Ugcg UDP-glucose ceramide glucosyltransferase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ugcgprovided by MGI
Official Full Name: UDP-glucose ceramide glucosyltransferaseprovided by MGI
Primary source: MGI:MGI:1332243
See related: Ensembl:ENSMUSG00000028381 AllianceGenome:MGI:1332243
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ugcgl; Epcs21; GlcT-1
Summary: Enables ceramide glucosyltransferase activity. Involved in several processes, including cornified envelope assembly; glucosylceramide biosynthetic process; and skin development. Predicted to be located in Golgi membrane. Predicted to be integral component of membrane. Predicted to be active in membrane. Is expressed in several structures, including blastocyst; brain; early embryo; liver; and oocyte. Orthologous to human UGCG (UDP-glucose ceramide glucosyltransferase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E18 (RPKM 20.2), whole brain E14.5 (RPKM 18.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 32.44 cM; 4 B3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (59189452..59222833)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (59189507..59222833)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ligand Activation of the Aryl Hydrocarbon Receptor Upregulates Epidermal Uridine Diphosphate Glucose Ceramide Glucosyltransferase and Glucosylceramides.
Title: Ligand Activation of the Aryl Hydrocarbon Receptor Upregulates Epidermal Uridine Diphosphate Glucose Ceramide Glucosyltransferase and Glucosylceramides.
Glucosylceramide in T cells regulates the pathology of inflammatory bowel disease.
Title: Glucosylceramide in T cells regulates the pathology of inflammatory bowel disease.
Crucial role of glucosylceramide synthase in the regulation of stem cell-like cancer cells in B16F10 murine melanoma.
Title: Crucial role of glucosylceramide synthase in the regulation of stem cell-like cancer cells in B16F10 murine melanoma.
The cell division gene PCNA was significantly overexpressed in SK2(-/-) cells, suggesting a cross regulation between sphingosine kinases and Ceramide glucosyltransferase.
Title: The cross roles of sphingosine kinase 1/2 and ceramide glucosyltransferase in cell growth and death.
we report the development of a novel, orally available glucosylceramide synthase inhibitor (Genz-682452) with pharmacological and safety profiles that have potential for treating Fabry disease.
Title: Efficacy of Enzyme and Substrate Reduction Therapy with a Novel Antagonist of Glucosylceramide Synthase for Fabry Disease.
These results suggest that neuronal glucosylceramide synthase expression modulates mediobasal hypothalamus insulin signaling and white adipose tissue function in fasted mice.
Title: Fasting-Induced Lipolysis and Hypothalamic Insulin Signaling Are Regulated by Neuronal Glucosylceramide Synthase.
we measured the expression and activities of Pgp and GCS, UDP-glucose levels, cellular uptake of C12-NBD-ceramide (a fluorescent analogue of ceramide) and ceramide-induced cell death in S and R cells.
Title: Reduced UDP-glucose Levels Are Associated with P-glycoprotein Over-expression in L1210 Cells and Limit Glucosylceramide Synthase Activity.
Data indicate that verexpression of glucosylceramide synthase in myotubes induces glucosylceramide but enhances insulin signaling.
Title: Ceramides and glucosylceramides are independent antagonists of insulin signaling.
Data indicate that mice fed D- threo-1-phenyl-2-decanoylamino-3-morpholino-1-propanol (D-PDMP), an inhibitor of glucosylceramide synthase and lactosylceramide synthase showed marked reduction in tumor volume.
Title: Use of a glycolipid inhibitor to ameliorate renal cancer in a mouse model.
The present work demonstrates that hypothalamic integration of metabolic signals requires neuronal expression of glucosylceramide synthase (GCS; UDP-glucose:ceramide glucosyltransferase).
Title: Neuronal expression of glucosylceramide synthase in central nervous system regulates body weight and energy homeostasis.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (6) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126942 (e-PCR)
- UniSTS:207622

AU043821 (e-PCR)
- UniSTS:159245

D89866 (e-PCR)
- UniSTS:159247

PMC17746P1 (e-PCR)
- UniSTS:271646

Ugcg (e-PCR), detects polymorphism
- UniSTS:508026

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ceramide glucosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ceramide glucosyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ceramide glucosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables dihydroceramide glucosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables glycosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cornified envelope assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of skin barrier	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glucosylceramide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glucosylceramide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glucosylceramide biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in intestinal lipid absorption	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in keratinocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in leptin-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein lipidation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sphingolipid metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ceramide glucosyltransferase

Names: GCS; UDP-glucose:N-acylsphingosine D-glucosyltransferase; ectoplacental cone, invasive trophoblast giant cells, extraembryonic ectoderm and chorion sequence 21; glucosylceramide synthase; glycosylceramide synthase

NP_035803.1

EC 2.4.1.80

XP_006537848.1

EC 2.4.1.80

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_011673.3 → NP_035803.1 ceramide glucosyltransferase

See identical proteins and their annotated locations for NP_035803.1

Status: PROVISIONAL

Source sequence(s)

AL808112

Consensus CDS

CCDS18219.1

UniProtKB/Swiss-Prot

A2AN90, O88693

Related

ENSMUSP00000030074.8, ENSMUST00000030074.8

Conserved Domains (1) summary

cd02520
Location:51 → 280

Glucosylceramide_synthase; Glucosylceramide synthase catalyzes the first glycosylation step of glycosphingolipid synthesis

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

59189452..59222833

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006537785.5 → XP_006537848.1 ceramide glucosyltransferase isoform X1

Conserved Domains (1) summary

cd02520
Location:51 → 284

Glucosylceramide_synthase; Glucosylceramide synthase catalyzes the first glycosylation step of glycosphingolipid synthesis