• Gene id: 128869

Gene Summary

• Gene Symbol: PIGU   Gene   UCSC   Ensembl
• Aliases: CDC91L1, GAB1, GPIBD21, NEDBSS
• Gene name: phosphatidylinositol glycan anchor biosynthesis class U
• Alternate names: phosphatidylinositol glycan anchor biosynthesis class U protein, CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1, GPI transamidase component PIG-U, GPI transamidase subunit, cell division cycle 91-like 1 protein, cell division cycle protein 91-li,
• Gene location: 20q11.22 (34677102: 34560541)     Exons: 15     NC_000020.11
• Gene summary(Entrez): The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attach

Protein Summary

• Protein general information: Q9H490  
  • Name: Phosphatidylinositol glycan anchor biosynthesis class U protein (Cell division cycle protein 91 like 1) (Protein CDC91 like 1) (GPI transamidase component PIG U)
  • Length: 435  
  • Mass: 50052
• Sequence:

  MAAPLVLVLVVAVTVRAALFRSSLAEFISERVEVVSPLSSWKRVVEGLSLLDLGVSPYSGAVFHETPLIIYLFHF
  LIDYAELVFMITDALTAIALYFAIQDFNKVVFKKQKLLLELDQYAPDVAELIRTPMEMRYIPLKVALFYLLNPYT
  ILSCVAKSTCAINNTLIAFFILTTIKGSAFLSAIFLALATYQSLYPLTLFVPGLLYLLQRQYIPVKMKSKAFWIF
  SWEYAMMYVGSLVVIICLSFFLLSSWDFIPAVYGFILSVPDLTPNIGLFWYFFAEMFEHFSLFFVCVFQINVFFY
  TIPLAIKLKEHPIFFMFIQIAVIAIFKSYPTVGDVALYMAFFPVWNHLYRFLRNIFVLTCIIIVCSLLFPVLWHL
  WIYAGSANSNFFYAITLTFNVGQILLISDYFYAFLRREYYLTHGLYLTAKDGTEAMLVLK

• Structural information:
  • Interpro: IPR009600  
  • STRING: ENSP00000217446
• Other Databases: GeneCards:  PIGU  Malacards:  PIGU

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006506	GPI anchor biosynthetic process	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0046425	regulation of receptor signaling pathway via JAK-STAT	IDA	biological process
GO:0003923	GPI-anchor transamidase activity	IBA	contributes to
GO:0042765	GPI-anchor transamidase complex	IBA	cellular component
GO:0034394	protein localization to cell surface	IBA	biological process
GO:0016255	attachment of GPI anchor to protein	IBA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
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:0016021	integral component of membrane	IEA	cellular component
GO:0016020	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: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:0016020	membrane	HDA	cellular component
GO:0016255	attachment of GPI anchor to protein	IMP	biological process
GO:0016255	attachment of GPI anchor to protein	TAS	biological process
GO:0034235	GPI anchor binding	IMP	contributes to

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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq