• Gene id: 54872

Gene Summary

• Gene Symbol: PIGG   Gene   UCSC   Ensembl
• Aliases: GPI7, LAS21, MRT53, PRO4405, RLGS1930
• Gene name: phosphatidylinositol glycan anchor biosynthesis class G
• Alternate names: GPI ethanolamine phosphate transferase 2, phosphatidylinositol-glycan biosynthesis class G protein,
• Gene location: 4p16.3 (499199: 540199)     Exons: 18     NC_000004.12
• Gene summary(Entrez): This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinosito
• OMIM: 616701

Protein Summary

• Protein general information: Q5H8A4  
  • Name: GPI ethanolamine phosphate transferase 2 (EC 2. . . ) (GPI7 homolog) (hGPI7) (Phosphatidylinositol glycan biosynthesis class G protein) (PIG G)
  • Length: 983  
  • Mass: 108173
• Sequence:

  MRLGSGTFATCCVAIEVLGIAVFLRGFFPAPVRSSARAEHGAEPPAPEPSAGASSNWTTLPPPLFSKVVIVLIDA
  LRDDFVFGSKGVKFMPYTTYLVEKGASHSFVAEAKPPTVTMPRIKALMTGSLPGFVDVIRNLNSPALLEDSVIRQ
  AKAAGKRIVFYGDETWVKLFPKHFVEYDGTTSFFVSDYTEVDNNVTRHLDKVLKRGDWDILILHYLGLDHIGHIS
  GPNSPLIGQKLSEMDSVLMKIHTSLQSKERETPLPNLLVLCGDHGMSETGSHGASSTEEVNTPLILISSAFERKP
  GDIRHPKHVQQTDVAATLAIALGLPIPKDSVGSLLFPVVEGRPMREQLRFLHLNTVQLSKLLQENVPSYEKDPGF
  EQFKMSERLHGNWIRLYLEEKHSEVLFNLGSKVLRQYLDALKTLSLSLSAQVAQYDIYSMMVGTVVVLEVLTLLL
  LSVPQALRRKAELEVPLSSPGFSLLFYLVILVLSAVHVIVCTSAESSCYFCGLSWLAAGGVMVLASALLCVIVSV
  LTNVLVGGNTPRKNPMHPSSRWSELDLLILLGTAGHVLSLGASSFVEEEHQTWYFLVNTLCLALSQETYRNYFLG
  DDGEPPCGLCVEQGHDGATAAWQDGPGCDVLERDKGHGSPSTSEVLRGREKWMVLASPWLILACCRLLRSLNQTG
  VQWAHRPDLGHWLTSSDHKAELSVLAALSLLVVFVLVQRGCSPVSKAALALGLLGVYCYRAAIGSVRFPWRPDSK
  DISKGIIEARFVYVFVLGILFTGTKDLLKSQVIAADFKLKTVGLWEIYSGLVLLAALLFRPHNLPVLAFSLLIQT
  LMTKFIWKPLRHDAAEITVMHYWFGQAFFYFQGNSNNIATVDISAGFVGLDTYVEIPAVLLTAFGTYAGPVLWAS
  HLVHFLSSETRSGSALSHACFCYALICSIPVFTYIVLVTSLRYHLFIWSVFSPKLLYEGMHLLITAAVCVFFTAM
  DQTRLTQS

• Structural information:
  • Interpro: IPR017850  IPR002591  IPR037674  IPR039527  
  • CDD: cd16024
  • STRING: ENSP00000415203
• Other Databases: GeneCards:  PIGG  Malacards:  PIGG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051267	CP2 mannose-ethanolamine phosphotransferase activity	IBA	molecular function
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0006506	GPI anchor biosynthetic process	IBA	biological process
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0051377	mannose-ethanolamine phosphotransferase activity	IEA	molecular function
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:0016021	integral component of membrane	IEA	cellular component
GO:0051267	CP2 mannose-ethanolamine phosphotransferase activity	IDA	molecular function
GO:0006506	GPI anchor biosynthetic process	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0016254	preassembly of GPI anchor in ER membrane	TAS	biological process
GO:0016780	phosphotransferase activity, for other substituted phosphate groups	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0051267	CP2 mannose-ethanolamine phosphotransferase activity	IBA	molecular function
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0006506	GPI anchor biosynthetic process	IBA	biological process
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0051377	mannose-ethanolamine phosphotransferase activity	IEA	molecular function
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:0016021	integral component of membrane	IEA	cellular component
GO:0051267	CP2 mannose-ethanolamine phosphotransferase activity	IDA	molecular function
GO:0006506	GPI anchor biosynthetic process	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0016254	preassembly of GPI anchor in ER membrane	TAS	biological process
GO:0016780	phosphotransferase activity, for other substituted phosphate groups	TAS	molecular function
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
hsa00563	Glycosylphosphatidylinositol

Diseases

Associated diseases	References
Autosomal recessive mental retardation	KEGG:H00768
Autosomal recessive mental retardation	KEGG:H00768
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray