ACACA

Gene Information
 
Gene Symbol
ACACA
 
Aliases
ACAC, ACACAD, ACC, ACC1, ACCA
 
Entrez Gene ID
31
 
Gene Name
Acetyl-CoA carboxylase alpha
 
Chromosomal Location
17q12
 
HGNC ID
 
Summary
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]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0051289 Biological process Protein homotetramerization ISS 20952656
GO:0003989 Molecular function Acetyl-CoA carboxylase activity ISS 20952656
GO:0005515 Molecular function Protein binding IPI 16326698, 16794074, 18056116, 19343720, 20457939, 20952656
GO:0042802 Molecular function Identical protein binding IPI 20457939
Protein Information
 
Protein Name
Acetyl-CoA carboxylase 1, ACC-alpha, acetyl-Coenzyme A carboxylase alpha
 
Function
Cytosolic enzyme that catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the first and rate-limiting step of de novo fatty acid biosynthesis (PubMed:20952656, PubMed:20457939, PubMed:29899443). This is a 2 steps reaction starting with the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain followed by the transfer of the carboxyl group from carboxylated biotin to acetyl-CoA (PubMed:20952656, PubMed:20457939, PubMed:29899443).
 
Refseq Proteins
 
UniProt
 
PDB
Pathways
 
KEGG
 
Reactome
 

Fatty acid biosynthesis
Pyruvate metabolism
Propanoate metabolism
Metabolic pathways
Fatty acid metabolism
AMPK signaling pathway
Insulin signaling pathway
Glucagon signaling pathway

 

ChREBP activates metabolic gene expression
Biotin transport and metabolism
Carnitine metabolism
Activation of gene expression by SREBF (SREBP)
Defective HLCS causes multiple carboxylase deficiency
Fatty acyl-CoA biosynthesis

Interactions
 
STRING MINT IntAct
ENSP00000357668 O43184 O43184
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Heart Failure
Myocardial Failure
Endocrine System Diseases
PCOS
Neoplasms
Liver Cancer
Nutritional and Metabolic Diseases
Celiac Disease
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
StAR, CYP19A1, 17 B- HSD, ACC-1 and 3 B- HSD demonstrated significant decrease along with increase in CYP11A1, FSH-R, LH-R, SREBP1c, FAS and CPT-1 
PCOS-IR along with hyperandrogenemia 
 
 
Related 
30 controls and 39 PCOS 
Candidate molecules that were differentially expressed, aid in designing targeted therapy against PCOS-IR and PCOS-NIR 

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