ACACA phospho S79

Consists of an N-terminal biotin carboxylation/carboxylase (BC) domain that catalyzes the ATP-dependent transient carboxylation of the biotin covalently attached to the central biotinyl-binding/biotin carboxyl carrier (BCC) domain (Probable). The C-terminal carboxyl transferase (CT) domain catalyzes the transfer of the carboxyl group from carboxylated biotin to acetyl-CoA to produce malonyl-CoA (Probable).

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:20457939, PubMed:20952656, 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:20457939, PubMed:20952656, PubMed:29899443).

Acetyl-CoA carboxylase-alpha deficiency

ACACAD

An autosomal recessive inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth.

None

The disease is caused by variants affecting the gene represented in this entry.

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

Phosphorylation on Ser-1263 is required for interaction with BRCA1.

Phosphorylation at Ser-80 by AMPK inactivates enzyme activity.

The biotin cofactor is covalently attached to the central biotinyl-binding domain and is required for the catalytic activity.

Expressed in brain, placenta, skeletal muscle, renal, pancreatic and adipose tissues; expressed at low level in pulmonary tissue; not detected in the liver.

• Cytoplasm
• Cytosol

ACAC, ACC1, ACCA, ACACA, Acetyl-CoA carboxylase 1, Acetyl-Coenzyme A carboxylase alpha, ACC-alpha

• swissprot:Q13085

Proteins

Metabolism

265554Da