• Gene id: 7357

Gene Summary

• Gene Symbol: UGCG   Gene   UCSC   Ensembl
• Aliases: GCS, GLCT1
• Gene name: UDP-glucose ceramide glucosyltransferase
• Alternate names: ceramide glucosyltransferase, UDP-glucose:N-acylsphingosine D-glucosyltransferase, glucosylceramide synthase,
• Gene location: 9q31.3 (111896765: 111935368)     Exons: 11     NC_000009.12
• Gene summary(Entrez): This gene encodes an enzyme that catalyzes the first glycosylation step in the biosynthesis of glycosphingolipids, which are membrane components containing lipid and sugar moieties. The product of this reaction is glucosylceramide, which is the core struc
• OMIM: 602933

Protein Summary

• Protein general information: Q16739  
  • Name: Ceramide glucosyltransferase (EC 2.4.1.80) (GLCT 1) (Glucosylceramide synthase) (GCS) (UDP glucose ceramide glucosyltransferase) (UDP glucose:N acylsphingosine D glucosyltransferase)
  • Length: 394  
  • Mass: 44854
  • Tissue specificity: Found in all tissues examined. {ECO
• Sequence:

  MALLDLALEGMAVFGFVLFLVLWLMHFMAIIYTRLHLNKKATDKQPYSKLPGVSLLKPLKGVDPNLINNLETFFE
  LDYPKYEVLLCVQDHDDPAIDVCKKLLGKYPNVDARLFIGGKKVGINPKINNLMPGYEVAKYDLIWICDSGIRVI
  PDTLTDMVNQMTEKVGLVHGLPYVADRQGFAATLEQVYFGTSHPRYYISANVTGFKCVTGMSCLMRKDVLDQAGG
  LIAFAQYIAEDYFMAKAIADRGWRFAMSTQVAMQNSGSYSISQFQSRMIRWTKLRINMLPATIICEPISECFVAS
  LIIGWAAHHVFRWDIMVFFMCHCLAWFIFDYIQLRGVQGGTLCFSKLDYAVAWFIRESMTIYIFLSALWDPTISW
  RTGRYRLRCGGTAEEILDV

• Structural information:
  • Interpro: IPR025993  IPR029044  
  • STRING: ENSP00000363397
• Other Databases: GeneCards:  UGCG  Malacards:  UGCG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IBA	cellular component
GO:0008120	ceramide glucosyltransferase activity	IBA	molecular function
GO:0006679	glucosylceramide biosynthetic process	IBA	biological process
GO:0000139	Golgi membrane	IDA	cellular component
GO:0006679	glucosylceramide biosynthetic process	IDA	biological process
GO:0008120	ceramide glucosyltransferase activity	IDA	molecular function
GO:0030154	cell differentiation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1903575	cornified envelope assembly	ISS	biological process
GO:0098856	intestinal lipid absorption	ISS	biological process
GO:0061436	establishment of skin barrier	ISS	biological process
GO:0048666	neuron development	ISS	biological process
GO:0030216	keratinocyte differentiation	ISS	biological process
GO:0006497	protein lipidation	ISS	biological process
GO:0033210	leptin-mediated signaling pathway	ISS	biological process
GO:0009966	regulation of signal transduction	ISS	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0008544	epidermis development	TAS	biological process
GO:0102769	dihydroceramide glucosyltransferase activity	IEA	molecular function
GO:0008120	ceramide glucosyltransferase activity	IEA	molecular function
GO:0008120	ceramide glucosyltransferase activity	TAS	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006497	protein lipidation	IEA	biological process
GO:0006679	glucosylceramide biosynthetic process	IEA	biological process
GO:0008120	ceramide glucosyltransferase activity	IEA	molecular function
GO:0009966	regulation of signal transduction	IEA	biological process
GO:0030216	keratinocyte differentiation	IEA	biological process
GO:0033210	leptin-mediated signaling pathway	IEA	biological process
GO:0048666	neuron development	IEA	biological process
GO:0061436	establishment of skin barrier	IEA	biological process
GO:0098856	intestinal lipid absorption	IEA	biological process
GO:1903575	cornified envelope assembly	IEA	biological process
GO:0008120	ceramide glucosyltransferase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00600	Sphingolipid metabolism

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray