Entity Details
| Primary name |
PIGM_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9H3S5 |
| EntryName | PIGM_HUMAN |
| FullName | GPI mannosyltransferase 1 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 423 |
| SequenceStatus | complete |
| DateCreated | 2006-07-25 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Endoplasmic reticulum membrane |
Domains
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| Domain | Name | Category | Type |
| IPR007704 | GPI mannosyltransferase 1 | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 610293 | OMIM | Glycosylphosphatidylinositol biosynthesis defect 1 (GPIBD1) | An autosomal recessive disorder characterized by portal vein thrombosis and portal hypertension, absence seizures, macrocephaly, splenomegaly, cytopenias and early-onset cerebral infarctions. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
3 interactions