Entity Details
| Primary name |
MCCA_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q96RQ3 |
| EntryName | MCCA_HUMAN |
| FullName | Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 725 |
| SequenceStatus | complete |
| DateCreated | 2002-03-05 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Mitochondrion matrix |
Domains
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| Domain | Name | Category | Type |
| IPR000089 | Biotin/lipoyl attachment | Domain | Domain |
| IPR001882 | Biotin-binding site | Site | Binding site |
| IPR005479 | Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain | Domain | Domain |
| IPR005481 | Biotin carboxylase-like, N-terminal domain | Domain | Domain |
| IPR005482 | Biotin carboxylase, C-terminal | Domain | Domain |
| IPR011053 | Single hybrid motif | Family | Homologous superfamily |
| IPR011054 | Rudiment single hybrid motif | Family | Homologous superfamily |
| IPR011761 | ATP-grasp fold | Domain | Domain |
| IPR011764 | Biotin carboxylation domain | Domain | Domain |
| IPR013815 | ATP-grasp fold, subdomain 1 | Family | Homologous superfamily |
| IPR016185 | Pre-ATP-grasp domain superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 210200 | OMIM | 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) | 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. The disease is caused by variants affecting the gene represented in this entry. |
Drugs
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| Drug | Name | Source | Type |
| DB00121 | Biotin | Drugbank | small molecule |
Interactions
3 interactions