• Gene id: 9331

Gene Summary

• Gene Symbol: B4GALT6   Gene   UCSC   Ensembl
• Aliases: B4Gal-T6, beta4Gal-T6
• Gene name: beta-1,4-galactosyltransferase 6
• Alternate names: beta-1,4-galactosyltransferase 6, UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 6, UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6, UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase, UDP-galactose:beta-N-acetylglucosamine beta-1,4,
• Gene location: 18q12.1 (31724669: 31622245)     Exons: 13     NC_000018.10
• Gene summary(Entrez): This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes in human. 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 link
• OMIM: 604017

Protein Summary

• Protein general information: Q9UBX8  
  • Name: Beta 1,4 galactosyltransferase 6 (Beta 1,4 GalTase 6) (Beta4Gal T6) (b4Gal T6) (EC 2.4.1. ) (Glucosylceramide beta 1,4 galactosyltransferase) (EC 2.4.1.274) (Lactosylceramide synthase) (LacCer synthase) (UDP Gal:beta GlcNAc beta 1,4 galactosyltransferase
  • Length: 382  
  • Mass: 44914
  • Tissue specificity: High expression in brain and adrenal gland, lower in liver, lung, colon and peripheral white blood cells.
• Sequence:

  MSVLRRMMRVSNRSLLAFIFFFSLSSSCLYFIYVAPGIANTYLFMVQARGIMLRENVKTIGHMIRLYTNKNSTLN
  GTDYPEGNNSSDYLVQTTTYLPENFTYSPYLPCPEKLPYMRGFLNVNVSEVSFDEIHQLFSKDLDIEPGGHWRPK
  DCKPRWKVAVLIPFRNRHEHLPIFFLHLIPMLQKQRLEFAFYVIEQTGTQPFNRAMLFNVGFKEAMKDSVWDCVI
  FHDVDHLPENDRNYYGCGEMPRHFAAKLDKYMYILPYKEFFGGVSGLTVEQFRKINGFPNAFWGWGGEDDDLWNR
  VHYAGYNVTRPEGDLGKYKSIPHHHRGEVQFLGRYKLLRYSKERQYIDGLNNLIYRPKILVDRLYTNISVNLMPE
  LAPIEDY

• Structural information:
  • Interpro: IPR003859  IPR027791  IPR027995  IPR029044  
  • STRING: ENSP00000306459
• Other Databases: GeneCards:  B4GALT6  Malacards:  B4GALT6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008489	UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	ISS	molecular function
GO:0042551	neuron maturation	ISS	biological process
GO:0010706	ganglioside biosynthetic process via lactosylceramide	ISS	biological process
GO:0008489	UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	IMP	molecular function
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:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	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:0018146	keratan sulfate biosynthetic process	TAS	biological process
GO:0022010	central nervous system myelination	IEA	biological process
GO:0021955	central nervous system neuron axonogenesis	IEA	biological process
GO:0042551	neuron maturation	IEA	biological process
GO:0010706	ganglioside biosynthetic process via lactosylceramide	IEA	biological process
GO:0008489	UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	IEA	molecular function
GO:0008378	galactosyltransferase activity	IDA	molecular function
GO:0001572	lactosylceramide biosynthetic process	IDA	biological process
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00600	Sphingolipid metabolism

Diseases

Associated diseases	References
Multiple sclerosis	PMID:25216636
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			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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq