phosphatidylinositol glycan anchor biosynthesis class P

Summary
Gene Symbol
  • PIGP
Aliases
  • DCRC
  • DSRC
  • phosphatidylinositol-n-acetylglucosaminyltranferase subunit P
Organism
Homo sapiens (human)
External Links
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)
Displaying 1 entry
GO Term Evidence Code PMID
GPI anchor biosynthetic process
GO Hierarchy
GlycoGene Database (GGDB)
GGDB ID
gg217
Gene Symbol
  • PIGP
Disease
Disease Ontology
Displaying entries 11 - 20 of 51 in total
DO ID Disease Name Source
DOID:0060327 omphalocele
DOID:0060469 Miller-Dieker lissencephaly syndrome
DOID:0060807 syndromic X-linked intellectual disability Najm type
DOID:0060857 septooptic dysplasia
DOID:0080283 developmental and epileptic encephalopathy 55
DOID:0080468 developmental and epileptic encephalopathy 1
DOID:0090122 aromatase excess syndrome
DOID:0090130 cortical dysplasia-focal epilepsy syndrome
DOID:0090132 complex cortical dysplasia with other brain malformations 7
DOID:0090137 complex cortical dysplasia with other brain malformations 1
The Human Phenotype Ontology
Displaying entry 71 - 71 of 71 in total
HPO ID HPO Term
HP:0200134 Epileptic encephalopathy
Displaying all 2 entries
Disease ID Disease Name
ORPHA:1934
  • developmental and epileptic encephalopathy
OMIM:617599
  • developmental and epileptic encephalopathy, 55
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: August 19, 2024