Free for academic non-profit institutions. Other users need a Commercial license

Aliases for UGCG Gene

Aliases for UGCG Gene

  • UDP-Glucose Ceramide Glucosyltransferase 2 3 4 5
  • Glucosylceramide Synthase 2 3 4
  • UDP-Glucose:N-Acylsphingosine D-Glucosyltransferase 3 4
  • Ceramide Glucosyltransferase 2 3
  • GCS 3 4
  • EC 2.4.1.80 4
  • GLCT-1 4
  • GLCT1 3

External Ids for UGCG Gene

Previous GeneCards Identifiers for UGCG Gene

  • GC09P105457
  • GC09P106391
  • GC09P108116
  • GC09P110039
  • GC09P111738
  • GC09P113698
  • GC09P114659
  • GC09P084257

Summaries for UGCG Gene

Entrez Gene Summary for UGCG Gene

  • 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]

GeneCards Summary for UGCG Gene

UGCG (UDP-Glucose Ceramide Glucosyltransferase) is a Protein Coding gene. Diseases associated with UGCG include Sandhoff Disease and Gaucher's Disease. Among its related pathways are Metabolism and IL2 signaling events mediated by PI3K. Gene Ontology (GO) annotations related to this gene include ceramide glucosyltransferase activity.

UniProtKB/Swiss-Prot for UGCG Gene

  • Catalyzes the first glycosylation step in glycosphingolipid biosynthesis, the transfer of glucose to ceramide. May also serve as a "flippase".

Gene Wiki entry for UGCG Gene

Additional gene information for UGCG Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UGCG Gene

Genomics for UGCG Gene

GeneHancer (GH) Regulatory Elements for UGCG Gene

Promoters and enhancers for UGCG Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I111895 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 550.8 +3.6 3583 10.5 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 UGCG RNU6-1013P GNG10 ENSG00000224067 C9orf84 PTGR1 MIR4668
GH09I112749 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.1 +854.1 854110 2.7 HDGF PKNOX1 SMAD1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ENSG00000226609 SNX30 PRPF4 PTBP3 FKBP15 UGCG ENSG00000271631 PIR49803
GH09I112376 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.1 +482.6 482579 4.8 HDGF PKNOX1 CLOCK SMAD1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 HSDL2 GC09M112376 PTBP3 PRPF4 UGCG FKBP15 SUSD1 RPL32P22
GH09I111923 Enhancer 1.2 Ensembl ENCODE dbSUPER 18 +30.7 30676 7.1 PKNOX1 BMI1 BATF IRF4 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 RXRA UGCG GNG10 MIR4668
GH09I111972 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.3 +77.5 77484 3.8 PKNOX1 FOXA2 INSM2 ARID4B MZF1 FEZF1 ZNF2 RAD21 ZNF213 RXRA UGCG RNU6-710P RNU6-1013P MIR4668
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UGCG on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UGCG gene promoter:

Genomic Locations for UGCG Gene

Genomic Locations for UGCG Gene
chr9:111,896,766-111,935,374
(GRCh38/hg38)
Size:
38,609 bases
Orientation:
Plus strand
chr9:114,659,046-114,697,649
(GRCh37/hg19)

Genomic View for UGCG Gene

Genes around UGCG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UGCG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UGCG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UGCG Gene

Proteins for UGCG Gene

  • Protein details for UGCG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16739-CEGT_HUMAN
    Recommended name:
    Ceramide glucosyltransferase
    Protein Accession:
    Q16739
    Secondary Accessions:
    • Q5T258

    Protein attributes for UGCG Gene

    Size:
    394 amino acids
    Molecular mass:
    44854 Da
    Quaternary structure:
    No Data Available

neXtProt entry for UGCG Gene

Post-translational modifications for UGCG Gene

  • Ubiquitination at posLast=4444, isoforms=49, isoforms=57, posLast=104104, and isoforms=124

Other Protein References for UGCG Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for UGCG Gene

Domains & Families for UGCG Gene

Gene Families for UGCG Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for UGCG Gene

Suggested Antigen Peptide Sequences for UGCG Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q16739

UniProtKB/Swiss-Prot:

CEGT_HUMAN :
  • The D1, D2, D3, (Q/R)XXRW motif is a critical part of the GCS active site, involved in catalysis and UDP-sugar binding.
  • Belongs to the glycosyltransferase 2 family.
Domain:
  • The D1, D2, D3, (Q/R)XXRW motif is a critical part of the GCS active site, involved in catalysis and UDP-sugar binding.
Family:
  • Belongs to the glycosyltransferase 2 family.
genes like me logo Genes that share domains with UGCG: view

Function for UGCG Gene

Molecular function for UGCG Gene

GENATLAS Biochemistry:
UDP-glucose-ceramide glycosyltransferase,catalyzing the first glycosylation step of glycosphingolipid synthesis
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-glucose + N-acylsphingosine = UDP + D-glucosyl-N-acylsphingosine.
UniProtKB/Swiss-Prot Function:
Catalyzes the first glycosylation step in glycosphingolipid biosynthesis, the transfer of glucose to ceramide. May also serve as a "flippase".

Enzyme Numbers (IUBMB) for UGCG Gene

Phenotypes From GWAS Catalog for UGCG Gene

Gene Ontology (GO) - Molecular Function for UGCG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008120 ceramide glucosyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0102769 dihydroceramide glucosyltransferase activity IEA --
genes like me logo Genes that share ontologies with UGCG: view
genes like me logo Genes that share phenotypes with UGCG: view

Animal Models for UGCG Gene

MGI Knock Outs for UGCG:

Animal Model Products

miRNA for UGCG Gene

miRTarBase miRNAs that target UGCG

Clone Products

  • Addgene plasmids for UGCG

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UGCG Gene

Localization for UGCG Gene

Subcellular locations from UniProtKB/Swiss-Prot for UGCG Gene

Golgi apparatus membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UGCG gene
Compartment Confidence
golgi apparatus 5
plasma membrane 3
extracellular 2
endoplasmic reticulum 2
lysosome 2
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1
endosome 1

Gene Ontology (GO) - Cellular Components for UGCG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane TAS 8643456
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with UGCG: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for UGCG Gene

Pathways & Interactions for UGCG Gene

genes like me logo Genes that share pathways with UGCG: view

Pathways by source for UGCG Gene

UniProtKB/Swiss-Prot Q16739-CEGT_HUMAN

  • Pathway: Lipid metabolism; sphingolipid metabolism.

Gene Ontology (GO) - Biological Process for UGCG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0006679 glucosylceramide biosynthetic process TAS 8643456
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0006688 glycosphingolipid biosynthetic process TAS 8643456
genes like me logo Genes that share ontologies with UGCG: view

No data available for SIGNOR curated interactions for UGCG Gene

Drugs & Compounds for UGCG Gene

(24) Drugs for UGCG Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Miglustat Approved Pharma Target, inhibitor 21
Eliglustat Approved Pharma Target, antagonist 11
Uridine diphosphate glucose Experimental Pharma 0
Uridine-5'-Diphosphate Experimental Pharma 0
Caspofungin Acetate Pharma 0

(97) Additional Compounds for UGCG Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dihydroceramide
  • N-Acylsphinganine
  • N-[(2S,3R)-1,3-Dihydroxyoctadecan-2-yl]formamide
glucosylceramide
  • 1-O-b-D-Glucopyranosyl-Ceramide
  • 1-O-beta-delta-Glucopyranosyl-Ceramide
  • Ganglioside GL1a
  • Gaucher cerebroside
  • Glc-beta1->1'Cer
85305-87-9
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6

(2) ApexBio Compounds for UGCG Gene

Compound Action Cas Number
Caspofungin Acetate 179463-17-3
Micafungin sodium Inhibitor of β-(1,3)-D-glucan synthesis;fungicide 208538-73-2
genes like me logo Genes that share compounds with UGCG: view

Drug Products

Transcripts for UGCG Gene

Unigene Clusters for UGCG Gene

UDP-glucose ceramide glucosyltransferase:
Representative Sequences:

Clone Products

  • Addgene plasmids for UGCG

Alternative Splicing Database (ASD) splice patterns (SP) for UGCG Gene

No ASD Table

Relevant External Links for UGCG Gene

GeneLoc Exon Structure for
UGCG
ECgene alternative splicing isoforms for
UGCG

Expression for UGCG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UGCG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UGCG Gene

This gene is overexpressed in Monocytes (52.5) and Heart (16.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UGCG Gene



Protein tissue co-expression partners for UGCG Gene

NURSA nuclear receptor signaling pathways regulating expression of UGCG Gene:

UGCG

SOURCE GeneReport for Unigene cluster for UGCG Gene:

Hs.304249

mRNA Expression by UniProt/SwissProt for UGCG Gene:

Q16739-CEGT_HUMAN
Tissue specificity: Found in all tissues examined.

Evidence on tissue expression from TISSUES for UGCG Gene

  • Nervous system(3.6)
  • Kidney(2.7)
  • Lung(2.7)
  • Spleen(2.7)
  • Skin(2.5)
  • Bone marrow(2.3)
  • Liver(2.2)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with UGCG: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UGCG Gene

Orthologs for UGCG Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for UGCG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UGCG 33 34
  • 99.73 (n)
oppossum
(Monodelphis domestica)
Mammalia UGCG 34
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UGCG 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UGCG 33 34
  • 95.01 (n)
cow
(Bos Taurus)
Mammalia UGCG 34 33
  • 94.16 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ugcg 33 16 34
  • 91.96 (n)
rat
(Rattus norvegicus)
Mammalia Ugcg 33
  • 89.93 (n)
chicken
(Gallus gallus)
Aves UGCG 33 34
  • 84.26 (n)
lizard
(Anolis carolinensis)
Reptilia UGCG 34
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ugcg 33
  • 81.22 (n)
Str.20419 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.21362 33
zebrafish
(Danio rerio)
Actinopterygii ugcg 33 34
  • 75.74 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012412 33
  • 57.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta GlcT-1 33 34
  • 55.41 (n)
CG6437 35
  • 52 (a)
worm
(Caenorhabditis elegans)
Secernentea cgt-3 33 34
  • 54.69 (n)
F59G1.1c 35
  • 48 (a)
F59G1.1a 35
  • 44 (a)
F59G1.1b 35
  • 44 (a)
F20B4.6 35
  • 38 (a)
T06C12.10 35
  • 38 (a)
cgt-2 34
  • 37 (a)
OneToMany
cgt-1 34
  • 33 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E02641g 33
  • 47.14 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR207W 33
  • 40.17 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9756 34
  • 54 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU01116 33
  • 42.68 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14730 33
Species where no ortholog for UGCG was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UGCG Gene

ENSEMBL:
Gene Tree for UGCG (if available)
TreeFam:
Gene Tree for UGCG (if available)

Paralogs for UGCG Gene

No data available for Paralogs for UGCG Gene

Variants for UGCG Gene

Sequence variations from dbSNP and Humsavar for UGCG Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000189198 -- 111,899,154(+) A/T intron_variant
rs1000361753 -- 111,904,516(+) C/T intron_variant
rs1000418560 -- 111,927,664(+) G/T 3_prime_UTR_variant, intron_variant
rs1000455931 -- 111,916,040(+) T/C intron_variant
rs1000557143 -- 111,909,847(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for UGCG Gene

Variant ID Type Subtype PubMed ID
nsv831690 CNV loss 17160897
nsv1119606 CNV deletion 24896259
nsv1110051 CNV deletion 24896259
esv3545326 CNV deletion 23714750
esv3129366 CNV deletion 24192839
esv1136125 CNV deletion 17803354

Variation tolerance for UGCG Gene

Residual Variation Intolerance Score: 23% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.49; 10.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UGCG Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UGCG

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UGCG Gene

Disorders for UGCG Gene

MalaCards: The human disease database

(4) MalaCards diseases for UGCG Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
sandhoff disease
  • gm2-gangliosidosis, type ii
gaucher's disease
  • acid beta-glucosidase deficiency
gaucher disease, type i
  • gd i
niemann-pick disease
  • lipoid histiocytosis
- elite association - COSMIC cancer census association via MalaCards
Search UGCG in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UGCG

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with UGCG: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UGCG Gene

Publications for UGCG Gene

  1. Expression cloning of a cDNA for human ceramide glucosyltransferase that catalyzes the first glycosylation step of glycosphingolipid synthesis. (PMID: 8643456) Ichikawa S … Hirabayashi Y (Proceedings of the National Academy of Sciences of the United States of America 1996) 2 3 4 22 58
  2. Assignment of a UDP-glucose:ceramide glucosyltransferase gene (UGCG) to human chromosome band 9q31 by in situ hybridization. (PMID: 9605861) Ichikawa S … Hirabayashi Y (Cytogenetics and cell genetics 1997) 2 3 22 58
  3. Expression cloning of a cDNA for human ceramide glucosyltransferase that catalyzes the first glycosylation step of glycosphingolipid synthesis. (PMID: 8901638) Ichikawa S … Hirabayashi Y (Proceedings of the National Academy of Sciences of the United States of America 1996) 3 4 22 58
  4. Prognostic relevance of glucosylceramide synthase (GCS) expression in breast cancer. (PMID: 18560890) Ruckhäberle E … Rody A (Journal of cancer research and clinical oncology 2009) 3 22 58
  5. Glucosylceramide synthase decrease in frontal cortex of Alzheimer brain correlates with abnormal increase in endogenous ceramides: consequences to morphology and viability on enzyme suppression in cultured primary neurons. (PMID: 18155680) Marks N … Saito M (Brain research 2008) 3 22 58

Products for UGCG Gene

Sources for UGCG Gene

Content
Loading form....