• Gene id: 51604

Gene Summary

• Gene Symbol: PIGT   Gene   UCSC   Ensembl
• Aliases: CGI-06, MCAHS3, NDAP, PNH2
• Gene name: phosphatidylinositol glycan anchor biosynthesis class T
• Alternate names: GPI transamidase component PIG-T, GPI transamidase subunit, neurotrophin-regulated neuronal development-associated protein, phosphatidylinositol-glycan biosynthesis class T protein,
• Gene location: 20q13.12 (45416140: 45426240)     Exons: 12     NC_000020.11
• 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 an essential component of t
• OMIM: 605710

Protein Summary

• Protein general information: Q969N2  
  • Name: GPI transamidase component PIG T (Phosphatidylinositol glycan biosynthesis class T protein)
  • Length: 578  
  • Mass: 65700
• Sequence:

  MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQ
  LISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNT
  VTPTASFKPLGLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPV
  CRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPP
  TTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNT
  HPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERAL
  LKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMP
  YNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL

• Structural information:
  • Interpro: IPR007245  
  • STRING: ENSP00000279036
• Other Databases: GeneCards:  PIGT  Malacards:  PIGT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042765	GPI-anchor transamidase complex	IBA	cellular component
GO:0016255	attachment of GPI anchor to protein	IBA	biological process
GO:0003923	GPI-anchor transamidase activity	IBA	contributes to
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:0005737	cytoplasm	IEA	cellular component
GO:0016255	attachment of GPI anchor to protein	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0042765	GPI-anchor transamidase complex	IEA	cellular component
GO:0003923	GPI-anchor transamidase activity	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0051402	neuron apoptotic process	IEA	biological process
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:0042765	GPI-anchor transamidase complex	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0030176	integral component of endoplasmic reticulum membrane	NAS	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0016255	attachment of GPI anchor to protein	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

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
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