• Gene id: 143888

Gene Summary

• Gene Symbol: POGLUT3   Gene   UCSC   Ensembl
• Aliases: KDELC2
• Gene name: protein O-glucosyltransferase 3
• Alternate names: protein O-glucosyltransferase 3, KDEL (Lys-Asp-Glu-Leu) containing 2, KDEL motif containing 2, KDEL motif-containing protein 2, protein O-xylosyltransferase POGLUT3,
• Gene location: 11q22.3 (108498383: 108472115)     Exons: 9     NC_000011.10
• OMIM: 618503

Protein Summary

• Protein general information: Q7Z4H8  
  • Name: Protein O glucosyltransferase 3 (EC 2.4.1. ) (KDEL motif containing protein 2) (Protein O xylosyltransferase POGLUT3) (EC 2.4.2. )
  • Length: 507  
  • Mass: 58572
• Sequence:

  MRRLPRALLLQLRLALLVAAGAPEVLVSAPRSLVWGPGLQAAVVLPVRYFYLQAVNSEGQNLTRSPAGETPFKVV
  VKSLSPKELVRIHVPKPLDRNDGTFLMRYRMYETVDEGLKIEVLYGDEHVAQSPYILKGPVYHEYCECPEDPQAW
  QKTLSCPTKEPQIAKDFASFPSINLQQMLKEVPKRFGDERGAIVHYTILNNHVYRRSLGKYTDFKMFSDEILLSL
  TRKVLLPDLEFYVNLGDWPLEHRKVNGTPSPIPIISWCGSLDSRDVVLPTYDITHSMLEAMRGVTNDLLSIQGNT
  GPSWINKTERAFFRGRDSREERLQLVQLSKENPQLLDAGITGYFFFQEKEKELGKAKLMGFFDFFKYKYQVNVDG
  TVAAYRYPYLMLGDSLVLKQDSPYYEHFYMALEPWKHYVPIKRNLSDLLEKVKWAKENDEEAKKIAKEGQLMARD
  LLQPHRLYCYYYQVLQKYAERQSSKPEVRDGMELVPQPEDSTAICQCHRKKPSREEL

• Structural information:
  • Interpro: IPR006598  IPR017868  IPR001298  IPR013783  IPR014756  
  • Prosite: PS00014 PS50194
  • STRING: ENSP00000315386
• Other Databases: GeneCards:  POGLUT3  Malacards:  POGLUT3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0012505	endomembrane system	IBA	cellular component
GO:0046527	glucosyltransferase activity	IBA	molecular function
GO:0018242	protein O-linked glycosylation via serine	IDA	biological process
GO:0035252	UDP-xylosyltransferase activity	IDA	molecular function
GO:0035251	UDP-glucosyltransferase activity	IDA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0005575	cellular_component	ND	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray