Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ACACA Gene

Aliases for ACACA Gene

  • Acetyl-CoA Carboxylase Alpha 2 3 5
  • Acetyl-Coenzyme A Carboxylase Alpha 2 3
  • Acetyl-CoA Carboxylase 1 2 3
  • ACC-Alpha 3 4
  • ACAC 3 4
  • ACC1 3 4
  • ACCA 3 4
  • 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 Multiple Carboxylase Deficiency. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include ligase activity and D-alanine-D-alanine ligase activity. An important paralog of this gene is ACACB.

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.

Tocris Summary for ACACA Gene

Gene Wiki entry for ACACA Gene

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

Genomics for ACACA Gene

Regulatory Elements for ACACA Gene

Enhancers for ACACA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F037231 1.2 ENCODE 15.7 +174.6 174639 2.1 PKNOX1 ARNT FEZF1 ZNF2 ZNF121 FOS SP3 REST ZNF488 TSHZ1 ACACA ENSG00000276810 GC17M037328 GC17M037330
GH17F037429 0.5 ENCODE 12.5 -23.4 -23430 2.4 ZNF175 ZIC2 ZNF335 ZNF324 ZNF600 CREM MAFK ZBTB20 RNF2 CEBPB TADA2A ENSG00000277501 ENSG00000274756 ACACA DUSP14 C17orf78 DDX52 SYNRG GC17P037432 ENSG00000273965
GH17F037445 0.2 ENCODE 11.7 -39.5 -39456 0.7 TBP PKNOX1 BMI1 ZNF121 EED PRDM10 CREM CHD2 TCF7L2 MTA2 TADA2A ACACA C17orf78 LOC100419621 GC17P037432
GH17F037447 0.2 ENCODE 11.5 -41.1 -41069 1.1 HDAC1 ZNF324 SCRT2 NR2F6 FOS RNF2 HLF GFI1B NR2F1 CEBPB ACACA C17orf78 MRPL45 LOC100419621 GC17P037432
GH17F037449 0.6 ENCODE 11.5 -43.6 -43642 1.5 ATF1 SIN3A GLI4 YY1 ZNF335 SLC30A9 GLIS2 SCRT2 KDM4B SMARCA5 TADA2A ACACA C17orf78 DDX52 MRPL45 LOC100419621 GC17P037432
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ACACA on UCSC Golden Path with GeneCards custom track

Promoters for ACACA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001535581 222 2801 HDGF CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SP3

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

Genes around ACACA on UCSC Golden Path with GeneCards custom track

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

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 CoA carboxyltransferase C-terminal domain.
  • Contains 1 CoA carboxyltransferase N-terminal 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 IEA --
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

Human Phenotype Ontology for ACACA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACACA Gene

MGI Knock Outs for ACACA:

Animal Model Products

  • Taconic Biosciences Mouse Models for ACACA

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
cytoskeleton 5
cytosol 5
extracellular 5
mitochondrion 5
nucleus 5
chloroplast 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

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:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006633 fatty acid biosynthetic process ISS --
genes like me logo Genes that share ontologies with ACACA: view

Drugs & Compounds for ACACA Gene

(28) Drugs for ACACA Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved Nutra Target 43
Phosphoric acid Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Manganese Approved Nutra 34
malonyl-coa Experimental Pharma 0

(18) Additional Compounds for ACACA Gene - From: HMDB and Novoseek

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
Full agonist, Agonist 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
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:

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ACACA Gene



Protein tissue co-expression partners for ACACA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACACA Gene:

