phosphatidylinositol glycan anchor biosynthesis class Q

Summary
Gene Symbol
  • PIGQ
Aliases
  • GPI1
  • Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q
  • hGPI1
Organism
Homo sapiens (human)
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)
GO Hierarchy
Displaying 1 entry
GO Term Evidence Code PMID
protein binding
OrthoDB (Group)
Group level
Eukaryota
Group Name
DNA mismatch repair protein
Functional Category
  • K: Transcription
  • L: Replication, recombination and repair
  • V: Defense mechanisms
Displaying all 2 entries
Gene Ontology
ATP binding
ATP-dependent DNA damage sensor activity
GlycoGene Database (GGDB)
GGDB ID
gg213
Gene Symbol
  • PIGQ
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0112213 multiple congenital anomalies-hypotonia-seizures syndrome 4
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
OMIM:618548
  • developmental and epileptic encephalopathy, 77
ORPHA:1934
  • developmental and epileptic encephalopathy
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: December 8, 2025