Entity Details
| Primary name |
PIGN_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | O95427 |
| EntryName | PIGN_HUMAN |
| FullName | GPI ethanolamine phosphate transferase 1 |
| TaxID | 9606 |
| Evidence | evidence at transcript level |
| Length | 931 |
| 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 |
| IPR002591 | Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase | Family | Family |
| IPR007070 | GPI ethanolamine phosphate transferase 1 | Family | Family |
| IPR017850 | Alkaline-phosphatase-like, core domain superfamily | Family | Homologous superfamily |
| IPR017852 | GPI ethanolamine phosphate transferase 1, C-terminal | Domain | Domain |
| IPR037671 | GPI ethanolamine phosphate transferase 1, N-terminal | Domain | Domain |
Diseases
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| Disease ID | Source | Name | Description |
| 614080 | OMIM | Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) | An autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction