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 21 - 30 of 51 in total
DO ID Disease Name Source
DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly
DOID:0110213 isolated cleft palate
DOID:10283 prostate cancer
DOID:10286 prostate carcinoma
DOID:1059 intellectual disability
DOID:10907 microcephaly
DOID:11832 visual epilepsy
DOID:13515 tuberous sclerosis
DOID:14250 Down syndrome
DOID:14323 Marfan syndrome
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
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