• Gene id: 9334

Gene Summary

• Gene Symbol: B4GALT5   Gene   UCSC   Ensembl
• Aliases: B4Gal-T5, BETA4-GALT-IV, beta4Gal-T5, beta4GalT-V, gt-V
• Gene name: beta-1,4-galactosyltransferase 5
• Alternate names: beta-1,4-galactosyltransferase 5, UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 5, UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 5, UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 5, beta-1,4-GalT II, beta-1,4-GalT I,
• Gene location: 20q13.13 (49713877: 49632944)     Exons: 9     NC_000020.11
• Gene summary(Entrez): This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to si
• OMIM: 608206

Protein Summary

• Protein general information: O43286  
  • Name: Beta 1,4 galactosyltransferase 5 (Beta 1,4 GalTase 5) (Beta4Gal T5) (b4Gal T5) (EC 2.4.1. ) (Beta 1,4 GalT II) (Glucosylceramide beta 1,4 galactosyltransferase) (EC 2.4.1.274) (Lactosylceramide synthase) (LacCer synthase) (UDP Gal:beta GlcNAc beta 1,4 gal
  • Length: 388  
  • Mass: 45119
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MRARRGLLRLPRRSLLAALFFFSLSSSLLYFVYVAPGIVNTYLFMMQAQGILIRDNVRTIGAQVYEQVLRSAYAK
  RNSSVNDSDYPLDLNHSETFLQTTTFLPEDFTYFANHTCPERLPSMKGPIDINMSEIGMDYIHELFSKDPTIKLG
  GHWKPSDCMPRWKVAILIPFRNRHEHLPVLFRHLLPMLQRQRLQFAFYVVEQVGTQPFNRAMLFNVGFQEAMKDL
  DWDCLIFHDVDHIPESDRNYYGCGQMPRHFATKLDKYMYLLPYTEFFGGVSGLTVEQFRKINGFPNAFWGWGGED
  DDLWNRVQNAGYSVSRPEGDTGKYKSIPHHHRGEVQFLGRYALLRKSKERQGLDGLNNLNYFANITYDALYKNIT
  VNLTPELAQVNEY

• Structural information:
  • Interpro: IPR003859  IPR027791  IPR027995  IPR029044  
  • STRING: ENSP00000360776
• Other Databases: GeneCards:  B4GALT5  Malacards:  B4GALT5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042551	neuron maturation	ISS	biological process
GO:0040019	positive regulation of embryonic development	ISS	biological process
GO:0010706	ganglioside biosynthetic process via lactosylceramide	ISS	biological process
GO:0006486	protein glycosylation	ISS	biological process
GO:0008489	UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	IMP	molecular function
GO:0031647	regulation of protein stability	ISS	biological process
GO:0022010	central nervous system myelination	ISS	biological process
GO:0021955	central nervous system neuron axonogenesis	ISS	biological process
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008378	galactosyltransferase activity	TAS	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0016266	O-glycan processing	TAS	biological process
GO:0018146	keratan sulfate biosynthetic process	TAS	biological process
GO:0003945	N-acetyllactosamine synthase activity	IEA	molecular function
GO:0021955	central nervous system neuron axonogenesis	IEA	biological process
GO:0022010	central nervous system myelination	IEA	biological process
GO:0031647	regulation of protein stability	IEA	biological process
GO:0006486	protein glycosylation	IEA	biological process
GO:0008489	UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	IEA	molecular function
GO:0010706	ganglioside biosynthetic process via lactosylceramide	IEA	biological process
GO:0030311	poly-N-acetyllactosamine biosynthetic process	IEA	biological process
GO:0040019	positive regulation of embryonic development	IEA	biological process
GO:0042551	neuron maturation	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0042551	neuron maturation	ISS	biological process
GO:0040019	positive regulation of embryonic development	ISS	biological process
GO:0010706	ganglioside biosynthetic process via lactosylceramide	ISS	biological process
GO:0006486	protein glycosylation	ISS	biological process
GO:0008489	UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	IMP	molecular function
GO:0031647	regulation of protein stability	ISS	biological process
GO:0022010	central nervous system myelination	ISS	biological process
GO:0021955	central nervous system neuron axonogenesis	ISS	biological process
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008378	galactosyltransferase activity	TAS	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0016266	O-glycan processing	TAS	biological process
GO:0018146	keratan sulfate biosynthetic process	TAS	biological process
GO:0003945	N-acetyllactosamine synthase activity	IEA	molecular function
GO:0021955	central nervous system neuron axonogenesis	IEA	biological process
GO:0022010	central nervous system myelination	IEA	biological process
GO:0031647	regulation of protein stability	IEA	biological process
GO:0006486	protein glycosylation	IEA	biological process
GO:0008489	UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	IEA	molecular function
GO:0010706	ganglioside biosynthetic process via lactosylceramide	IEA	biological process
GO:0030311	poly-N-acetyllactosamine biosynthetic process	IEA	biological process
GO:0040019	positive regulation of embryonic development	IEA	biological process
GO:0042551	neuron maturation	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00512	Mucin type O-glycan biosynthesis

Diseases

Associated diseases	References
Multiple sclerosis	PMID:25216636
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
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