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MIRAGE
phosphatidylinositol glycan anchor biosynthesis class Y
Summary
- Gene Symbol
-
- PIGY
- Aliases
-
- MGC14156
- PIG-Y
- Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Direct protein sequencing
- Disease variant
- Endoplasmic reticulum
- GPI-anchor biosynthesis
- Intellectual disability
- Reference proteome
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q3MUY2 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| GPI anchor biosynthetic process | ||
| GPI anchor biosynthetic process | ||
| GPI anchor biosynthetic process |
GO Hierarchy
biological process
metabolic process [inference]
cellular process [inference]
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| phosphatidylinositol N-acetylglucosaminyltransferase activity |
GO Hierarchy
GlycoGene Database (GGDB)
- GGDB ID
- gg218
- Gene Symbol
-
- PIGY
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070437 | hyperphosphatasia with impaired intellectual development syndrome 6 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000463 | Anteverted nares |
| HP:0000470 | Short neck |
| HP:0000490 | Deeply set eye |
| HP:0000505 | Visual impairment |
| HP:0000519 | Developmental cataract |
| HP:0000540 | Hypermetropia |
| HP:0000565 | Esotropia |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000594 | Shallow anterior chamber |
| HP:0000637 | Long palpebral fissure |
| Disease ID | Disease Name |
|---|---|
| ORPHA:247262 |
|
| OMIM:616809 |
|
PubChem Disease
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP006783
- Gene Name
- phosphatidylinositol glycan anchor biosynthesis, class Y
