• Gene id: 5283

Gene Summary

• Gene Symbol: PIGH   Gene   UCSC   Ensembl
• Aliases: GPI-H
• Gene name: phosphatidylinositol glycan anchor biosynthesis class H
• Alternate names: phosphatidylinositol N-acetylglucosaminyltransferase subunit H, phosphatidylinositol-glycan biosynthesis, class H protein,
• Gene location: 14q24.1 (66696742: 66598177)     Exons: 7     NC_000016.10
• Gene summary(Entrez): This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The
• OMIM: 600154

Protein Summary

• Protein general information: Q14442  
  • Name: Phosphatidylinositol N acetylglucosaminyltransferase subunit H (EC 2.4.1.198) (Phosphatidylinositol glycan biosynthesis class H protein) (PIG H)
  • Length: 188  
  • Mass: 21081
• Sequence:

  MEDERSFSDICGGRLALQRRYYSPSCREFCLSCPRLSLRSLTAVTCTVWLAAYGLFTLCENSMILSAAIFITLLG
  LLGYLHFVKIDQETLLIIDSLGIQMTSSYASGKESTTFIEMGKVKDIVINEAIYMQKVIYYLCILLKDPVEPHGI
  SQVVPVFQSAKPRLDCLIEVYRSCQEILAHQKATSTSP

• Structural information:
  • Interpro: IPR019328  
  • STRING: ENSP00000216452
• Other Databases: GeneCards:  PIGH  Malacards:  PIGH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006506	GPI anchor biosynthetic process	IBA	biological process
GO:0000506	glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IBA	cellular component
GO:0017176	phosphatidylinositol N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003824	catalytic activity	TAS	molecular function
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0006464	cellular protein modification process	TAS	biological process
GO:0006506	GPI anchor biosynthetic process	TAS	biological process
GO:0017176	phosphatidylinositol N-acetylglucosaminyltransferase activity	IEA	molecular function
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:0005737	cytoplasm	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
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