phosphatidylinositol glycan anchor biosynthesis class W

Summary
Gene Symbol
  • PIGW
Aliases
  • FLJ37433
  • GPI-anchored wall protein transfer 1 homolog (S. cerevisiae)
  • Gwt1
  • PIG-W
Organism
Homo sapiens (human)
External Links
NCBI Gene
284098
GGDB ID
HGNC
23213
mRNA
map
  • 17q12, 17q21.1 (HGNC)
Protein
OMIM
KEGG Gene ID
hsa:284098
PubChem
284098
Alliance of Genome Resources
Annotation
Keyword
  • Acyltransferase
  • Disease variant
  • Endoplasmic reticulum
  • GPI-anchor biosynthesis
  • Glycoprotein
  • Intellectual disability
  • Phosphoprotein
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q7Z7B1
Gene Ontology (GO)
GO Hierarchy
GlycoGene Database (GGDB)
GGDB ID
gg220
Gene Symbol
  • PIGW
KEGG BRITE Database
Orthology
K05283
Name
glucosaminylphosphatidylinositol acyltransferase [EC:2.3.-.-]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R05918
Disease
Disease Ontology
Displaying entries 1 - 10 of 31 in total
DO ID Disease Name Source
DOID:0050562 West syndrome
DOID:0050635 alternating hemiplegia of childhood
DOID:0050841 focal hand dystonia
DOID:0060216 Cogan syndrome
DOID:0060249 scoliosis
DOID:0060823 syndromic X-linked intellectual disability 94
DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5
DOID:10293 monocular esotropia
DOID:10487 Hirschsprung's disease
DOID:1059 intellectual disability
The Human Phenotype Ontology
Displaying entries 1 - 10 of 70 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000023 Inguinal hernia
HP:0000126 Hydronephrosis
HP:0000158 Macroglossia
HP:0000193 Bifid uvula
HP:0000218 High palate
HP:0000248 Brachycephaly
HP:0000280 Coarse facial features
HP:0000286 Epicanthus
HP:0000289 Broad philtrum
Displaying all 2 entries
Disease ID Disease Name
OMIM:616025
  • hyperphosphatasia with intellectual disability syndrome 5
ORPHA:247262
  • hyperphosphatasia-intellectual disability syndrome
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002101
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class W

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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