• Gene id: 54965

Gene Summary

• Gene Symbol: PIGX   Gene   UCSC   Ensembl
• Aliases: PIG-X
• Gene name: phosphatidylinositol glycan anchor biosynthesis class X
• Alternate names: phosphatidylinositol-glycan biosynthesis class X protein, GPI-mannosyltransferase subunit,
• Gene location: 3q29 (196712376: 196736006)     Exons: 7     NC_000003.12
• Gene summary(Entrez): This gene encodes a type I transmembrane protein in the endoplasmic reticulum (ER). The protein is an essential component of glycosylphosphatidylinositol-mannosyltransferase I, which transfers the first of the four mannoses in the GPI-anchor precursors du
• OMIM: 610276

Protein Summary

• Protein general information: Q8TBF5  
  • Name: Phosphatidylinositol glycan biosynthesis class X protein (PIG X)
  • Length: 258  
  • Mass: 28788
• Sequence:

  MAARVAAVRAAAWLLLGAATGLTRGPAAAFTAARSDAGIRAMCSEIILRQEVLKDGFHRDLLIKVKFGESIEDLH
  TCRLLIKQDIPAGLYVDPYELASLRERNITEAVMVSENFDIEAPNYLSKESEVLIYARRDSQCIDCFQAFLPVHC
  RYHRPHSEDGEASIVVNNPDLLMFCDQEFPILKCWAHSEVAAPCALENEDICQWNKMKYKSVYKNVILQVPVGLT
  VHTSLVCSVTLLITILCSTLILVAVFKYGHFSL

• Structural information:
  • Interpro: IPR013233  IPR040039  
  • STRING: ENSP00000296333
• Other Databases: GeneCards:  PIGX  Malacards:  PIGX

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
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: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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881