Entity Details
| Primary name |
MOCS1_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9NZB8 |
| EntryName | MOCS1_HUMAN |
| FullName | Molybdenum cofactor biosynthesis protein 1 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 636 |
| SequenceStatus | complete |
| DateCreated | 2003-05-09 |
| DateModified | 2021-06-02 |
Subcellular Location
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Domains
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| Domain | Name | Category | Type |
| IPR000385 | MoaA/NifB/PqqE, iron-sulphur binding, conserved site | Site | Conserved site |
| IPR002820 | Molybdopterin cofactor biosynthesis C (MoaC) domain | Domain | Domain |
| IPR006638 | Elp3/MiaB/NifB | Domain | Domain |
| IPR007197 | Radical SAM | Domain | Domain |
| IPR010505 | Molybdenum cofactor synthesis C-terminal | Domain | Domain |
| IPR013483 | Molybdenum cofactor biosynthesis protein A | Family | Family |
| IPR013785 | Aldolase-type TIM barrel | Family | Homologous superfamily |
| IPR023045 | Molybdenum cofactor biosynthesis C | Family | Family |
| IPR036522 | Molybdopterin cofactor biosynthesis C (MoaC) domain superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 252150 | OMIM | Molybdenum cofactor deficiency, complementation group A (MOCODA) | An autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
2 interactions