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Aliases for ACACA Gene

Aliases for ACACA Gene

  • Acetyl-CoA Carboxylase Alpha 2 3
  • Acetyl-Coenzyme A Carboxylase Alpha 2 3
  • ACC-Alpha 3 4
  • ACC1 3 4
  • ACAC 3 4
  • ACCA 3 4
  • Acetyl-CoA Carboxylase 1 2
  • EC 6.4.1.2 4
  • ACACAD 3
  • 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 aplasia cutis congenita, nonsyndromic. Among its related pathways are Infectious disease and Regulation of cholesterol biosynthesis by SREBP (SREBF). GO annotations related to this gene include ligase activity and D-alanine-D-alanine ligase 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

Chromosome:
17
Start:
37,084,988 bp from pter
End:
37,406,822 bp from pter
Size:
321,835 bases
Orientation:
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:
    Q13085-ACACA_HUMAN
    Recommended name:
    Acetyl-CoA carboxylase 1
    Protein Accession:
    Q13085
    Secondary Accessions:
    • B2RP68
    • Q6KEV6
    • Q6XDA8
    • Q7Z2G8
    • Q7Z561
    • Q7Z563
    • Q7Z564
    • Q86WB2
    • Q86WB3

    Protein attributes for ACACA Gene

    Size:
    2346 amino acids
    Molecular mass:
    265554 Da
    Cofactor:
    Name=biotin; Xref=ChEBI:CHEBI:57586;
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

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 Lys 288 and Lys 1759
  • 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 & Families for ACACA Gene

Gene Families for ACACA Gene

Suggested Antigen Peptide Sequences for ACACA Gene

Graphical View of Domain Structure for InterPro Entry

Q13085

UniProtKB/Swiss-Prot:

ACACA_HUMAN :
  • Contains 1 ATP-grasp domain.
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

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACACA Gene COMPARTMENTS Subcellular localization image for ACACA gene
Compartment Confidence
extracellular 5
cytoskeleton 4
cytosol 4
nucleus 4
chloroplast 2
mitochondrion 2
endoplasmic reticulum 1
peroxisome 1
plasma membrane 1

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 & Interactions for ACACA Gene

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

SIGNOR curated interactions for ACACA Gene

Is activated by:
Is inactivated by:

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 & Compounds for ACACA Gene

(26) Drugs for ACACA Gene - From: NovoSeek, HMDB, IUPHAR, DGIdb, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved Nutra Target 34
Adenosine triphosphate Approved Nutra 0
Cerulenin Approved Pharma 0
Metformin Approved Pharma AMP-activated protein kinase (AMPK) activator 1573
Nitric Oxide Approved Pharma 540

(20) Additional Compounds for ACACA Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
Carbonic acid
  • Acid of air
  • Aerial acid
  • Bisodium carbonate
  • Calcined
  • Carbonic acid sodium salt
463-79-6
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
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
ACACA
ECgene alternative splicing isoforms for
ACACA

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 from HIPED for ACACA Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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

Q13085-ACACA_HUMAN
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 expression patterns with ACACA: view

Protein tissue co-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
cow
(Bos Taurus)
Mammalia ACACA 35
  • 91.18 (n)
  • 97.61 (a)
dog
(Canis familiaris)
Mammalia ACACA 35
  • 93.57 (n)
  • 97.94 (a)
mouse
(Mus musculus)
Mammalia Acaca 35
  • 91.23 (n)
  • 97.61 (a)
Acaca 16
chimpanzee
(Pan troglodytes)
Mammalia ACACA 35
  • 99.62 (n)
  • 99.92 (a)
rat
(Rattus norvegicus)
Mammalia Acaca 35
  • 90.46 (n)
  • 97.4 (a)
chicken
(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)
zebrafish
(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)
worm
(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)
barley
(Hordeum vulgare)
Liliopsida Hv.8708 35
corn
(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

ENSEMBL:
Gene Tree for ACACA (if available)
TreeFam:
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
rs17148 -- 37,310,218(+) TCAAT(C/T)GGAGA intron-variant
rs829158 -- 1(+) GCAAA(A/C)GTTTT intron-variant
rs829159 -- 37,400,649(+) cactt(A/T)gcata intron-variant
rs829161 -- 37,403,775(+) TGCTA(C/T)GAttt intron-variant
rs829162 -- 37,403,930(-) ctggg(C/T)gtggt 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

Variation tolerance for ACACA Gene

Residual Variation Intolerance Score: .54% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.69; 46.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACACA Gene

HapMap Linkage Disequilibrium report
ACACA
Human Gene Mutation Database (HGMD)
ACACA

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

Disorders for ACACA Gene

MalaCards: The human disease database

(7) MalaCards diseases for ACACA Gene - From: OMIM, GeneTests, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
acetyl-coa carboxylase deficiency
  • acetyl-coa: carboxylase deficiency
aplasia cutis congenita, nonsyndromic
  • aplasia cutis congenita, non-syndromic
multiple carboxylase deficiency
  • holocarboxylase synthetase deficiency
biotin deficiency
  • b7 deficiency
hepatic coma
  • hepatocerebral intoxication
- elite association
Search ACACA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACACA_HUMAN
  • 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.

Relevant External Links for ACACA

Genetic Association Database (GAD)
ACACA
Human Genome Epidemiology (HuGE) Navigator
ACACA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACACA
genes like me logo Genes that share disorders with ACACA: view

No data available for Genatlas for ACACA Gene

Publications for ACACA Gene

  1. Regulation of acetyl-CoA carboxylase. (PMID: 16545081) Brownsey R.W. … Lee W.M. (Biochem. Soc. Trans. 2006) 23 25 26 67
  2. The gene expression of the main lipogenic enzymes is downregulated in visceral adipose tissue of obese subjects. (PMID: 19543203) Ortega F.J. … FernA!ndez-Real J.M. (Obesity (Silver Spring) 2010) 23 67
  3. Decreased insulin secretion and accumulation of triglyceride in beta cells overexpressing a dominant-negative form of AMP-activated protein kinase. (PMID: 19926919) Okazaki Y. … Kadowaki T. (Endocr. J. 2010) 23 67
  4. C1qTNF-related protein-6 mediates fatty acid oxidation via the activation of the AMP-activated protein kinase. (PMID: 20102710) Lee W. … Park S.Y. (FEBS Lett. 2010) 23 67
  5. Recombinant yeast screen for new inhibitors of human acetyl-CoA carboxylase 2 identifies potential drugs to treat obesity. (PMID: 20439761) Marjanovic J. … Gornicki P. (Proc. Natl. Acad. Sci. U.S.A. 2010) 23 67

Products for ACACA Gene

Sources for ACACA Gene

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