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MGP005568

UniProt Annotations

Entry Information
Gene Namemethylcrotonoyl-CoA carboxylase 1 (alpha)
Protein EntryMCCA_HUMAN
UniProt IDQ96RQ3
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityATP + 3-methylcrotonoyl-CoA + HCO(3)(-) = ADP + phosphate + 3-methylglutaconyl-CoA. {ECO:0000269|PubMed:17360195}.
CofactorName=biotin; Xref=ChEBI:CHEBI:57586; Note=Biotin.;
DiseaseMethylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]: An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3- hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. {ECO:0000269|PubMed:11170888, ECO:0000269|PubMed:11181649, ECO:0000269|PubMed:11406611, ECO:0000269|PubMed:16010683, ECO:0000269|PubMed:17968484, ECO:0000269|PubMed:21071250, ECO:0000269|PubMed:22150417, ECO:0000269|PubMed:22264772, ECO:0000269|PubMed:22642865, ECO:0000269|Ref.6}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionBiotin-attachment subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3- methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism. {ECO:0000269|PubMed:17360195}.
PathwayAmino-acid degradation; L-leucine degradation; (S)-3- hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 2/3.
Sequence CautionSequence=BAD92974.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
SimilarityContains 1 ATP-grasp domain. {ECO:0000255|PROSITE- ProRule:PRU00409}.
SimilarityContains 1 biotin carboxylation domain. {ECO:0000305}.
SimilarityContains 1 biotinyl-binding domain. {ECO:0000255|PROSITE-ProRule:PRU01066, ECO:0000305}.
Subcellular LocationMitochondrion matrix {ECO:0000269|PubMed:16023992}.
SubunitProbably a dodecamer composed of six biotin-containing alpha subunits (MCCC1) and six beta (MCCC2) subunits.
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