• Gene id: 192134

Gene Summary

• Gene Symbol: B3GNT6   Gene   UCSC   Ensembl
• Aliases: B3Gn-T6, BGnT-6, beta-1,3-Gn-T6, beta3Gn-T6
• Gene name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6
• Alternate names: acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase, beta-1,3-N-acetylglucosaminyltransferase 6, beta-1,3-N-acetylglucosaminyltransferase protein, core 3 synthase,
• Gene location: 11q13.5 (77034397: 77041972)     Exons: 2     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene is a beta-1,3-N-acetylglucosaminyltransferase that adds an N-acetylglucosamine moiety to N-acetylgalactosamine-modified serine or threonine. The encoded enzyme is responsible for creating the core 3 structure of O-glycans,
• OMIM: 604264

Protein Summary

• Protein general information: Q6ZMB0  
  • Name: Acetylgalactosaminyl O glycosyl glycoprotein beta 1,3 N acetylglucosaminyltransferase (EC 2.4.1.147) (Core 3 synthase) (UDP GlcNAc:betaGal beta 1,3 N acetylglucosaminyltransferase 6) (BGnT 6) (Beta 1,3 Gn T6) (Beta 1,3 N acetylglucosaminyltransferase 6) (
  • Length: 384  
  • Mass: 42748
  • Tissue specificity: Present in stomach and colon (at protein level). Restricted in the stomach, colon and small intestine, where core 3 structure is present. {ECO
• Sequence:

  MAFPCRRSLTAKTLACLLVGVSFLALQQWFLQAPRSPREERSPQEETPEGPTDAPAADEPPSELVPGPPCVANAS
  ANATADFEQLPARIQDFLRYRHCRHFPLLWDAPAKCAGGRGVFLLLAVKSAPEHYERRELIRRTWGQERSYGGRP
  VRRLFLLGTPGPEDEARAERLAELVALEAREHGDVLQWAFADTFLNLTLKHLHLLDWLAARCPHARFLLSGDDDV
  FVHTANVVRFLQAQPPGRHLFSGQLMEGSVPIRDSWSKYFVPPQLFPGSAYPVYCSGGGFLLSGPTARALRAAAR
  HTPLFPIDDAYMGMCLERAGLAPSGHEGIRPFGVQLPGAQQSSFDPCMYRELLLVHRFAPYEMLLMWKALHSPAL
  SCDRGHRVS

• Structural information:
  • Interpro: IPR002659  
  • STRING: ENSP00000484640
• Other Databases: GeneCards:  B3GNT6  Malacards:  B3GNT6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030311	poly-N-acetyllactosamine biosynthetic process	IBA	biological process
GO:0008375	acetylglucosaminyltransferase activity	IBA	molecular function
GO:0006486	protein glycosylation	IBA	biological process
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0016758	transferase activity, transferring hexosyl groups	IBA	molecular function
GO:0008532	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	IBA	molecular function
GO:0008376	acetylgalactosaminyltransferase activity	IBA	molecular function
GO:0006493	protein O-linked glycosylation	IBA	biological process
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:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0047224	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0016266	O-glycan processing	TAS	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0008378	galactosyltransferase activity	IDA	molecular function
GO:0016020	membrane	NAS	cellular component
GO:0016269	O-glycan processing, core 3	NAS	biological process
GO:0009101	glycoprotein biosynthetic process	NAS	biological process
GO:0047223	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00512	Mucin type O-glycan biosynthesis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

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