• Gene id: 9091

Gene Summary

• Gene Symbol: PIGQ   Gene   UCSC   Ensembl
• Aliases: EIEE77, GPI1, c407A10.1
• Gene name: phosphatidylinositol glycan anchor biosynthesis class Q
• Alternate names: phosphatidylinositol N-acetylglucosaminyltransferase subunit Q, N-acetylglucosaminyl transferase component Gpi1, N-acetylglucosamyl transferase component GPI1, PIG-Q, c407A10.1 (GPI1 (N-acetylglucosaminyl transferase component)), phosphatidylinositol glycan, c,
• Gene location: 16p13.3 (569967: 584137)     Exons: 11     NC_000016.10
• Gene summary(Entrez): This gene is involved in the first step 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 gene encodes a N-acetylglucosaminyl transfe
• OMIM: 147263

Protein Summary

• Protein general information: Q9BRB3  
  • Name: Phosphatidylinositol N acetylglucosaminyltransferase subunit Q (EC 2.4.1.198) (N acetylglucosamyl transferase component GPI1) (Phosphatidylinositol glycan biosynthesis class Q protein) (PIG Q)
  • Length: 760  
  • Mass: 84082
• Sequence:

  MVLKAFFPTCCVSTDSGLLVGRWVPEQSSAVVLAVLHFPFIPIQVKQLLAQVRQASQVGVAVLGTWCHCRQEPEE
  SLGRFLESLGAVFPHEPWLRLCRERGGTFWSCEATHRQAPTAPGAPGEDQVMLIFYDQRQVLLSQLHLPTVLPDR
  QAGATTASTGGLAAVFDTVARSEVLFRSDRFDEGPVRLSHWQSEGVEASILAELARRASGPICLLLASLLSLVSA
  VSACRVFKLWPLSFLGSKLSTCEQLRHRLEHLTLIFSTRKAENPAQLMRKANTVASVLLDVALGLMLLSWLHGRS
  RIGHLADALVPVADHVAEELQHLLQWLMGAPAGLKMNRALDQVLGRFFLYHIHLWISYIHLMSPFVEHILWHVGL
  SACLGLTVALSLLSDIIALLTFHIYCFYVYGARLYCLKIHGLSSLWRLFRGKKWNVLRQRVDSCSYDLDQLFIGT
  LLFTILLFLLPTTALYYLVFTLLRLLVVAVQGLIHLLVDLINSLPLYSLGLRLCRPYRLADKPTALQPRGAHLPP
  PQLWLPPQALLGRPVPQAVPWGAHLPLEAERGQAGLRELLARLAPPHGHSQPSALPGWHQLSWRMSCALWTLLCA
  PEHGRPCYHTLGLEVIGSEQMWGWPARLAALHHWHCLPWDPLPTCCGHHGGEHSNPRCPEHCPMPTLCTQVQRVR
  PPQQPQVEGWSPWGLPSGSALAVGVEGPCQDEPPSPRHPLAPSAEQHPASGGLKQSLTPVPSGPGPSLPEPHGVY
  LRMFPGEVAL

• Structural information:
  • Interpro: IPR007720  
  • STRING: ENSP00000026218
• Other Databases: GeneCards:  PIGQ  Malacards:  PIGQ

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017176	phosphatidylinositol N-acetylglucosaminyltransferase activity	IBA	contributes to
GO:0000506	glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IBA	cellular component
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0017176	phosphatidylinositol N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0016021	integral component of membrane	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:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0005975	carbohydrate metabolic process	TAS	biological process
GO:0017176	phosphatidylinositol N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0016254	preassembly of GPI anchor in ER membrane	TAS	biological process
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
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq