Entity Details
| Primary name |
PIGH_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q14442 |
| EntryName | PIGH_HUMAN |
| FullName | Phosphatidylinositol N-acetylglucosaminyltransferase subunit H |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 188 |
| SequenceStatus | complete |
| DateCreated | 2002-12-13 |
| DateModified | 2021-06-02 |
GO terms
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| GO | Name |
| GO:0000506 | glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex |
| GO:0003824 | catalytic activity |
| GO:0005783 | endoplasmic reticulum |
| GO:0005789 | endoplasmic reticulum membrane |
| GO:0006464 | cellular protein modification process |
| GO:0006506 | GPI anchor biosynthetic process |
| GO:0016254 | preassembly of GPI anchor in ER membrane |
| GO:0017176 | phosphatidylinositol N-acetylglucosaminyltransferase activity |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
Domains
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| Domain | Name | Category | Type |
| IPR019328 | GPI-GlcNAc transferase complex, PIG-H component, conserved domain | Domain | Domain |
| IPR044215 | Phosphatidylinositol N-acetylglucosaminyltransferase subunit H | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 618010 | OMIM | Glycosylphosphatidylinositol biosynthesis defect 17 (GPIBD17) | An autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Clinical features include learning disabilities, mild-to-moderate developmental delay, seizures of variable severity, aggressive or over-friendly behavior, and autistic features. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
3 interactions