• Gene id: 8708

Gene Summary

• Gene Symbol: B3GALT1   Gene   UCSC   Ensembl
• Aliases: beta3Gal-T1
• Gene name: beta-1,3-galactosyltransferase 1
• Alternate names: beta-1,3-galactosyltransferase 1, UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1, UDP-galactose:beta-N-acetyl-glucosamine-beta-1,3-galactosyltransferase 1, beta-1,3-GalTase 1, beta3GalT1,
• Gene location: 2q24.3 (167293059: 167870855)     Exons: 1     NC_000002.12
• Gene summary(Entrez): This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and
• OMIM: 603093

SNPs

rs7867029

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.78405502G>C
NC_000009.11   g.81020418G>C|SEQ=[G/C]|GENE=LOC107987083

Protein Summary

• Protein general information: Q9Y5Z6  
  • Name: Beta 1,3 galactosyltransferase 1 (Beta 1,3 GalTase 1) (Beta3Gal T1) (Beta3GalT1) (EC 2.4.1.86) (UDP galactose:beta N acetyl glucosamine beta 1,3 galactosyltransferase 1)
  • Length: 326  
  • Mass: 37993
  • Tissue specificity: Detected in brain and colon mucosa and to a lesser extent in colon adenocarcinoma cells. {ECO
• Sequence:

  MASKVSCLYVLTVVCWASALWYLSITRPTSSYTGSKPFSHLTVARKNFTFGNIRTRPINPHSFEFLINEPNKCEK
  NIPFLVILISTTHKEFDARQAIRETWGDENNFKGIKIATLFLLGKNADPVLNQMVEQESQIFHDIIVEDFIDSYH
  NLTLKTLMGMRWVATFCSKAKYVMKTDSDIFVNMDNLIYKLLKPSTKPRRRYFTGYVINGGPIRDVRSKWYMPRD
  LYPDSNYPPFCSGTGYIFSADVAELIYKTSLHTRLLHLEDVYVGLCLRKLGIHPFQNSGFNHWKMAYSLCRYRRV
  ITVHQISPEEMHRIWNDMSSKKHLRC

• Structural information:
  • Interpro: IPR002659  IPR029044  
  • STRING: ENSP00000376456
• Other Databases: GeneCards:  B3GALT1  Malacards:  B3GALT1

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0009312	oligosaccharide biosynthetic process	IBA	biological process
GO:0008499	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	IBA	molecular function
GO:0008376	acetylgalactosaminyltransferase activity	IBA	molecular function
GO:0006493	protein O-linked glycosylation	IBA	biological process
GO:0006487	protein N-linked glycosylation	IBA	biological process
GO:0006486	protein glycosylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
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:0047275	glucosaminylgalactosylglucosylceramide beta-galactosyltransferase activity	IEA	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0008499	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	IEA	molecular function
GO:0009312	oligosaccharide biosynthetic process	IEA	biological process
GO:0006682	galactosylceramide biosynthetic process	IDA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0008499	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	IDA	molecular function
GO:0030259	lipid glycosylation	IDA	biological process
GO:0009312	oligosaccharide biosynthetic process	IDA	biological process
GO:0016021	integral component of membrane	NAS	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)