phosphatidylinositol glycan anchor biosynthesis class Q

Summary
Gene Symbol
  • PIGQ
Aliases
  • GPI1
  • Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q
  • hGPI1
Organism
Homo sapiens (human)
External Links
NCBI Gene
9091
GGDB ID
HGNC
14135
mRNA
map
  • 16p13.3
Protein
OMIM
KEGG Gene ID
hsa:9091
PubChem
9091
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Direct protein sequencing
  • Disease variant
  • Epilepsy
  • GPI-anchor biosynthesis
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
B2RAU6
Q9BRB3
  • N-acetylglucosamyl transferase component GPI1
  • Phosphatidylinositol-glycan biosynthesis class Q protein
Gene Ontology (GO)
Displaying all 2 entries
GO Term Evidence Code PMID
carbohydrate metabolic process
GPI anchor biosynthetic process
GO Hierarchy
Displaying 1 entry
GO Term Evidence Code PMID
protein binding
GlycoGene Database (GGDB)
GGDB ID
gg213
Gene Symbol
  • PIGQ
Disease
Disease Ontology
Displaying entries 1 - 10 of 78 in total
DO ID Disease Name Source
DOID:0050453 lissencephaly
DOID:0050562 West syndrome
DOID:0050709 early infantile epileptic encephalopathy
DOID:0050777 Joubert syndrome
DOID:0050841 focal hand dystonia
DOID:0060260 ptosis
DOID:0060261 congenital ptosis
DOID:0060270 pontocerebellar hypoplasia type 2D
DOID:0060276 pontocerebellar hypoplasia type 7
DOID:0060277 pontocerebellar hypoplasia type 8
The Human Phenotype Ontology
Displaying entries 1 - 10 of 84 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000023 Inguinal hernia
HP:0000054 Micropenis
HP:0000070 Ureterocele
HP:0000076 Vesicoureteral reflux
HP:0000110 Renal dysplasia
HP:0000175 Cleft palate
HP:0000219 Thin upper lip vermilion
HP:0000252 Microcephaly
HP:0000260 Wide anterior fontanel
Displaying all 2 entries
Disease ID Disease Name
ORPHA:1934
  • developmental and epileptic encephalopathy
OMIM:618548
  • developmental and epileptic encephalopathy, 77
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP001145
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class Q

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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