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)
External Links
NCBI Gene
5277
GGDB ID
HGNC
8957
mRNA
map
  • Xp22.1, Xp22.2 (OMIM)
Protein
OMIM
KEGG Gene ID
hsa:5277
PubChem
5277
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Disease variant
  • Endoplasmic reticulum
  • Epilepsy
  • GPI-anchor biosynthesis
  • Glycoprotein
  • Glycosyltransferase
  • Intellectual disability
  • Lipid metabolism
  • Phosphoprotein
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
P37287
  • GlcNAc-PI synthesis protein
  • Phosphatidylinositol-glycan biosynthesis class A protein
A0A2K4ZA02
  • GlcNAc-PI synthesis protein
Gene Ontology (GO)
GO Hierarchy
GlycoGene Database (GGDB)
GGDB ID
gg215
Gene Symbol
  • PIGA
KEGG BRITE Database
Orthology
K03857
Name
phosphatidylinositol N-acetylglucosaminyltransferase subunit A [EC:2.4.1.198]
References
Disease
Disease Ontology
Displaying entries 41 - 50 of 88 in total
DO ID Disease Name Source
DOID:13620 patent foramen ovale
DOID:13976 peptic esophagitis
DOID:14323 Marfan syndrome
DOID:14557 primary pulmonary hypertension
DOID:162 cancer
DOID:1699 obsolete congenital ichthyosiform erythroderma
DOID:1826 epilepsy
DOID:1882 atrial heart septal defect
DOID:216 dental caries
DOID:2224 essential thrombocythemia
The Human Phenotype Ontology
Displaying entries 161 - 168 of 168 in total
HPO ID HPO Term
HP:0012622 Chronic kidney disease
HP:0012675 Iron accumulation in brain
HP:0012758 Neurodevelopmental delay
HP:0100543 Cognitive impairment
HP:0100704 Cerebral visual impairment
HP:0100749 Chest pain
HP:0200034 Papule
HP:0200134 Epileptic encephalopathy
Displaying all 6 entries
Disease ID Disease Name
ORPHA:293181
  • malignant migrating partial seizures of infancy
OMIM:300868
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
OMIM:301072
  • ferro-cerebro-cutaneous syndrome
OMIM:300818
  • paroxysmal nocturnal hemoglobinuria 1
ORPHA:447
  • paroxysmal nocturnal hemoglobinuria
ORPHA:3451
  • West syndrome
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP001689
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class A

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024