• Gene id: 8706

Gene Summary

• Gene Symbol: B3GALNT1   Gene   UCSC   Ensembl
• Aliases: B3GALT3, GLCT3, GLOB, Gb4Cer, P, P1, beta3Gal-T3, galT3
• Gene name: beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
• Alternate names: UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1, P antigen synthase, P blood group globoside, UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group), UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypepti,
• Gene location: 3q26.1 (138543235: 138506092)     Exons: 13     NC_000005.10
• 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: 603094

Protein Summary

• Protein general information: O75752  
  • Name: UDP GalNAc:beta 1,3 N acetylgalactosaminyltransferase 1 (Beta 1,3 GalNAc T1) (EC 2.4.1.79) (Beta 1,3 galactosyltransferase 3) (Beta 1,3 GalTase 3) (Beta3Gal T3) (Beta3GalT3) (b3Gal T3) (Beta 3 Gx T3) (Galactosylgalactosylglucosylceramide beta D acetyl gal
  • Length: 331  
  • Mass: 39512
  • Tissue specificity: Higher expression in heart and brain, and to a lesser extent in lung, placenta, kidney and testis. Lower expression in liver, spleen and stomach. No expression in skeletal muscle. {ECO
• Sequence:

  MASALWTVLPSRMSLRSLKWSLLLLSLLSFFVMWYLSLPHYNVIERVNWMYFYEYEPIYRQDFHFTLREHSNCSH
  QNPFLVILVTSHPSDVKARQAIRVTWGEKKSWWGYEVLTFFLLGQEAEKEDKMLALSLEDEHLLYGDIIRQDFLD
  TYNNLTLKTIMAFRWVTEFCPNAKYVMKTDTDVFINTGNLVKYLLNLNHSEKFFTGYPLIDNYSYRGFYQKTHIS
  YQEYPFKVFPPYCSGLGYIMSRDLVPRIYEMMGHVKPIKFEDVYVGICLNLLKVNIHIPEDTNLFFLYRIHLDVC
  QLRRVIAAHGFSSKEIITFWQVMLRNTTCHY

• Structural information:
  • Interpro: IPR002659  
  • STRING: ENSP00000376532
• Other Databases: GeneCards:  B3GALNT1  Malacards:  B3GALNT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006487	protein N-linked glycosylation	IBA	biological process
GO:0006493	protein O-linked glycosylation	IBA	biological process
GO:0008376	acetylgalactosaminyltransferase activity	IBA	molecular function
GO:0008499	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	IBA	molecular function
GO:0009312	oligosaccharide biosynthetic process	IBA	biological process
GO:0016758	transferase activity, transferring hexosyl groups	IBA	molecular function
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: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:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0047273	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0047273	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity	TAS	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0009312	oligosaccharide biosynthetic process	IEA	biological process
GO:0008499	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	IEA	molecular function
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
hsa00603	Glycosphingolipid biosynthesis - globo and isoglobo series

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