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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
phosphatidylinositol glycan anchor biosynthesis class A
Summary
- Gene Symbol
-
- PIGA
- Aliases
-
- GPI3
- GPI3 (SPT14) homolog (S. cerevisiae)
- PIG-A
- Phosphatidylinositol N-acetylglucosaminyltransferase subunit A
- paroxysmal nocturnal hemoglobinuria
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Disease variant
- Endoplasmic reticulum
- Epilepsy
- GPI-anchor biosynthesis
- Glycoprotein
- Glycosyltransferase
- Intellectual disability
- Lipid metabolism
- Phosphoprotein
- Reference proteome
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| P37287 |
|
| A0A2K4ZA02 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| GPI anchor biosynthetic process | ||
| preassembly of GPI anchor in ER membrane | ||
| cellular response to leukemia inhibitory factor |
GO Hierarchy
biological process
metabolic process [inference]
cellular process [inference]
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| phosphatidylinositol N-acetylglucosaminyltransferase activity | ||
| UDP-glycosyltransferase activity | ||
| protein binding |
GO Hierarchy
GlycoGene Database (GGDB)
- GGDB ID
- gg215
- Gene Symbol
-
- PIGA
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| 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 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002639 | Budd-Chiari syndrome |
| HP:0002650 | Scoliosis |
| HP:0002714 | Downturned corners of mouth |
| HP:0002878 | Respiratory failure |
| HP:0002987 | Elbow flexion contracture |
| HP:0003076 | Glycosuria |
| HP:0003121 | Limb joint contracture |
| HP:0003138 | Increased blood urea nitrogen |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0003202 | Skeletal muscle atrophy |
| Disease ID | Disease Name |
|---|---|
| ORPHA:293181 |
|
| OMIM:300868 |
|
| OMIM:301072 |
|
| OMIM:300818 |
|
| ORPHA:447 |
|
| ORPHA:3451 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP001689
- Gene Name
- phosphatidylinositol glycan anchor biosynthesis, class A
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 100600234 | NOMLE39064 | ||
| 107555234 | SINGR77488 | ||
| 107600385 | SINGR40666 | ||
| 106841579 | EQUAS27507 | ||
| 116820947 | CHEAB28057 | ||
| 105293997 | PTEVA12981 | ||
| 115403658 | SALFA51573 | ||
| 115403813 | SALFA50512 | ||
| 115403817 | SALFA50593 | ||
| 113481627 | ATHCN02736 |
