• Gene id: 10317

Gene Summary

• Gene Symbol: B3GALT5   Gene   UCSC   Ensembl
• Aliases: B3GalT-V, B3GalTx, B3T5, GLCT5, beta-1,3-GalTase 5, beta-3-Gx-T5, beta3Gal-T5
• Gene name: beta-1,3-galactosyltransferase 5
• Alternate names: beta-1,3-galactosyltransferase 5, UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5, UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 5, homolog of C. elegans Bt toxin resistance gene bre-5,
• Gene location: 21q22.2 (39612939: 39673136)     Exons: 7     NC_000021.9
• Gene summary(Entrez): This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants using multiple alter
• OMIM: 600353

Protein Summary

• Protein general information: Q9Y2C3  
  • Name: Beta 1,3 galactosyltransferase 5 (Beta 1,3 GalTase 5) (Beta3Gal T5) (Beta3GalT5) (b3Gal T5) (EC 2.4.1. ) (Beta 3 Gx T5) (UDP Gal:beta GlcNAc beta 1,3 galactosyltransferase 5) (UDP galactose:beta N acetylglucosamine beta 1,3 galactosyltransferase 5)
  • Length: 310  
  • Mass: 36189
  • Tissue specificity: Expressed in stomach, jejunum, colon, pancreas, small intestine, testis and gastrointestinal and pancreatic cancer cell lines. Hardly detected in lung, liver, adrenal gland and peripheral blood leukocytes. {ECO
• Sequence:

  MAFPKMRLMYICLLVLGALCLYFSMYSLNPFKEQSFVYKKDGNFLKLPDTDCRQTPPFLVLLVTSSHKQLAERMA
  IRQTWGKERMVKGKQLKTFFLLGTTSSAAETKEVDQESQRHGDIIQKDFLDVYYNLTLKTMMGIEWVHRFCPQAA
  FVMKTDSDMFINVDYLTELLLKKNRTTRFFTGFLKLNEFPIRQPFSKWFVSKSEYPWDRYPPFCSGTGYVFSGDV
  ASQVYNVSKSVPYIKLEDVFVGLCLERLNIRLEELHSQPTFFPGGLRFSVCLFRRIVACHFIKPRTLLDYWQALE
  NSRGEDCPPV

• Structural information:
  • Interpro: IPR002659  
  • STRING: ENSP00000381699
• Other Databases: GeneCards:  B3GALT5  Malacards:  B3GALT5

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: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: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: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:0008499	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	TAS	molecular function
GO:0006486	protein glycosylation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0005794	Golgi apparatus	HDA	cellular component
GO:0005783	endoplasmic reticulum	HDA	cellular component

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
pancreatic cancer	PMID:14555842
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R