• Gene id: 8703

Gene Summary

• Gene Symbol: B4GALT3   Gene   UCSC   Ensembl
• Aliases: beta4Gal-T3
• Gene name: beta-1,4-galactosyltransferase 3
• Alternate names: beta-1,4-galactosyltransferase 3, N-acetyllactosamine synthase, UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 3, UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3, UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 3, b4,
• Gene location: 1q23.3 (161185006: 161171309)     Exons: 9     NC_000001.11
• Gene summary(Entrez): This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to si
• OMIM: 604014

Protein Summary

• Protein general information: O60512  
  • Name: Beta 1,4 galactosyltransferase 3 (Beta 1,4 GalTase 3) (Beta4Gal T3) (b4Gal T3) (EC 2.4.1. ) (Beta N acetylglucosaminyl glycolipid beta 1,4 galactosyltransferase) (Beta N acetylglucosaminylglycopeptide beta 1,4 galactosyltransferase) (EC 2.4.1.38) (N acety
  • Length: 393  
  • Mass: 43928
  • Tissue specificity: Found in various tissues. Highest expression in placenta, prostate, testis, ovary, intestine and muscle, and in fetal brain. {ECO
• Sequence:

  MLRRLLERPCTLALLVGSQLAVMMYLSLGGFRSLSALFGRDQGPTFDYSHPRDVYSNLSHLPGAPGGPPAPQGLP
  YCPERSPLLVGPVSVSFSPVPSLAEIVERNPRVEPGGRYRPAGCEPRSRTAIIVPHRAREHHLRLLLYHLHPFLQ
  RQQLAYGIYVIHQAGNGTFNRAKLLNVGVREALRDEEWDCLFLHDVDLLPENDHNLYVCDPRGPRHVAVAMNKFG
  YSLPYPQYFGGVSALTPDQYLKMNGFPNEYWGWGGEDDDIATRVRLAGMKISRPPTSVGHYKMVKHRGDKGNEEN
  PHRFDLLVRTQNSWTQDGMNSLTYQLLARELGPLYTNITADIGTDPRGPRAPSGPRYPPGSSQAFRQEMLQRRPP
  ARPGPLSTANHTALRGSH

• Structural information:
  • Interpro: IPR003859  IPR027791  IPR027995  IPR029044  
  • STRING: ENSP00000480428
• Other Databases: GeneCards:  B4GALT3  Malacards:  B4GALT3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
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:0008378	galactosyltransferase activity	TAS	molecular function
GO:0003945	N-acetyllactosamine synthase activity	IEA	molecular function
GO:0003831	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	IEA	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0018146	keratan sulfate biosynthetic process	TAS	biological process
GO:0008378	galactosyltransferase activity	IDA	molecular function
GO:0006682	galactosylceramide biosynthetic process	IDA	biological process
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00510	N-Glycan biosynthesis
hsa00514	Other types of O-glycan biosynthesis
hsa00513	Various types of N-glycan biosynthesis
hsa00601	Glycosphingolipid biosynthesis - lacto and neolacto series
hsa00515	Mannose type O-glycan biosynthesis
hsa00533	Glycosaminoglycan biosynthesis - keratan sulfate

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881