MitoProteome Database

MT000004

UniProt Annotations

Entry Information

Gene Name	acetyl-CoA carboxylase alpha
Protein Entry	ACACA_HUMAN
UniProt ID	Q13085
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative promoter usage; Named isoforms=4; Name=1; IsoId=Q13085-1; Sequence=Displayed; Name=2; Synonyms=E5A; IsoId=Q13085-2; Sequence=VSP_026099; Name=3; Synonyms=E5B; IsoId=Q13085-3; Sequence=VSP_026098; Name=4; IsoId=Q13085-4; Sequence=VSP_026100;
Catalytic Activity	ATP + acetyl-CoA + HCO(3)(-) = ADP + phosphate + malonyl-CoA. {ECO:0000269\|PubMed:20952656}.
Catalytic Activity	ATP + biotin-[carboxyl-carrier-protein] + CO(2) = ADP + phosphate + carboxy-biotin-[carboxyl-carrier- protein]. {ECO:0000269\|PubMed:20952656}.
Cofactor	Name=biotin; Xref=ChEBI:CHEBI:57586; Note=Biotin.;
Cofactor	Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Note=Binds 2 manganese ions per subunit.;
Disease	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.
Enzyme Regulation	By phosphorylation (By similarity). Activity is increased by oligomerization. Citrate and MID1IP1 promote oligomerization. {ECO:0000250, ECO:0000269\|PubMed:20952656}.
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. {ECO:0000269\|PubMed:20952656}.
Interaction	O60218:AKR1B10; NbExp=4; IntAct=EBI-717681, EBI-1572139; P38398:BRCA1; NbExp=2; IntAct=EBI-717681, EBI-349905; Q96EB6:SIRT1; NbExp=3; IntAct=EBI-717681, EBI-1802965;
Pathway	Lipid metabolism; malonyl-CoA biosynthesis; malonyl-CoA from acetyl-CoA: step 1/1.
Ptm	Phosphorylation on Ser-1263 is required for interaction with BRCA1. {ECO:0000269\|PubMed:16698035, ECO:0000269\|PubMed:17081983, ECO:0000269\|PubMed:18220336, ECO:0000269\|PubMed:18669648, ECO:0000269\|PubMed:18691976, ECO:0000269\|PubMed:19369195, ECO:0000269\|PubMed:19690332, ECO:0000269\|PubMed:20068231, ECO:0000269\|PubMed:21406692, ECO:0000269\|Ref.7}.
Sequence Caution	Sequence=AAP94120.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Similarity	Contains 1 ATP-grasp domain. {ECO:0000255\|PROSITE- ProRule:PRU00409}.
Similarity	Contains 1 biotin carboxylation domain. {ECO:0000305}.
Similarity	Contains 1 biotinyl-binding domain. {ECO:0000255\|PROSITE-ProRule:PRU01066, ECO:0000305}.
Similarity	Contains 1 carboxyltransferase domain. {ECO:0000305}.
Subcellular Location	Cytoplasm.
Subunit	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. {ECO:0000269\|PubMed:12360400, ECO:0000269\|PubMed:16326698, ECO:0000269\|PubMed:20952656}.
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.
Web Resource	Name=Wikipedia; Note=Acetyl-CoA carboxylase entry; URL="http://en.wikipedia.org/wiki/Acetyl-CoA_carboxylase";