• Gene id: 5277

Gene Summary

• Gene Symbol: PIGA   Gene   UCSC   Ensembl
• Aliases: GPI3, MCAHS2, PIG-A, PNH1
• Gene name: phosphatidylinositol glycan anchor biosynthesis class A
• Alternate names: phosphatidylinositol N-acetylglucosaminyltransferase subunit A, GLCNAC-PI synthesis protein, GPI anchor biosynthesis, class A GlcNAc-inositol phospholipid assembly protein, phosphatidylinositol-glycan biosynthesis, class A protein,
• Gene location: Xp22.2 (15335553: 15319450)     Exons: 7     NC_000023.11
• Gene summary(Entrez): This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anc
• OMIM: 311770

Protein Summary

• Protein general information: P37287  
  • Name: Phosphatidylinositol N acetylglucosaminyltransferase subunit A (EC 2.4.1.198) (GlcNAc PI synthesis protein) (Phosphatidylinositol glycan biosynthesis class A protein) (PIG A)
  • Length: 484  
  • Mass: 54127
• Sequence:

  MACRGGAGNGHRASATLSRVSPGSLYTCRTRTHNICMVSDFFYPNMGGVESHIYQLSQCLIERGHKVIIVTHAYG
  NRKGIRYLTSGLKVYYLPLKVMYNQSTATTLFHSLPLLRYIFVRERVTIIHSHSSFSAMAHDALFHAKTMGLQTV
  FTDHSLFGFADVSSVLTNKLLTVSLCDTNHIICVSYTSKENTVLRAALNPEIVSVIPNAVDPTDFTPDPFRRHDS
  ITIVVVSRLVYRKGIDLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQLHDRVRLLGALEHKDVRNVLV
  QGHIFLNTSLTEAFCMAIVEAASCGLQVVSTRVGGIPEVLPENLIILCEPSVKSLCEGLEKAIFQLKSGTLPAPE
  NIHNIVKTFYTWRNVAERTEKVYDRVSVEAVLPMDKRLDRLISHCGPVTGYIFALLAVFNFLFLIFLRWMTPDSI
  IDVAIDATGPRGAWTNNYSHSKRGGENNEISETR

• Structural information:
  • Interpro: IPR001296  IPR013234  
  • STRING: ENSP00000369820
• Other Databases: GeneCards:  PIGA  Malacards:  PIGA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006506	GPI anchor biosynthetic process	TAS	biological process
GO:0000506	glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IDA	cellular component
GO:0017176	phosphatidylinositol N-acetylglucosaminyltransferase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0009893	positive regulation of metabolic process	TAS	biological process
GO:0006506	GPI anchor biosynthetic process	IBA	biological process
GO:0017176	phosphatidylinositol N-acetylglucosaminyltransferase activity	IBA	molecular function
GO:0000506	glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IBA	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:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0017176	phosphatidylinositol N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0008194	UDP-glycosyltransferase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0016254	preassembly of GPI anchor in ER membrane	TAS	biological process
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0016020	membrane	HDA	cellular component

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
Paroxysmal nocturnal hemoglobinuria	KEGG:H01053
Inherited glycosylphosphatidylinositol deficiencies	KEGG:H01489
Multiple congenital anomalies-hypotonia-seizures syndrome	KEGG:H01486
Paroxysmal nocturnal hemoglobinuria	KEGG:H01053
Paroxysmal nocturnal hemoglobinuria	PMID:12424196
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)