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Aliases for ACACA Gene

Aliases for ACACA Gene

  • Acetyl-CoA Carboxylase Alpha 2 3
  • ACC1 3 4 6
  • ACAC 3 4 6
  • Acetyl-Coenzyme A Carboxylase Alpha 2 3
  • Acetyl-CoA Carboxylase 1 2 3
  • ACC-Alpha 3 4
  • ACACAD 3 6
  • ACCA 3 4
  • EC 4
  • ACC 3

External Ids for ACACA Gene

Previous HGNC Symbols for ACACA Gene

  • ACAC
  • ACC

Previous GeneCards Identifiers for ACACA Gene

  • GC17M034828
  • GC17M037396
  • GC17M035173
  • GC17M035639
  • GC17M035637
  • GC17M032516
  • GC17M035441
  • GC17M031378

Summaries for ACACA Gene

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 acetyl-coa carboxylase deficiency and multiple carboxylase deficiency. Among its related pathways are Disease and Regulation of Cholesterol Biosynthesis by SREBP (SREBF). GO annotations related to this gene include biotin carboxylase activity and acetyl-CoA carboxylase activity.

UniProtKB/Swiss-Prot for ACACA Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACACA Gene

Genomics for ACACA Gene

Regulatory Elements for ACACA Gene

Genomic Location for ACACA Gene

37,084,988 bp from pter
37,406,822 bp from pter
321,835 bases
Minus strand

Genomic View for ACACA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACACA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACACA Gene

Proteins for ACACA Gene

  • Protein details for ACACA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Acetyl-CoA carboxylase 1
    Protein Accession:
    Secondary Accessions:
    • B2RP68
    • Q6KEV6
    • Q6XDA8
    • Q7Z2G8
    • Q7Z561
    • Q7Z563
    • Q7Z564
    • Q86WB2
    • Q86WB3

    Protein attributes for ACACA Gene

    2346 amino acids
    Molecular mass:
    265554 Da
    Name=biotin; Xref=ChEBI:CHEBI:57586;
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Note=Binds 2 manganese ions per subunit.;
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for ACACA Gene

    Alternative splice isoforms for ACACA Gene


neXtProt entry for ACACA Gene

Proteomics data for ACACA Gene at MOPED

Post-translational modifications for ACACA Gene

  • Phosphorylation on Ser-1263 is required for interaction with BRCA1.
  • Ubiquitination at Lys288 and Lys1759
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for ACACA (Acetyl-CoA Carboxylase alpha/ACACA)
  • Cell Signaling Technology (CST) Antibodies for ACACA (ACC1)

No data available for DME Specific Peptides for ACACA Gene

Domains for ACACA Gene

Gene Families for ACACA Gene

Suggested Antigen Peptide Sequences for ACACA Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 ATP-grasp domain.
  • Contains 1 ATP-grasp domain.
  • Contains 1 biotin carboxylation domain.
  • Contains 1 biotinyl-binding domain.
  • Contains 1 carboxyltransferase domain.
genes like me logo Genes that share domains with ACACA: view

Function for ACACA Gene

Molecular function for ACACA Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + acetyl-CoA + HCO(3)(-) = ADP + phosphate + malonyl-CoA.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + biotin-[carboxyl-carrier-protein] + HCO(3)(-) = ADP + phosphate + carboxy-biotin-[carboxyl-carrier-protein].
UniProtKB/Swiss-Prot EnzymeRegulation:
By phosphorylation (By similarity). Activity is increased by oligomerization. Citrate and MID1IP1 promote oligomerization.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for ACACA Gene

Gene Ontology (GO) - Molecular Function for ACACA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0003989 acetyl-CoA carboxylase activity TAS --
GO:0004075 biotin carboxylase activity IEA --
GO:0005515 protein binding IPI 16326698
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ACACA: view
genes like me logo Genes that share phenotypes with ACACA: view

Animal Models for ACACA Gene

MGI Knock Outs for ACACA:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACACA

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ACACA Gene

Localization for ACACA Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACACA Gene


Subcellular locations from

Jensen Localization Image for ACACA Gene COMPARTMENTS Subcellular localization image for ACACA gene
Compartment Confidence
cytosol 4
mitochondrion 3
chloroplast 2
nucleus 2
peroxisome 2

Gene Ontology (GO) - Cellular Components for ACACA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0015629 actin cytoskeleton IDA --
genes like me logo Genes that share ontologies with ACACA: view

Pathways for ACACA Gene

SuperPathways for ACACA Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
3 Metabolism
4 Fatty acid metabolism
5 Fatty acid, triacylglycerol, and ketone body metabolism
genes like me logo Genes that share pathways with ACACA: view

PCR Array Products

UniProtKB/Swiss-Prot Q13085-ACACA_HUMAN

  • Pathway: Lipid metabolism; malonyl-CoA biosynthesis; malonyl-CoA from acetyl-CoA: step 1/1

Gene Ontology (GO) - Biological Process for ACACA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001894 tissue homeostasis IEA --
GO:0006084 acetyl-CoA metabolic process ISS --
GO:0006112 energy reserve metabolic process TAS --
GO:0006629 lipid metabolic process --
GO:0006633 fatty acid biosynthetic process ISS --
genes like me logo Genes that share ontologies with ACACA: view

Drugs for ACACA Gene

(1) Drugbank Compounds for ACACA Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
  • (+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid
58-85-5 171548 Target approved, nutraceutical

(9) HMDB Compounds for ACACA Gene

Compound Synonyms Cas Number PubMed IDs
  • Ac-CoA
Adenosine triphosphate
  • 5'-(Tetrahydrogen triphosphate) Adenosine
  • Adenosindiphosphorsaeure
  • (+)-Biotin
Carbonic acid
  • Acid of air

(1) IUPHAR Ligand for ACACA Gene

Ligand Type Action Affinity Pubmed IDs
TOFA Inhibitor Inhibition

(39) Novoseek inferred chemical compound relationships for ACACA Gene

Compound -log(P) Hits PubMed IDs
acetyl-coa 96.2 107
aicar 84 12
fatty acid 83.7 123
malonyl-coa 81.8 8
sterol 75.6 16
genes like me logo Genes that share compounds with ACACA: view

Transcripts for ACACA Gene

Unigene Clusters for ACACA Gene

Acetyl-CoA carboxylase alpha:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACACA

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACACA Gene

No ASD Table

Relevant External Links for ACACA Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ACACA Gene

mRNA expression in normal human tissues for ACACA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for ACACA Gene

This gene is overexpressed in Breast (8.5) and Lung (6.3).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for ACACA Gene

SOURCE GeneReport for Unigene cluster for ACACA Gene Hs.160556

mRNA Expression by UniProt/SwissProt for ACACA Gene

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
genes like me logo Genes that share expressions with ACACA: view

Expression partners for ACACA Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ACACA Gene

Orthologs for ACACA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACACA Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ACACA 35
  • 91.18 (n)
  • 97.61 (a)
(Canis familiaris)
Mammalia ACACA 35
  • 93.57 (n)
  • 97.94 (a)
(Mus musculus)
Mammalia Acaca 35
  • 91.23 (n)
  • 97.61 (a)
Acaca 16
(Pan troglodytes)
Mammalia ACACA 35
  • 99.62 (n)
  • 99.92 (a)
(Rattus norvegicus)
Mammalia Acaca 35
  • 90.46 (n)
  • 97.4 (a)
(Gallus gallus)
Aves ACACA 35
  • 82.01 (n)
  • 93.28 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia acaca 35
  • 78.77 (n)
  • 92.54 (a)
(Danio rerio)
Actinopterygii acaca 35
  • 75.56 (n)
  • 87.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11198 37
  • 61 (a)
ACC 35
  • 62.51 (n)
  • 64.32 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005175 35
  • 60.56 (n)
  • 64.74 (a)
(Caenorhabditis elegans)
Secernentea T28F3.5 37
  • 41 (a)
W09B6.1 37
  • 43 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR071W 35
  • 53.14 (n)
  • 48.58 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06072g 35
  • 53.11 (n)
  • 48.23 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACC1 35
  • 53.16 (n)
  • 47.53 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ACC2 35
  • 50.54 (n)
  • 42.84 (a)
(Hordeum vulgare)
Liliopsida Hv.8708 35
(Zea mays)
Liliopsida Zm.264 35
bread mold
(Neurospora crassa)
Ascomycetes NCU08535 35
  • 53 (n)
  • 48.52 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cut6 35
  • 53.16 (n)
  • 48.43 (a)
Species with no ortholog for ACACA:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACACA Gene

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

Paralogs for ACACA Gene

genes like me logo Genes that share paralogs with ACACA: view

No data available for Paralogs for ACACA Gene

Variants for ACACA Gene

Sequence variations from dbSNP and Humsavar for ACACA Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs1714613 -- 37,365,894(+) AGTCT(C/T)TATAC intron-variant
rs1664313 -- 37,098,775(-) TACCC(C/T)GCGCA intron-variant
rs1664312 -- 37,110,652(+) ATACA(C/G)TCCAC intron-variant
rs1664311 -- 37,110,331(+) AAGTG(G/T)ACAGG intron-variant
rs1664310 -- 37,110,161(+) ATTGC(C/T)GCCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ACACA Gene

Variant ID Type Subtype PubMed ID
esv999747 CNV Insertion 20482838
nsv527922 CNV Gain 19592680
esv2661121 CNV Deletion 23128226
esv2715887 CNV Deletion 23290073
dgv955e1 CNV Complex 17122850
nsv510707 CNV Loss 20534489
esv2658235 CNV Deletion 23128226
esv32692 CNV Loss 17666407
esv2667392 CNV Deletion 23128226
nsv511589 CNV Loss 21212237
dgv547e199 CNV Deletion 23128226
nsv510437 CNV Loss 20534489
nsv9542 CNV Gain+Loss 18304495
nsv820411 CNV Deletion 20802225
nsv827974 CNV Loss 20364138
dgv548e199 CNV Deletion 23128226
nsv819713 CNV Gain 19587683
nsv512484 CNV Loss 21212237
esv2715888 CNV Deletion 23290073
esv23271 CNV Gain+Loss 19812545
nsv514840 CNV Loss 21397061
dgv14n14 CNV Loss 18776910

Relevant External Links for ACACA Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACACA Gene

Disorders for ACACA Gene

(1) OMIM Diseases for ACACA Gene (200350)


  • 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. {ECO:0000269 PubMed:6114432}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(12) Novoseek inferred disease relationships for ACACA Gene

Disease -log(P) Hits PubMed IDs
fatty liver 59 3
obesity 45.1 6
insulin sensitivity 43 4
hyperinsulinemia 42.6 1
dyslipidemia 33.1 1

Relevant External Links for ACACA

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with ACACA: view

No data available for University of Copenhagen DISEASES and Genatlas for ACACA Gene

Publications for ACACA Gene

  1. Acetyl-CoA carboxylase alpha gene and breast cancer susceptibility. (PMID: 15333468) Sinilnikova O.M. … Lenoir G.M. (Carcinogenesis 2004) 3 4 23 48
  2. BRCA1 affects lipid synthesis through its interaction with acetyl-CoA carboxylase. (PMID: 16326698) Moreau K. … Venezia N.D. (J. Biol. Chem. 2006) 3 4 23
  3. Acetyl-coenzyme A carboxylase alpha gene variations may be associated with the direct effects of some antipsychotics on triglyceride levels. (PMID: 19846279) Diaz F.J. … de Leon J. (Schizophr. Res. 2009) 3 23 48
  4. 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. (PMID: 17372234) Sinilnikova O.M. … Kaaks R. (Cancer Epidemiol. Biomarkers Prev. 2007) 3 23 48
  5. Human acetyl-CoA carboxylase 1 gene: presence of three promoters and heterogeneity at the 5'-untranslated mRNA region. (PMID: 12810950) Mao J. … Wakil S.J. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3 4 23

Products for ACACA Gene

Sources for ACACA Gene

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