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Standards Ontologies Notations
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
Annotation information from UniProt.
Gene Ontology (GO)
Displaying 1 entry
GO Term Evidence Code PMID
GPI anchor biosynthetic process
GO Hierarchy
Gene Ontology information from NCBI Gene and UniProt.
GlycoGene Database (GGDB)
GGDB ID
gg217
Gene Symbol
  • PIGP
Disease
Disease Ontology
Displaying entries 1 - 10 of 51 in total
DO ID Disease Name Source
DOID:0050453 lissencephaly
DOID:0050562 West syndrome
DOID:0050709 early infantile epileptic encephalopathy
DOID:0050777 Joubert syndrome
DOID:0050841 focal hand dystonia
DOID:0060270 pontocerebellar hypoplasia type 2D
DOID:0060276 pontocerebellar hypoplasia type 7
DOID:0060277 pontocerebellar hypoplasia type 8
DOID:0060278 pontocerebellar hypoplasia type 9
DOID:0060321 umbilical hernia
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
PubChem Disease
MedGen Diseases
OMIM Phenotypes
KEGG Diseases
Gene-Disease-Co-Occurrences-in-Literature (PubChem)
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000186
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class P
Ortholog
Displaying entries 1 - 10 of 71 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
36805057 WB:WBGene00303002
43168 FB:FBgn0039405
103171880 CALMI46258
102345315 LATCH11850
325316 ZFIN:ZDB-GENE-030131-4041 DANRE00893
103021711 ASTMX03735
108276905 ICTPU09004
113581656 ELEEL27893
105023992 ESOLU21302
100196862 SALSA27404
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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