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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:0060713 | autosomal recessive congenital ichthyosis 4B | |
| DOID:0080139 | multiple congenital anomalies-hypotonia-seizures syndrome 2 | |
| DOID:0080301 | atypical hemolytic-uremic syndrome | |
| DOID:0080342 | Simpson-Golabi-Behmel syndrome type 2 | |
| DOID:0080440 | developmental and epileptic encephalopathy 3 | |
| DOID:0110106 | atrial heart septal defect 1 | |
| DOID:0110107 | atrial heart septal defect 2 | |
| DOID:0110108 | atrial heart septal defect 3 | |
| DOID:0110109 | atrial heart septal defect 4 | |
| DOID:0110110 | atrial heart septal defect 5 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007190 | Neuronal loss in the cerebral cortex |
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset |
| HP:0007361 | Abnormal pons morphology |
| HP:0008064 | Ichthyosis |
| HP:0008282 | Unconjugated hyperbilirubinemia |
| HP:0008936 | Axial hypotonia |
| HP:0009085 | Alveolar ridge overgrowth |
| HP:0010821 | Focal emotional seizure with laughing |
| HP:0010841 | Multifocal epileptiform discharges |
| HP:0011097 | Epileptic spasm |
| 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 |
|---|---|---|---|
| 110222452 | PHACI25601 | ||
| 101043253 | SAIBB01146 | ||
| 101961654 | ICTTR09271 | ||
| 101596583 | JACJA23578 | ||
| 102421864 | MYOLU04944 | ||
| 117026673 | RHIFE18190 | ||
| 100224156 | TAEGU11257 | ||
| 101811493 | FICAL03885 | ||
| 103231634 | CHLSB18295 | ||
| 104664533 | RHIRO39669 |
