• Gene id: 23556

Gene Summary

• Gene Symbol: PIGN   Gene   UCSC   Ensembl
• Aliases: MCAHS, MCAHS1, MCD4, MDC4, PIG-N
• Gene name: phosphatidylinositol glycan anchor biosynthesis class N
• Alternate names: GPI ethanolamine phosphate transferase 1, MCD4 homolog, phosphatidylinositol-glycan biosynthesis class N protein,
• Gene location: 18q21.33 (62187117: 62041163)     Exons: 33     NC_000018.10
• Gene summary(Entrez): This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmi
• OMIM: 606097

Protein Summary

• Protein general information: O95427  
  • Name: GPI ethanolamine phosphate transferase 1 (EC 2. . . ) (MCD4 homolog) (Phosphatidylinositol glycan biosynthesis class N protein) (PIG N)
  • Length: 931  
  • Mass: 105810
• Sequence:

  MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRN
  IIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGAS
  GDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSR
  DYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQ
  FDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKM
  TQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSLCKELIHLALKGLSYYHTYDRFFLGVNVVIG
  FVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLRE
  FQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSL
  LLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMKRKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLL
  RKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQET
  LQQSGVCCKQKLTSIQFSYNTDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPF
  MMGALMMWKILIPFVLVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTSISHYVIVMS
  MTIFLVFLNGLAQLLTTKKLRLCGKPKSHFM

• Structural information:
  • Interpro: IPR017850  IPR007070  IPR017852  IPR002591  IPR037671  
  • CDD: cd16020
  • STRING: ENSP00000350263
• Other Databases: GeneCards:  PIGN  Malacards:  PIGN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006506	GPI anchor biosynthetic process	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0051377	mannose-ethanolamine phosphotransferase activity	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
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:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0051377	mannose-ethanolamine phosphotransferase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0016254	preassembly of GPI anchor in ER membrane	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00563	Glycosylphosphatidylinositol

Diseases

Associated diseases	References
Inherited glycosylphosphatidylinositol deficiencies	KEGG:H01489
Multiple congenital anomalies-hypotonia-seizures syndrome	KEGG:H01486
Inherited glycosylphosphatidylinositol deficiencies	KEGG:H01489
Multiple congenital anomalies-hypotonia-seizures syndrome	KEGG:H01486
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)