• Gene id: 9488

Gene Summary

• Gene Symbol: PIGB   Gene   UCSC   Ensembl
• Aliases: EIEE80, GPI-MT-III, PIG-B
• Gene name: phosphatidylinositol glycan anchor biosynthesis class B
• Alternate names: GPI mannosyltransferase 3, GPI mannosyltransferase III, dol-P-Man dependent GPI mannosyltransferase, phosphatidylinositol glycan, class B, phosphatidylinositol-glycan biosynthesis class B protein,
• Gene location: 15q21.3 (55318938: 55355647)     Exons: 11     NC_000015.10
• 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 found on many blood cells and serves to anchor proteins to the
• OMIM: 604122

Protein Summary

• Protein general information: Q92521  
  • Name: GPI mannosyltransferase 3 (EC 2.4.1. ) (GPI mannosyltransferase III) (GPI MT III) (Phosphatidylinositol glycan biosynthesis class B protein) (PIG B)
  • Length: 554  
  • Mass: 65056
• Sequence:

  MRRPLSKCGMEPGGGDASLTLHGLQNRSHGKIKLRKRKSTLYFNTQEKSARRRGDLLGENIYLLLFTIALRILNC
  FLVQTSFVPDEYWQSLEVSHHMVFNYGYLTWEWTERLRSYTYPLIFASIYKILHLLGKDSVQLLIWIPRLAQALL
  SAVADVRLYSLMKQLENQEVARWVFFCQLCSWFTWYCCTRTLTNTMETVLTIIALFYYPLEGSKSMNSVKYSSLV
  ALAFIIRPTAVILWTPLLFRHFCQEPRKLDLILHHFLPVGFVTLSLSLMIDRIFFGQWTLVQFNFLKFNVLQNWG
  TFYGSHPWHWYFSQGFPVILGTHLPFFIHGCYLAPKRYRILLVTVLWTLLVYSMLSHKEFRFIYPVLPFCMVFCG
  YSLTHLKTWKKPALSFLFLSNLFLALYTGLVHQRGTLDVMSHIQKVCYNNPNKSSASIFIMMPCHSTPYYSHVHC
  PLPMRFLQCPPDLTGKSHYLDEADVFYLNPLNWLHREFHDDASLPTHLITFSILEEEISAFLISSNYKRTAVFFH
  THLPEGRIGSHIYVYERKLKGKFNMKMKF

• Structural information:
  • Interpro: IPR005599  IPR039521  
  • STRING: ENSP00000164305
• Other Databases: GeneCards:  PIGB  Malacards:  PIGB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000030	mannosyltransferase activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0006506	GPI anchor biosynthetic process	IBA	biological process
GO:0000026	alpha-1,2-mannosyltransferase activity	IBA	molecular function
GO:0004376	glycolipid mannosyltransferase activity	IEA	molecular function
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0000026	alpha-1,2-mannosyltransferase activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0004376	glycolipid mannosyltransferase 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:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0006506	GPI anchor biosynthetic process	IDA	biological process
GO:0000030	mannosyltransferase activity	IDA	molecular function
GO:0097502	mannosylation	IDA	biological process
GO:0016021	integral component of membrane	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00563	Glycosylphosphatidylinositol

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq