• Gene id: 84002

Gene Summary

• Gene Symbol: B3GNT5   Gene   UCSC   Ensembl
• Aliases: B3GN-T5, beta3Gn-T5
• Gene name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5
• Alternate names: lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase, BGnT-5, UDP-GlcNAc:beta-Gal beta-1,3-N-acetylglucosaminyltransferase 5, beta 1,3 N-acetyglucosaminyltransferase Lc3 synthase, beta-1,3-Gn-T5, beta-1,3-N-acetylglucosaminyltransferase 5, beta-1,3-N-ac,
• Gene location: 3q27.1 (183253206: 183273390)     Exons: 8     NC_000003.12
• Gene summary(Entrez): This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II membrane protein. It exhibits strong activity to transfer GlcNAc to glycolipid substrates and is identified as the most likely candidate for lactot
• OMIM: 0

Protein Summary

• Protein general information: Q9BYG0  
  • Name: Lactosylceramide 1,3 N acetyl beta D glucosaminyltransferase (EC 2.4.1.206) (Lactotriaosylceramide synthase) (Lc(3)Cer synthase) (Lc3 synthase) (UDP GlcNAc:beta Gal beta 1,3 N acetylglucosaminyltransferase 5) (BGnT 5) (Beta 1,3 Gn T5) (Beta 1,3 N acetylgl
  • Length: 378  
  • Mass: 44053
  • Tissue specificity: Widely expressed. Highly expressed in lung, colon, placenta, testis, pituitary gland and cerebellum. Weakly expressed in brain, liver, spleen, lymph node and thymus. {ECO
• Sequence:

  MRMLVSGRRVKKWQLIIQLFATCFLASLMFFWEPIDNHIVSHMKSYSYRYLINSYDFVNDTLSLKHTSAGPRYQY
  LINHKEKCQAQDVLLLLFVKTAPENYDRRSGIRRTWGNENYVRSQLNANIKTLFALGTPNPLEGEELQRKLAWED
  QRYNDIIQQDFVDSFYNLTLKLLMQFSWANTYCPHAKFLMTADDDIFIHMPNLIEYLQSLEQIGVQDFWIGRVHR
  GAPPIRDKSSKYYVSYEMYQWPAYPDYTAGAAYVISGDVAAKVYEASQTLNSSLYIDDVFMGLCANKIGIVPQDH
  VFFSGEGKTPYHPCIYEKMMTSHGHLEDLQDLWKNATDPKVKTISKGFFGQIYCRLMKIILLCKISYVDTYPCRA
  AFI

• Structural information:
  • Interpro: IPR002659  
  • STRING: ENSP00000316173
• Other Databases: GeneCards:  B3GNT5  Malacards:  B3GNT5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030311	poly-N-acetyllactosamine biosynthetic process	IBA	biological process
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:0008532	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	IBA	molecular function
GO:0008457	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity	IBA	molecular function
GO:0008376	acetylgalactosaminyltransferase activity	IBA	molecular function
GO:0007420	brain development	IBA	biological process
GO:0006493	protein O-linked glycosylation	IBA	biological process
GO:0006486	protein glycosylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
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:0047256	lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity	IEA	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0016266	O-glycan processing	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007420	brain development	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0007417	central nervous system development	IDA	biological process
GO:0008457	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity	IDA	molecular function
GO:0009247	glycolipid biosynthetic process	TAS	biological process
GO:0006486	protein glycosylation	TAS	biological process

KEGG pathways

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

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R