UGCG UDP-glucose ceramide glucosyltransferase [Homo sapiens (human)] - Gene

Summary

Official Symbol: UGCGprovided by HGNC
Official Full Name: UDP-glucose ceramide glucosyltransferaseprovided by HGNC
Primary source: HGNC:HGNC:12524
See related: Ensembl:ENSG00000148154 MIM:602874; AllianceGenome:HGNC:12524
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GCS; GLCT1
Summary: 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 structure of many glycosphingolipids. [provided by RefSeq, Dec 2014]
Expression: Ubiquitous expression in bone marrow (RPKM 38.2), adrenal (RPKM 32.9) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q31.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (111896814..111935369)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (124068161..124106716)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (114659094..114697649)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Peripheral Upregulation of Parkinson's Disease-Associated Genes Encoding alpha-Synuclein, beta-Glucocerebrosidase, and Ceramide Glucosyltransferase in Major Depression.
Title: Peripheral Upregulation of Parkinson's Disease-Associated Genes Encoding α-Synuclein, β-Glucocerebrosidase, and Ceramide Glucosyltransferase in Major Depression.
Targeting glucosylceramide synthase induces antiproliferative and proapoptotic effects in osimertinib-resistant NSCLC cell models.
Title: Targeting glucosylceramide synthase induces antiproliferative and proapoptotic effects in osimertinib-resistant NSCLC cell models.
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.
UDP-Glucose Ceramide Glycosyltransferase Contributes to the Proliferation and Glycolysis of Cervical Cancer Cells by Regulating the PI3K/AKT Pathway.
Title: UDP-Glucose Ceramide Glycosyltransferase Contributes to the Proliferation and Glycolysis of Cervical Cancer Cells by Regulating the PI3K/AKT Pathway.
beta-Sitosterol 3-O-D-glucoside increases ceramide levels in the stratum corneum via the up-regulated expression of ceramide synthase-3 and glucosylceramide synthase in a reconstructed human epidermal keratinization model.
Title: β-Sitosterol 3-O-D-glucoside increases ceramide levels in the stratum corneum via the up-regulated expression of ceramide synthase-3 and glucosylceramide synthase in a reconstructed human epidermal keratinization model.
Tyrosine-phosphorylation and activation of glucosylceramide synthase by v-Src: Its role in survival of HeLa cells against ceramide.
Title: Tyrosine-phosphorylation and activation of glucosylceramide synthase by v-Src: Its role in survival of HeLa cells against ceramide.
UGCG overexpression leads to increased glycolysis and increased oxidative phosphorylation of breast cancer cells.
Title: UGCG overexpression leads to increased glycolysis and increased oxidative phosphorylation of breast cancer cells.
UGCG influences glutamine metabolism of breast cancer cells.
Title: UGCG influences glutamine metabolism of breast cancer cells.
the GCS inhibitor lucerastat provides a viable mechanism to reduce Gb3 accumulation and lysosome volume, suitable for all Fabry patients regardless of genotype
Title: Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.

Submit: New GeneRIF Correction See all GeneRIFs (44)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH103739 (e-PCR)
- UniSTS:98064

RH11495 (e-PCR)
- UniSTS:55861

RH68280 (e-PCR)
- UniSTS:74694

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ceramide glucosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ceramide glucosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables ceramide glucosyltransferase activity	TAS Traceable Author Statement more info
enables dihydroceramide glucosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cornified envelope assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in epidermis development	TAS Traceable Author Statement more info	PubMed
involved_in establishment of skin barrier	ISS Inferred from Sequence or Structural Similarity more info
involved_in glucosylceramide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glucosylceramide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glycosphingolipid biosynthetic process	TAS Traceable Author Statement more info
involved_in intestinal lipid absorption	ISS Inferred from Sequence or Structural Similarity more info
involved_in keratinocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in leptin-mediated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron development	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein lipidation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of signal transduction	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ceramide glucosyltransferase

Names: UDP-glucose:N-acylsphingosine D-glucosyltransferase; glucosylceramide synthase; glycosylceramide synthase

NP_003349.1

EC 2.4.1.80

XP_016870596.1

EC 2.4.1.80

XP_047279800.1

EC 2.4.1.80

XP_054219720.1

EC 2.4.1.80

XP_054219721.1

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.