phosphatidylinositol glycan anchor biosynthesis class O

Summary
Gene Symbol
  • PIGO
Aliases
  • DKFZp434M222
  • FLJ00135
  • PIG-O
Organism
Homo sapiens (human)
NCBI Gene
84720
GGDB ID
HGNC
23215
mRNA
map
  • 9p13.3, 9p13.2 (HGNC)
Protein
OMIM
KEGG Gene ID
hsa:84720
PubChem
84720
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Disease variant
  • Endoplasmic reticulum
  • GPI-anchor biosynthesis
  • Glycoprotein
  • Intellectual disability
  • Reference proteome
  • Transferase
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q8TEQ8
  • Phosphatidylinositol-glycan biosynthesis class O protein
Gene Ontology (GO)
Displaying 1 entry
GO Term Evidence Code PMID
GPI anchor biosynthetic process
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Gpi ethanolamine phosphate transferase
Functional Category
  • G: Carbohydrate transport and metabolism
  • M: Cell wall/membrane/envelope biogenesis
  • Q: Secondary metabolites biosynthesis, transport and catabolism
GlycoGene Database (GGDB)
GGDB ID
gg227
Gene Symbol
  • PIGO
KEGG BRITE Database
Orthology
K05288
Name
GPI ethanolamine phosphate transferase 3 subunit O [EC:2.7.-.-]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R08107
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2
The Human Phenotype Ontology
Displaying entries 11 - 20 of 78 in total
HPO ID HPO Term
HP:0000289 Broad philtrum
HP:0000303 Mandibular prognathia
HP:0000311 Round face
HP:0000316 Hypertelorism
HP:0000322 Short philtrum
HP:0000347 Micrognathia
HP:0000365 Hearing impairment
HP:0000378 Cupped ear
HP:0000391 Thickened helices
HP:0000414 Bulbous nose
Displaying all 2 entries
Disease ID Disease Name
OMIM:614749
  • hyperphosphatasia with intellectual disability syndrome 2
ORPHA:247262
  • hyperphosphatasia-intellectual disability syndrome
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP001314
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class O

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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