ACACA

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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia ACACA 34
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia ACACA 34
  • 93.57 (n)
mouse
(Mus musculus)
Mammalia Acaca 34 16
  • 91.23 (n)
cow
(Bos Taurus)
Mammalia ACACA 34
  • 91.18 (n)
rat
(Rattus norvegicus)
Mammalia Acaca 34
  • 90.46 (n)
chicken
(Gallus gallus)
Aves ACACA 34
  • 82.01 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia acaca 34
  • 78.77 (n)
zebrafish
(Danio rerio)
Actinopterygii acaca 34
  • 75.56 (n)
fruit fly
(Drosophila melanogaster)
Insecta ACC 34
  • 62.51 (n)
CG11198 36
  • 61 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005175 34
  • 60.56 (n)
worm
(Caenorhabditis elegans)
Secernentea W09B6.1 36
  • 43 (a)
T28F3.5 36
  • 41 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACC1 34
  • 53.16 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR071W 34
  • 53.14 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06072g 34
  • 53.11 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ACC2 34
  • 50.54 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.8708 34
corn
(Zea mays)
Liliopsida Zm.264 34
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cut6 34
  • 53.16 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08535 34
  • 53 (n)
Species where no ortholog for ACACA was found in the sources mined by GeneCards:
  • 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

Paralogs for ACACA Gene

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

Variants for ACACA Gene

Sequence variations from dbSNP and Humsavar for ACACA Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_036514 A colorectal cancer sample
rs10153271 -- 37,163,899(+) CTTCT(A/G)TATGA intron-variant
rs1046873 -- 37,144,986(-) ACATT(A/C)TCTAT intron-variant
rs10512477 -- 37,195,886(-) ATATT(C/T)GCCCA intron-variant
rs10512478 -- 37,138,817(-) TTGAA(A/G)TATAT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv3157n100 CNV gain 25217958
esv2658235 CNV deletion 23128226
esv2661121 CNV deletion 23128226
esv2667392 CNV deletion 23128226
esv2715887 CNV deletion 23290073
esv2758687 CNV gain 17122850
esv32692 CNV loss 17666407
esv3554382 CNV deletion 23714750
esv3640480 CNV gain 21293372
esv3640484 CNV gain 21293372
esv3640486 CNV loss 21293372
esv3640487 CNV gain 21293372
esv3640488 CNV loss 21293372
esv3640489 CNV loss 21293372
esv3640493 CNV gain 21293372
esv3640494 CNV gain 21293372
esv999747 CNV insertion 20482838
nsv1061019 CNV gain 25217958
nsv1061860 CNV gain 25217958
nsv1134644 CNV deletion 24896259
nsv1136234 CNV deletion 24896259
nsv510707 CNV deletion 20534489
nsv511589 CNV loss 21212237
nsv527922 CNV gain 19592680
nsv574926 CNV loss 21841781
nsv574927 CNV loss 21841781
nsv574928 CNV loss 21841781
nsv960476 CNV duplication 23825009

Variation tolerance for ACACA Gene

Residual Variation Intolerance Score: 0.542% 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

Human Gene Mutation Database (HGMD)
ACACA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACACA

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

Disorders for ACACA Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
acetyl-coa carboxylase deficiency
  • acetyl-coa carboxylase 1 deficiency
multiple carboxylase deficiency
  • mcd
biotin deficiency
  • b7 deficiency
diabetes mellitus, ketosis-prone
  • diabetes mellitus, insulin-dependent
hepatic coma
  • hepatocerebral intoxication
- elite association - COSMIC cancer census association via MalaCards
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. Acetyl-CoA carboxylase alpha gene and breast cancer susceptibility. (PMID: 15333468) Sinilnikova O.M. … Lenoir G.M. (Carcinogenesis 2004) 3 4 22 46 64
  2. 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 22 46 64
  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. (PMID: 17372234) Sinilnikova O.M. … Kaaks R. (Cancer Epidemiol. Biomarkers Prev. 2007) 3 22 46 64
  4. BRCA1 affects lipid synthesis through its interaction with acetyl-CoA carboxylase. (PMID: 16326698) Moreau K. … Venezia N.D. (J. Biol. Chem. 2006) 3 4 22 64
  5. Asymmetric expression of transcripts derived from the shared promoter between the divergently oriented ACACA and TADA2L genes. (PMID: 15607423) Travers M.T. … Joulin V. (Genomics 2005) 3 4 22 64

Products for ACACA Gene

Sources for ACACA Gene

Content
Loading form....