• Gene id: 93010

Gene Summary

• Gene Symbol: B3GNT7   Gene   UCSC   Ensembl
• Aliases: beta3GnT7
• Gene name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7
• Alternate names: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7, BGnT-7, beta 1,3-N-acetylglucosaminyltransferase 7, beta-1,3-Gn-T7, beta3Gn-T7,
• Gene location: 2q37.1 (231395709: 231401163)     Exons: 3     NC_000002.12
• OMIM: 107265

Protein Summary

• Protein general information: Q8NFL0  
  • Name: UDP GlcNAc:betaGal beta 1,3 N acetylglucosaminyltransferase 7 (BGnT 7) (Beta 1,3 Gn T7) (Beta 1,3 N acetylglucosaminyltransferase 7) (Beta3Gn T7) (EC 2.4.1. )
  • Length: 401  
  • Mass: 45987
• Sequence:

  MSLWKKTVYRSLCLALALLVAVTVFQRSLTPGQFLQEPPPPTLEPQKAQKPNGQLVNPNNFWKNPKDVAAPTPMA
  SQGPQAWDVTTTNCSANINLTHQPWFQVLEPQFRQFLFYRHCRYFPMLLNHPEKCRGDVYLLVVVKSVITQHDRR
  EAIRQTWGRERQSAGGGRGAVRTLFLLGTASKQEERTHYQQLLAYEDRLYGDILQWGFLDTFFNLTLKEIHFLKW
  LDIYCPHVPFIFKGDDDVFVNPTNLLEFLADRQPQENLFVGDVLQHARPIRRKDNKYYIPGALYGKASYPPYAGG
  GGFLMAGSLARRLHHACDTLELYPIDDVFLGMCLEVLGVQPTAHEGFKTFGISRNRNSRMNKEPCFFRAMLVVHK
  LLPPELLAMWGLVHSNLTCSRKLQVL

• Structural information:
  • Interpro: IPR002659  
  • STRING: ENSP00000287590
• Other Databases: GeneCards:  B3GNT7  Malacards:  B3GNT7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0006486	protein glycosylation	IBA	biological process
GO:0008375	acetylglucosaminyltransferase activity	IBA	molecular function
GO:0030311	poly-N-acetyllactosamine biosynthetic process	IBA	biological process
GO:0006493	protein O-linked glycosylation	IBA	biological process
GO:0008376	acetylgalactosaminyltransferase activity	IBA	molecular function
GO:0008532	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	IBA	molecular function
GO:0016758	transferase activity, transferring hexosyl groups	IBA	molecular function
GO:0006486	protein glycosylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0016266	O-glycan processing	TAS	biological process
GO:0018146	keratan sulfate biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa00533	Glycosaminoglycan biosynthesis - keratan sulfate

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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