• Gene id: 9487

Gene Summary

• Gene Symbol: PIGL   Gene   UCSC   Ensembl
• Aliases: CHIME
• Gene name: phosphatidylinositol glycan anchor biosynthesis class L
• Alternate names: N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase, N-acetylglucosaminylphosphatidylinositol deacetylase, PIG-L, phosphatidylinositol glycan, class L, phosphatidylinositol-glycan biosynthesis class L protein,
• Gene location: 17p11.2 (16217208: 16351799)     Exons: 10     NC_000017.11
• Gene summary(Entrez): This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein
• OMIM: 607866

Protein Summary

• Protein general information: Q9Y2B2  
  • Name: N acetylglucosaminyl phosphatidylinositol de N acetylase (EC 3.5.1.89) (Phosphatidylinositol glycan biosynthesis class L protein) (PIG L)
  • Length: 252  
  • Mass: 28531
• Sequence:

  MEAMWLLCVALAVLAWGFLWVWDSSERMKSREQGGRLGAESRTLLVIAHPDDEAMFFAPTVLGLARLRHWVYLLC
  FSAGNYYNQGETRKKELLQSCDVLGIPLSSVMIIDNRDFPDDPGMQWDTEHVARVLLQHIEVNGINLVVTFDAGG
  VSGHSNHIALYAAVRALHSEGKLPKGCSVLTLQSVNVLRKYISLLDLPLSLLHTQDVLFVLNSKEVAQAKKAMSC
  HRSQLLWFRRLYIIFSRYMRINSLSFL

• Structural information:
  • Interpro: IPR003737  IPR039516  IPR024078  
  • STRING: ENSP00000225609
• Other Databases: GeneCards:  PIGL  Malacards:  PIGL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000225	N-acetylglucosaminylphosphatidylinositol deacetylase activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0006506	GPI anchor biosynthetic process	IBA	biological process
GO:0016811	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IBA	molecular function
GO:0000225	N-acetylglucosaminylphosphatidylinositol deacetylase activity	IEA	molecular function
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:0016787	hydrolase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000225	N-acetylglucosaminylphosphatidylinositol deacetylase activity	IEA	molecular function
GO:0000225	N-acetylglucosaminylphosphatidylinositol deacetylase 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:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0000225	N-acetylglucosaminylphosphatidylinositol deacetylase activity	NAS	molecular function
GO:0006506	GPI anchor biosynthetic process	NAS	biological process
GO:0000225	N-acetylglucosaminylphosphatidylinositol deacetylase activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0006506	GPI anchor biosynthetic process	IBA	biological process
GO:0016811	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IBA	molecular function
GO:0000225	N-acetylglucosaminylphosphatidylinositol deacetylase activity	IEA	molecular function
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:0016787	hydrolase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000225	N-acetylglucosaminylphosphatidylinositol deacetylase activity	IEA	molecular function
GO:0000225	N-acetylglucosaminylphosphatidylinositol deacetylase 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:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0000225	N-acetylglucosaminylphosphatidylinositol deacetylase activity	NAS	molecular function
GO:0006506	GPI anchor biosynthetic process	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00563	Glycosylphosphatidylinositol

Diseases

Associated diseases	References
Inherited glycosylphosphatidylinositol deficiencies	KEGG:H01489
CHIME syndrome	KEGG:H01487
Inherited glycosylphosphatidylinositol deficiencies	KEGG:H01489
CHIME syndrome	KEGG:H01487
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