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)
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
OrthoDB (Group)
Group level
Eukaryota
Group Name
phosphatidylinositol
Functional Category
  • E: Amino acid transport and metabolism
  • M: Cell wall/membrane/envelope biogenesis
  • T: Signal transduction mechanisms
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 all 3 entries
DO ID Disease Name Source
DOID:0060284 paroxysmal nocturnal hemoglobinuria
DOID:0060713 autosomal recessive congenital ichthyosis 4B
DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 168 in total
HPO ID HPO Term
HP:0000054 Micropenis
HP:0000076 Vesicoureteral reflux
HP:0000081 Duplicated collecting system
HP:0000083 Renal insufficiency
HP:0000093 Proteinuria
HP:0000160 Narrow mouth
HP:0000201 Pierre-Robin sequence
HP:0000207 Triangular mouth
HP:0000212 Gingival overgrowth
HP:0000218 High palate
Displaying all 6 entries
Disease ID Disease Name
ORPHA:293181
  • malignant migrating partial seizures of infancy
OMIM:301072
  • ferro-cerebro-cutaneous syndrome
OMIM:300868
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
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: December 9, 2024