• Gene id: 360203

Gene Summary

• Gene Symbol: GLT6D1   Gene   UCSC   Ensembl
• Aliases: GLTDC1, GT6M7
• Gene name: glycosyltransferase 6 domain containing 1
• Alternate names: putative glycosyltransferase 6 domain-containing protein 1, galactosyltransferase family 6 domain containing 1, glycosyltransferase 6 domain-containing protein 1,
• Gene location: 9q34.3 (135641223: 135623647)     Exons: 10     NC_000009.12
• Gene summary(Entrez): The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal species. In humans, the ABO gene is considered the sole
• OMIM: 613699

Protein Summary

• Protein general information: Q7Z4J2  
  • Name: Putative glycosyltransferase 6 domain containing protein 1 (EC 2.4.1. ) (Galactosyltransferase family 6 domain containing 1)
  • Length: 276  
  • Mass: 32608
  • Tissue specificity: Expressed in both healthy and inflamed gingival tissue samples at similar levels, with higher expression in the gingival connective tissue compared to gingival epithelium. Strongest expression in testis, followed by leukocytes. {ECO
• Sequence:

  MNSKRMLLLVLFAFSLMLVERYFRNHQVEELRLSDWFHPRKRPDVITKTDWLAPVLWEGTFDRRVLEKHYRRRNI
  TVGLAVFATGRFAEEYLRPFLHSANKHFMTGYRVIFYIMVDAFFKLPDIEPSPLRTFKAFKVGTERWWLDGPLVH
  VKSLGEHIASHIQDEVDFLFSMAANQVFQNEFGVETLGPLVAQLHAWWYFRNTKNFPYERRPTSAACIPFGQGDF
  YYGNLMVGGTPHNILDFIKEYLNGVIHDIKNGLNSTYEKHLNKYFYLNKPT

• Structural information:
  • Interpro: IPR005076  IPR029044  
  • STRING: ENSP00000360829
• Other Databases: GeneCards:  GLT6D1  Malacards:  GLT6D1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030259	lipid glycosylation	IBA	biological process
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0031982	vesicle	IBA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IBA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016758	transferase activity, transferring hexosyl groups	IEA	molecular function
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:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
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)
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)