• Gene id: 84720

Gene Summary

• Gene Symbol: PIGO   Gene   UCSC   Ensembl
• Aliases: HPMRS2
• Gene name: phosphatidylinositol glycan anchor biosynthesis class O
• Alternate names: GPI ethanolamine phosphate transferase 3, phosphatidylinositol-glycan biosynthesis class O protein,
• Gene location: 9p13.3 (17439676: 17406759)     Exons: 13     NC_000001.11
• Gene summary(Entrez): This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to a
• OMIM: 614730

Protein Summary

• Protein general information: Q8TEQ8  
  • Name: GPI ethanolamine phosphate transferase 3 (EC 2. . . ) (Phosphatidylinositol glycan biosynthesis class O protein) (PIG O)
  • Length: 1089  
  • Mass: 118699
• Sequence:

  MQKASVLLFLAWVCFLFYAGIALFTSGFLLTRLELTNHSSCQEPPGPGSLPWGSQGKPGACWMASRFSRVVLVLI
  DALRFDFAQPQHSHVPREPPVSLPFLGKLSSLQRILEIQPHHARLYRSQVDPPTTTMQRLKALTTGSLPTFIDAG
  SNFASHAIVEDNLIKQLTSAGRRVVFMGDDTWKDLFPGAFSKAFFFPSFNVRDLDTVDNGILEHLYPTMDSGEWD
  VLIAHFLGVDHCGHKHGPHHPEMAKKLSQMDQVIQGLVERLENDTLLVVAGDHGMTTNGDHGGDSELEVSAALFL
  YSPTAVFPSTPPEEPEVIPQVSLVPTLALLLGLPIPFGNIGEVMAELFSGGEDSQPHSSALAQASALHLNAQQVS
  RFLHTYSAATQDLQAKELHQLQNLFSKASADYQWLLQSPKGAEATLPTVIAELQQFLRGARAMCIESWARFSLVR
  MAGGTALLAASCFICLLASQWAISPGFPFCPLLLTPVAWGLVGAIAYAGLLGTIELKLDLVLLGAVAAVSSFLPF
  LWKAWAGWGSKRPLATLFPIPGPVLLLLLFRLAVFFSDSFVVAEARATPFLLGSFILLLVVQLHWEGQLLPPKLL
  TMPRLGTSATTNPPRHNGAYALRLGIGLLLCTRLAGLFHRCPEETPVCHSSPWLSPLASMVGGRAKNLWYGACVA
  ALVALLAAVRLWLRRYGNLKSPEPPMLFVRWGLPLMALGTAAYWALASGADEAPPRLRVLVSGASMVLPRAVAGL
  AASGLALLLWKPVTVLVKAGAGAPRTRTVLTPFSGPPTSQADLDYVVPQIYRHMQEEFRGRLERTKSQGPLTVAA
  YQLGSVYSAAMVTALTLLAFPLLLLHAERISLVFLLLFLQSFLLLHLLAAGIPVTTPGPFTVPWQAVSAWALMAT
  QTFYSTGHQPVFPAIHWHAAFVGFPEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCESQGLRKRQQP
  PGNEADARVRPEEEEEPLMEMRLRDAPQHFYAALLQLGLKYLFILGIQILACALAASILRRHLMVWKVFAPKFIF
  EAVGFIVSSVGLLLGIALVMRVDGAVSSWFRQLFLAQQR

• Structural information:
  • Interpro: IPR017850  IPR002591  IPR037675  IPR039524  
  • CDD: cd16023
  • STRING: ENSP00000367880
• Other Databases: GeneCards:  PIGO  Malacards:  PIGO

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0006506	GPI anchor biosynthetic process	IBA	biological process
GO:0051377	mannose-ethanolamine phosphotransferase activity	IBA	molecular function
GO:0051377	mannose-ethanolamine phosphotransferase activity	IMP	molecular function
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0016772	transferase activity, transferring phosphorus-containing groups	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0051377	mannose-ethanolamine phosphotransferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0006506	GPI anchor biosynthetic process	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00563	Glycosylphosphatidylinositol

Diseases

Associated diseases	References
Inherited glycosylphosphatidylinositol deficiencies	KEGG:H01489
Hyperphosphatasia with mental retardation syndrome	KEGG:H01488
Inherited glycosylphosphatidylinositol deficiencies	KEGG:H01489
Hyperphosphatasia with mental retardation syndrome	KEGG:H01488
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881