Entity Details
| Primary name |
SUMF1_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q8NBK3 |
| EntryName | SUMF1_HUMAN |
| FullName | Formylglycine-generating enzyme |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 374 |
| SequenceStatus | complete |
| DateCreated | 2003-07-25 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Endoplasmic reticulum lumen |
Domains
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| Domain | Name | Category | Type |
| IPR005532 | Sulfatase-modifying factor enzyme | Domain | Domain |
| IPR016187 | C-type lectin fold | Family | Homologous superfamily |
| IPR042095 | Sulfatase-modifying factor enzyme superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 272200 | OMIM | Multiple sulfatase deficiency (MSD) | A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. The disease is caused by variants affecting the gene represented in this entry. SUMF1 mutations result in defective post-translational modification of sulfatases. |
Interactions
0 interactions
| Interactor | Partner | Sources | Publications | Link |