phosphatidylinositol glycan anchor biosynthesis class Y

Summary
Gene Symbol
  • PIGY
Aliases
  • MGC14156
  • PIG-Y
  • Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y
Organism
Homo sapiens (human)
External Links
NCBI Gene
84992
GGDB ID
HGNC
28213
mRNA
map
  • 4q22.1
Protein
OMIM
KEGG Gene ID
hsa:84992
PubChem
84992
Alliance of Genome Resources
Annotation
Keyword
  • Direct protein sequencing
  • Disease variant
  • Endoplasmic reticulum
  • GPI-anchor biosynthesis
  • Intellectual disability
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q3MUY2
  • Phosphatidylinositol-glycan biosynthesis class Y protein
Gene Ontology (GO)
Displaying 1 entry
GO Term Evidence Code PMID
GPI anchor biosynthetic process
GO Hierarchy
GlycoGene Database (GGDB)
GGDB ID
gg218
Gene Symbol
  • PIGY
KEGG BRITE Database
Orthology
K11001
Name
phosphatidylinositol N-acetylglucosaminyltransferase subunit Y
References
Disease
Disease Ontology
Displaying entries 31 - 32 of 32 in total
DO ID Disease Name Source
DOID:9837 hypertropia
DOID:9840 esotropia
The Human Phenotype Ontology
Displaying entries 1 - 10 of 95 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000023 Inguinal hernia
HP:0000126 Hydronephrosis
HP:0000193 Bifid uvula
HP:0000218 High palate
HP:0000248 Brachycephaly
HP:0000280 Coarse facial features
HP:0000286 Epicanthus
HP:0000289 Broad philtrum
HP:0000303 Mandibular prognathia
Displaying all 2 entries
Disease ID Disease Name
OMIM:616809
  • hyperphosphatasia with intellectual disability syndrome 6
ORPHA:247262
  • hyperphosphatasia-intellectual disability syndrome
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP006783
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class Y

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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