MCCC1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | MCCC1 |
| Official Name | methylcrotonoyl-CoA carboxylase 1 [Source:HGNC Symbol;Acc:HGNC:6936] |
| Ensembl ID | ENSG00000078070 |
| Bio databases IDs | |
| Aliases | methylcrotonoyl-CoA carboxylase 1, methylcrotonyl-CoA carboxylase subunit 1, methylcrotonoyl-CoA carboxylase alpha, 3-methylcrotonyl-CoA carboxylase biotin containing subunit |
| Synonyms | 1810045E08Rik, 2310058B18Rik, LOC107986159, MCCA, MCCalpha, MCC-B, MCCCalpha, methylcrotonoyl-Coenzyme A carboxylase 1 (alpha), methylcrotonoyl-Coenzyme A carboxylase 1 (α), methylcrotonyl-CoA carboxylase subunit 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MCCC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATP-grasp domain
- Biotin carboxylase C-terminal domain
- enzyme
- protein binding
- RimK-like ATP-grasp domain
- D-ala D-ala ligase C-terminus
- Biotinyl_lipoyl_domains
- acetyl-CoA carboxylase, biotin carboxylase subunit
- Carbamoyl-phosphate synthase L chain, ATP binding domain
- Biotin carboxylase, N-terminal domain
- Biotin-requiring enzyme
- methylcrotonoyl-CoA carboxylase
- PRK12999
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- 3-methylcrotonylglycinuria
- Parkinson disease
- hepatocellular carcinoma
- liver cancer
- hereditary disorder
- prostate cancer
- bipolar disorder
regulates
- leucine
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- cytosol
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MCCC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- branched chain family amino acid catabolic process
- biotin metabolic process
- leucine catabolic process
Cellular Component
Where in the cell the gene product is active
- 3-methylcrotonyl-CoA carboxylase complex, mitochondrial
- mitochondrial matrix
- mitochondrion
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- metal ion binding
- biotin binding
- biotin carboxylase activity
- methylcrotonoyl-CoA carboxylase activity