• Gene id: 79369

Gene Summary

• Gene Symbol: B3GNT4   Gene   UCSC   Ensembl
• Aliases: B3GN-T4, beta3Gn-T4
• Gene name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4
• Alternate names: N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4, BGnT-4, beta-1,3-Gn-T4, beta-1,3-N-acetylglucosaminyltransferase 4, beta-1,3-N-acetylglucosaminyltransferase bGn-T4,
• Gene location: 12q24.31 (122203680: 122208951)     Exons: 3     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane

Protein Summary

• Protein general information: Q9C0J1  
  • Name: N acetyllactosaminide beta 1,3 N acetylglucosaminyltransferase 4 (EC 2.4.1.149) (UDP GlcNAc:betaGal beta 1,3 N acetylglucosaminyltransferase 4) (BGnT 4) (Beta 1,3 Gn T4) (Beta 1,3 N acetylglucosaminyltransferase 4) (Beta3Gn T4)
  • Length: 378  
  • Mass: 42310
  • Tissue specificity: Mainly expressed in brain tissues such as whole brain, hippocampus, amygdala, cerebellum and caudate nucleus. Also expressed in colon, esophagus and kidney. {ECO
• Sequence:

  MLPPQPSAAHQGRGGRSGLLPKGPAMLCRLCWLVSYSLAVLLLGCLLFLRKAAKPAGDPTAHQPFWAPPTPRHSR
  CPPNHTVSSASLSLPSRHRLFLTYRHCRNFSILLEPSGCSKDTFLLLAIKSQPGHVERRAAIRSTWGRVGGWARG
  RQLKLVFLLGVAGSAPPAQLLAYESREFDDILQWDFTEDFFNLTLKELHLQRWVVAACPQAHFMLKGDDDVFVHV
  PNVLEFLDGWDPAQDLLVGDVIRQALPNRNTKVKYFIPPSMYRATHYPPYAGGGGYVMSRATVRRLQAIMEDAEL
  FPIDDVFVGMCLRRLGLSPMHHAGFKTFGIRRPLDPLDPCLYRGLLLVHRLSPLEMWTMWALVTDEGLKCAAGPI
  PQR

• Structural information:
  • Interpro: IPR002659  
  • STRING: ENSP00000319636
• Other Databases: GeneCards:  B3GNT4  Malacards:  B3GNT4

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:0030311	poly-N-acetyllactosamine biosynthetic process	IDA	biological process
GO:0008532	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	IDA	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:0008532	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0008457	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity	IEA	molecular function
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:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00601	Glycosphingolipid biosynthesis - lacto and neolacto series

Diseases

Associated diseases	References
Male factor infertility	MIK: 29961538

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq