• Gene id: 94005

Gene Summary

• Gene Symbol: PIGS   Gene   UCSC   Ensembl
• Aliases: GPIBD18
• Gene name: phosphatidylinositol glycan anchor biosynthesis class S
• Alternate names: GPI transamidase component PIG-S, GPI transamidase subunit, phosphatidylinositol glycan, class S, phosphatidylinositol-glycan biosynthesis class S protein,
• Gene location: 17q11.2 (123637092: 123216338)     Exons: 42     NC_000006.12
• Gene summary(Entrez): This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of
• OMIM: 610271

Protein Summary

• Protein general information: Q96S52  
  • Name: GPI transamidase component PIG S (Phosphatidylinositol glycan biosynthesis class S protein)
  • Length: 555  
  • Mass: 61656
• Sequence:

  MAAAGAAATHLEVARGKRAALFFAAVAIVLGLPLWWKTTETYRASLPYSQISGLNALQLRLMVPVTVVFTRESVP
  LDDQEKLPFTVVHEREIPLKYKMKIKCRFQKAYRRALDHEEEALSSGSVQEAEAMLDEPQEQAEGSLTVYVISEH
  SSLLPQDMMSYIGPKRTAVVRGIMHREAFNIIGRRIVQVAQAMSLTEDVLAAALADHLPEDKWSAEKRRPLKSSL
  GYEITFSLLNPDPKSHDVYWDIEGAVRRYVQPFLNALGAAGNFSVDSQILYYAMLGVNPRFDSASSSYYLDMHSL
  PHVINPVESRLGSSAASLYPVLNFLLYVPELAHSPLYIQDKDGAPVATNAFHSPRWGGIMVYNVDSKTYNASVLP
  VRVEVDMVRVMEVFLAQLRLLFGIAQPQLPPKCLLSGPTSEGLMTWELDRLLWARSVENLATATTTLTSLAQLLG
  KISNIVIKDDVASEVYKAVAAVQKSAEELASGHLASAFVASQEAVTSSELAFFDPSLLHLLYFPDDQKFAIYIPL
  FLPMAVPILLSLVKIFLETRKSWRKPEKTD

• Structural information:
  • Interpro: IPR019540  
  • STRING: ENSP00000309430
• Other Databases: GeneCards:  PIGS  Malacards:  PIGS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016255	attachment of GPI anchor to protein	IEA	biological process
GO:0042765	GPI-anchor transamidase complex	IEA	cellular component
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016255	attachment of GPI anchor to protein	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
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:0042765	GPI-anchor transamidase complex	IEA	cellular component
GO:0016255	attachment of GPI anchor to protein	IEA	biological process
GO:0003923	GPI-anchor transamidase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0042765	GPI-anchor transamidase complex	IDA	cellular component
GO:0042765	GPI-anchor transamidase complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0042765	GPI-anchor transamidase complex	TAS	cellular component
GO:0016255	attachment of GPI anchor to protein	TAS	biological process
GO:0005515	protein binding	IPI	molecular function

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881