• Gene id: 7368

Gene Summary

• Gene Symbol: UGT8   Gene   UCSC   Ensembl
• Aliases: CGT, UGT4
• Gene name: UDP glycosyltransferase 8
• Alternate names: 2-hydroxyacylsphingosine 1-beta-galactosyltransferase, UDP-galactose-ceramide galactosyltransferase, ceramide UDP-galactosyltransferase, cerebroside synthase, uridine diphosphate glycosyltransferase 8,
• Gene location: 4q26 (114598401: 114687913)     Exons: 10     NC_000004.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of
• OMIM: 609864

Protein Summary

• Protein general information: Q16880  
  • Name: 2 hydroxyacylsphingosine 1 beta galactosyltransferase (EC 2.4.1.47) (Ceramide UDP galactosyltransferase) (Cerebroside synthase) (UDP galactose ceramide galactosyltransferase)
  • Length: 541  
  • Mass: 61438
• Sequence:

  MKSYTPYFILLWSAVGIAKAAKIIIVPPIMFESHMYIFKTLASALHERGHHTVFLLSEGRDIAPSNHYSLQRYPG
  IFNSTTSDAFLQSKMRNIFSGRLTAIELFDILDHYTKNCDLMVGNHALIQGLKKEKFDLLLVDPNDMCGFVIAHL
  LGVKYAVFSTGLWYPAEVGAPAPLAYVPEFNSLLTDRMNLLQRMKNTGVYLISRLGVSFLVLPKYERIMQKYNLL
  PEKSMYDLVHGSSLWMLCTDVALEFPRPTLPNVVYVGGILTKPASPLPEDLQRWVNGANEHGFVLVSFGAGVKYL
  SEDIANKLAGALGRLPQKVIWRFSGPKPKNLGNNTKLIEWLPQNDLLGHSKIKAFLSHGGLNSIFETIYHGVPVV
  GIPLFGDHYDTMTRVQAKGMGILLEWKTVTEKELYEALVKVINNPSYRQRAQKLSEIHKDQPGHPVNRTIYWIDY
  IIRHNGAHHLRAAVHQISFCQYFLLDIAFVLLLGAALLYFLLSWVTKFIYRKIKSLWSRNKHSTVNGHYHNGILN
  GKYKRNGHIKHEKKVK

• Structural information:
  • Interpro: IPR002213  IPR035595  
  • Prosite: PS00375
  • STRING: ENSP00000311648
• Other Databases: GeneCards:  UGT8  Malacards:  UGT8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0008194	UDP-glycosyltransferase activity	IBA	molecular function
GO:0008194	UDP-glycosyltransferase activity	IEA	molecular function
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
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:0016020	membrane	IEA	cellular component
GO:0008489	UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	TAS	molecular function
GO:0007422	peripheral nervous system development	TAS	biological process
GO:0007417	central nervous system development	TAS	biological process
GO:0047263	N-acylsphingosine galactosyltransferase activity	IEA	molecular function
GO:0003851	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0047263	N-acylsphingosine galactosyltransferase activity	TAS	molecular function
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0002175	protein localization to paranode region of axon	IEA	biological process
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0008489	UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	IEA	molecular function
GO:0030913	paranodal junction assembly	IEA	biological process
GO:0048812	neuron projection morphogenesis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006682	galactosylceramide biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00600	Sphingolipid metabolism
hsa00565	Ether lipid metabolism

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray