Entity Details
| Primary name |
PIGO_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q8TEQ8 |
| EntryName | PIGO_HUMAN |
| FullName | GPI ethanolamine phosphate transferase 3 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 1089 |
| SequenceStatus | complete |
| DateCreated | 2002-08-13 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Endoplasmic reticulum membrane |
Domains
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| Domain | Name | Category | Type |
| IPR002591 | Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase | Family | Family |
| IPR017850 | Alkaline-phosphatase-like, core domain superfamily | Family | Homologous superfamily |
| IPR037675 | GPI ethanolamine phosphate transferase 3, N-terminal | Domain | Domain |
| IPR039524 | GPI ethanolamine phosphate transferase 3 | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 614749 | OMIM | Hyperphosphatasia with mental retardation syndrome 2 (HPMRS2) | An autosomal recessive form of intellectual disability characterized by facial dysmorphism, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
2 interactions