• Gene id: 93183

Gene Summary

• Gene Symbol: PIGM   Gene   UCSC   Ensembl
• Aliases: GPI-MT-I
• Gene name: phosphatidylinositol glycan anchor biosynthesis class M
• Alternate names: GPI mannosyltransferase 1, DPM:GlcN-(acyl-)PI mannosyltransferase, GPI mannosyltransferase I, PIG-M mannosyltransferase, dol-P-Man dependent GPI mannosyltransferase, phosphatidylinositol-glycan biosynthesis class M protein,
• Gene location: 1q23.2 (160031989: 160024952)     Exons: 1     NC_000001.11
• Gene summary(Entrez): This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. T
• OMIM: 610273

Protein Summary

• Protein general information: Q9H3S5  
  • Name: GPI mannosyltransferase 1 (EC 2.4.1. ) (GPI mannosyltransferase I) (GPI MT I) (Phosphatidylinositol glycan biosynthesis class M protein) (PIG M)
  • Length: 423  
  • Mass: 49460
• Sequence:

  MGSTKHWGEWLLNLKVAPAGVFGVAFLARVALVFYGVFQDRTLHVRYTDIDYQVFTDAARFVTEGRSPYLRATYR
  YTPLLGWLLTPNIYLSELFGKFLFISCDLLTAFLLYRLLLLKGLGRRQACGYCVFWLLNPLPMAVSSRGNADSIV
  ASLVLMVLYLIKKRLVACAAVFYGFAVHMKIYPVTYILPITLHLLPDRDNDKSLRQFRYTFQACLYELLKRLCNR
  AVLLFVAVAGLTFFALSFGFYYEYGWEFLEHTYFYHLTRRDIRHNFSPYFYMLYLTAESKWSFSLGIAAFLPQLI
  LLSAVSFAYYRDLVFCCFLHTSIFVTFNKVCTSQYFLWYLCLLPLVMPLVRMPWKRAVVLLMLWFIGQAMWLAPA
  YVLEFQGKNTFLFIWLAGLFFLLINCSILIQIISHYKEEPLTERIKYD

• Structural information:
  • Interpro: IPR007704  
  • STRING: ENSP00000357069
• Other Databases: GeneCards:  PIGM  Malacards:  PIGM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000030	mannosyltransferase activity	IBA	molecular function
GO:0006506	GPI anchor biosynthetic process	IBA	biological process
GO:1990529	glycosylphosphatidylinositol-mannosyltransferase I complex	IBA	cellular component
GO:0004376	glycolipid mannosyltransferase activity	IEA	molecular function
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0051751	alpha-1,4-mannosyltransferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0016254	preassembly of GPI anchor in ER membrane	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0097502	mannosylation	IEA	biological process
GO:0097502	mannosylation	IEA	biological process
GO:0006506	GPI anchor biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00563	Glycosylphosphatidylinositol

Diseases

Associated diseases	References
Inherited glycosylphosphatidylinositol deficiencies	KEGG:H01489
PIGM-congenital disorder of glycosylation	KEGG:H01127
Inherited glycosylphosphatidylinositol deficiencies	KEGG:H01489
PIGM-congenital disorder of glycosylation	KEGG:H01127
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)