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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Phosphatidylinositol N-acetylglucosaminyltransferase subunit A
Summary
- UniProt ID
- P37287
- Gene Symbol
-
- PIGA
- Organism
- Homo sapiens (human)
External Links
- PubChem
- P37287
- The Human Metabolome Database
- HMDBP00941
Annotation
- Keyword
-
- Alternative splicing
- Disease variant
- Endoplasmic reticulum
- Epilepsy
- GPI-anchor biosynthesis
- Glycoprotein
- Glycosyltransferase
- Intellectual disability
- Lipid metabolism
- Phosphoprotein
- Reference proteome
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| preassembly of GPI anchor in ER membrane |
| GPI anchor biosynthetic process |
| cellular response to leukemia inhibitory factor |
| GO Term |
|---|
| membrane |
| glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex |
| endoplasmic reticulum membrane |
| GO Term |
|---|
| phosphatidylinositol N-acetylglucosaminyltransferase activity |
| UDP-glycosyltransferase activity |
Sequence
MACRGGAGNGHRASATLSRVSPGSLYTCRTRTHNICMVSDFFYPNMGGVESHIYQLSQCLIERGHKVIIVTHAYGNRKGIRYLTSGLKVYYLPLKVMYNQSTATTLFHSLPLLRYIFVRERVTIIHSHSSFSAMAHDALFHAKTMGLQTVFTDHSLFGFADVSSVLTNKLLTVSLCDTNHIICVSYTSKENTVLRAALNPEIVSVIPNAVDPTDFTPDPFRRHDSITIVVVSRLVYRKGIDLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQLHDRVRLLGALEHKDVRNVLVQGHIFLNTSLTEAFCMAIVEAASCGLQVVSTRVGGIPEVLPENLIILCEPSVKSLCEGLEKAIFQLKSGTLPAPENIHNIVKTFYTWRNVAERTEKVYDRVSVEAVLPMDKRLDRLISHCGPVTGYIFALLAVFNFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHSKRGGENNEISETR
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 467 | N-linked (GlcNAc...) asparagine |
|
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Synthesis of glycosylphosphatidylinositol (GPI) | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050453 | lissencephaly | |
| DOID:0050562 | West syndrome | |
| DOID:0050589 | inflammatory bowel disease | |
| DOID:0050709 | early infantile epileptic encephalopathy | |
| DOID:0050841 | focal hand dystonia | |
| DOID:0050908 | myelodysplastic syndrome | |
| DOID:0060248 | Simpson-Golabi-Behmel syndrome type 1 | |
| DOID:0060284 | paroxysmal nocturnal hemoglobinuria | |
| DOID:0060402 | chromosome 17p13.1 deletion syndrome | |
| DOID:0060469 | Miller-Dieker lissencephaly syndrome |
