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