• Gene id: 51227

Gene Summary

• Gene Symbol: PIGP   Gene   UCSC   Ensembl
• Aliases: DCRC, DCRC-S, DSCR5, DSRC, EIEE55, PIG-P
• Gene name: phosphatidylinositol glycan anchor biosynthesis class P
• Alternate names: phosphatidylinositol N-acetylglucosaminyltransferase subunit P, Down syndrome critical region gene 5, Down syndrome critical region protein 5, Down syndrome critical region protein C, phosphatidylinositol glycan, class P, phosphatidylinositol-glycan biosynthes,
• Gene location: 21q22.13 (71583988: 70952816)     Exons: 32     NC_000003.12
• Gene summary(Entrez): This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a compone
• OMIM: 605938

Protein Summary

• Protein general information: P57054  
  • Name: Phosphatidylinositol N acetylglucosaminyltransferase subunit P (EC 2.4.1.198) (Down syndrome critical region protein 5) (Down syndrome critical region protein C) (Phosphatidylinositol glycan biosynthesis class P protein) (PIG P)
  • Length: 158  
  • Mass: 18089
  • Tissue specificity: Ubiquitous.
• Sequence:

  MVPRSTSLTLIVFLFHRLSKAPGKMVENSPSPLPERAIYGFVLFLSSQFGFILYLVWAFIPESWLNSLGLTYWPQ
  KYWAVALPVYLLIAIVIGYVLLFGINMMSTSPLDSIHTITDNYAKNQQQKKYQEEAIPALRDISISEVNQMFFLA
  AKELYTKN

• Structural information:
  • Interpro: IPR013717  IPR016542  
  • STRING: ENSP00000420037
• Other Databases: GeneCards:  PIGP  Malacards:  PIGP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006506	GPI anchor biosynthetic process	IMP	biological process
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0017176	phosphatidylinositol N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0017176	phosphatidylinositol N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0017176	phosphatidylinositol N-acetylglucosaminyltransferase activity	IDA	contributes to
GO:0000506	glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0016254	preassembly of GPI anchor in ER membrane	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006506	GPI anchor biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00563	Glycosylphosphatidylinositol

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Early infantile epileptic encephalopathy	KEGG:H00606
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881