• Gene id: 145173

Gene Summary

• Gene Symbol: B3GLCT   Gene   UCSC   Ensembl
• Aliases: B3GALTL, B3GTL, B3Glc-T, Gal-T, beta3Glc-T
• Gene name: beta 3-glucosyltransferase
• Alternate names: beta-1,3-glucosyltransferase, UDP-GAL:beta-GlcNAc beta-1,3-galactosyltransferase-like, beta 1,3-galactosyltransferase-like, beta 3-glycosyltransferase-like,
• Gene location: 13q12.3 (68932609: 68731763)     Exons: 6     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a
• OMIM: 610308

Protein Summary

• Protein general information: Q6Y288  
  • Name: Beta 1,3 glucosyltransferase (Beta3Glc T) (EC 2.4.1. ) (Beta 3 glucosyltransferase) (Beta 3 glycosyltransferase like)
  • Length: 498  
  • Mass: 56564
  • Tissue specificity: Widely expressed, with highest levels in testis and uterus. {ECO
• Sequence:

  MRPPACWWLLAPPALLALLTCSLAFGLASEDTKKEVKQSQDLEKSGISRKNDIDLKGIVFVIQSQSNSFHAKRAE
  QLKKSILKQAADLTQELPSVLLLHQLAKQEGAWTILPLLPHFSVTYSRNSSWIFFCEEETRIQIPKLLETLRRYD
  PSKEWFLGKALHDEEATIIHHYAFSENPTVFKYPDFAAGWALSIPLVNKLTKRLKSESLKSDFTIDLKHEIALYI
  WDKGGGPPLTPVPEFCTNDVDFYCATTFHSFLPLCRKPVKKKDIFVAVKTCKKFHGDRIPIVKQTWESQASLIEY
  YSDYTENSIPTVDLGIPNTDRGHCGKTFAILERFLNRSQDKTAWLVIVDDDTLISISRLQHLLSCYDSGEPVFLG
  ERYGYGLGTGGYSYITGGGGMVFSREAVRRLLASKCRCYSNDAPDDMVLGMCFSGLGIPVTHSPLFHQARPVDYP
  KDYLSHQVPISFHKHWNIDPVKVYFTWLAPSDEDKARQETQKGFREEL

• Structural information:
  • Interpro: IPR003378  IPR029044  
  • Prosite: PS00014
  • STRING: ENSP00000343002
• Other Databases: GeneCards:  B3GLCT  Malacards:  B3GLCT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008375	acetylglucosaminyltransferase activity	IBA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0005783	endoplasmic reticulum	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:0006004	fucose metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	TAS	molecular function
GO:0036066	protein O-linked fucosylation	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa00514	Other types of O-glycan biosynthesis

Diseases

Associated diseases	References
Peters anomaly	KEGG:H01075
Peters anomaly	KEGG:H01075
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq