phosphatidylinositol glycan anchor biosynthesis class P

Summary
Gene Symbol
  • PIGP
Aliases
  • DCRC
  • DSRC
  • phosphatidylinositol-n-acetylglucosaminyltranferase subunit P
Organism
Homo sapiens (human)
NCBI Gene
51227
GGDB ID
HGNC
3046
mRNA
map
  • 21q22.2, 21q22.13 (OMIM)
Protein
OMIM
KEGG Gene ID
hsa:51227
PubChem
51227
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Direct protein sequencing
  • Disease variant
  • Epilepsy
  • GPI-anchor biosynthesis
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
P57054
  • Down syndrome critical region protein 5
  • Down syndrome critical region protein C
  • Phosphatidylinositol-glycan biosynthesis class P protein
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
PIG-P
Functional Category
  • G: Carbohydrate transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Displaying 1 entry
InterPro
PIG-P
GlycoGene Database (GGDB)
GGDB ID
gg217
Gene Symbol
  • PIGP
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0080283 developmental and epileptic encephalopathy 55
The Human Phenotype Ontology
Displaying entries 1 - 10 of 71 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000054 Micropenis
HP:0000070 Ureterocele
HP:0000110 Renal dysplasia
HP:0000175 Cleft palate
HP:0000252 Microcephaly
HP:0000340 Sloping forehead
HP:0000463 Anteverted nares
HP:0000486 Strabismus
HP:0000729 Autistic behavior
Displaying all 2 entries
Disease ID Disease Name
OMIM:617599
  • developmental and epileptic encephalopathy, 55
ORPHA:1934
  • developmental and epileptic encephalopathy
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000186
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class P

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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: April 7, 2025