K.... Venezia N.D. (2006)
    8. Human acetyl-CoA carboxylase: characterization, molecular cloning, and evidence for two isoforms. (PubMed id 7732023)1, 2, 9 Abu-Elheiga L.... Wakil S.J. (1995)
    9. BRCA1 interacts with acetyl-CoA carboxylase through its tandem of BRCT domains. (PubMed id 12360400)1, 2, 9 Magnard C.... Venezia N.D. (2002)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (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: 31 HGNC: 84 AceView: ACACA Ensembl:ENSG00000132142 euGenes: HUgn31
    ECgene: ACACA Kegg: 31 H-InvDB: ACACA

    (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 ACACA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ACACA Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Acetyl-CoA_carboxylase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ACACA gene:
    Search GeneIP for patents involving ACACA

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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