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 1 - 10 of 88 in total
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
Displaying entries 131 - 140 of 168 in total
HPO ID HPO Term
HP:0004818 Paroxysmal nocturnal hemoglobinuria
HP:0004936 Venous thrombosis
HP:0005257 Thoracic hypoplasia
HP:0005280 Depressed nasal bridge
HP:0005484 Secondary microcephaly
HP:0006380 Knee flexion contracture
HP:0006813 Focal hemiclonic seizure
HP:0006895 Lower limb hypertonia
HP:0006956 Lateral ventricle dilatation
HP:0006986 Upper limb spasticity
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