Description: Homo sapiens methylcrotonoyl-CoA carboxylase 1 (alpha) (MCCC1), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_020166): This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr3:182,733,006-182,817,365 Size: 84,360 Total Exon Count: 17 Strand: - Coding Region Position: hg19 chr3:182,733,226-182,812,390 Size: 79,165 Coding Exon Count: 16
ID:MCCA_HUMAN DESCRIPTION: RecName: Full=Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial; Short=MCCase subunit alpha; EC=6.4.1.4; AltName: Full=3-methylcrotonyl-CoA carboxylase 1; AltName: Full=3-methylcrotonyl-CoA carboxylase biotin-containing subunit; AltName: Full=3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha; Flags: Precursor; CATALYTIC ACTIVITY: ATP + 3-methylcrotonoyl-CoA + HCO(3)(-) = ADP + phosphate + 3-methylglutaconyl-CoA. COFACTOR: Biotin. PATHWAY: Amino-acid degradation; L-leucine degradation; (S)-3- hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 2/3. SUBUNIT: Probably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits. SUBCELLULAR LOCATION: Mitochondrion matrix. DISEASE: Defects in MCCC1 are the cause of methylcrotonoyl-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. SIMILARITY: Contains 1 ATP-grasp domain. SIMILARITY: Contains 1 biotin carboxylation domain. SIMILARITY: Contains 1 biotinyl-binding domain. SEQUENCE CAUTION: Sequence=BAD92974.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MCCC1";
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): MCCC1 CDC HuGE Published Literature: MCCC1 Positive Disease Associations: Parkinson Disease Related Studies:
Parkinson Disease Michael A Nalls et al. Lancet 2011, Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies., Lancet.
[PubMed 21292315]
These data provide an insight into the genetics of Parkinsons disease and the molecular cause of the disease and could provide future targets for therapies.
Parkinson Disease Chuong B Do et al. PLoS genetics 2011, Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease., PLoS genetics.
[PubMed 21738487]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96RQ3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
