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Aliases for UGCG Gene

Aliases for UGCG Gene

  • UDP-Glucose Ceramide Glucosyltransferase 2 3 4
  • Glucosylceramide Synthase 2 3 4
  • UDP-Glucose:N-Acylsphingosine D-Glucosyltransferase 3 4
  • GCS 3 4
  • Ceramide Glucosyltransferase 2
  • 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 gaucher disease, type i and gaucher's disease. Among its related pathways are Metabolism and Sphingolipid metabolism. 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

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

Genomics for UGCG Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for UGCG Gene

Chromosome:
9
Start:
111,896,766 bp from pter
End:
111,935,374 bp from pter
Size:
38,609 bases
Orientation:
Plus strand

Genomic View for UGCG Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for UGCG Gene at MOPED

Post-translational modifications for UGCG Gene

  • Ubiquitination at Lys 44, Lys 49, Lys 57, Lys 104, and Lys 124
  • Modification sites at PhosphoSitePlus

Other Protein References for UGCG Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for UGCG Gene

Domains & Families for UGCG Gene

Gene Families for UGCG Gene

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 :
  • Belongs to the glycosyltransferase 2 family.
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

Gene Ontology (GO) - Molecular Function for UGCG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008120 ceramide glucosyltransferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups --
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

No data available for 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
Jensen Localization Image for UGCG Gene COMPARTMENTS Subcellular localization image for UGCG gene
Compartment Confidence
golgi apparatus 4
lysosome 2
plasma membrane 2
vacuole 2
cytosol 1
endoplasmic reticulum 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:0016020 membrane TAS 8643456
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with UGCG: view

Pathways & Interactions for UGCG Gene

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

Pathways by source for UGCG Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0006665 sphingolipid metabolic process TAS --
GO:0006679 glucosylceramide biosynthetic process TAS 8643456
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0006688 glycosphingolipid biosynthetic process TAS 8643456
GO:0008544 epidermis development TAS 9545298
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

(20) Drugs for UGCG Gene - From: NovoSeek, DrugBank, ApexBio, HMDB, and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Miglustat Approved Pharma inhibitor, Target 20
eliglustat Approved Pharma Target, antagonist 0
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2437
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1525
Etoposide Approved Pharma Topo II inhibitor, Topoisomerase 2 Inhibitors, Topoisomerase II inhibitor 1127

(102) 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
genes like me logo Genes that share compounds with UGCG: view

Transcripts for UGCG Gene

Unigene Clusters for UGCG Gene

UDP-glucose ceramide glucosyltransferase:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UGCG

Flow Cytometry Products

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 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, MOPED, and MaxQB for UGCG Gene



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.
genes like me logo Genes that share expression patterns with UGCG: view

Protein tissue co-expression partners for UGCG Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia UGCG 35
  • 94.16 (n)
  • 99.75 (a)
UGCG 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UGCG 35
  • 95.01 (n)
  • 99.49 (a)
UGCG 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ugcg 35
  • 91.96 (n)
  • 98.22 (a)
Ugcg 16
Ugcg 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UGCG 35
  • 99.73 (n)
  • 100 (a)
UGCG 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ugcg 35
  • 89.93 (n)
  • 97.21 (a)
oppossum
(Monodelphis domestica)
Mammalia UGCG 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UGCG 36
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves UGCG 35
  • 84.26 (n)
  • 95.69 (a)
UGCG 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UGCG 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.20419 35
ugcg 35
  • 81.22 (n)
  • 92.13 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21362 35
zebrafish
(Danio rerio)
Actinopterygii ugcg 35
  • 75.74 (n)
  • 90.84 (a)
ugcg 36
  • 81 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6437 37
  • 52 (a)
GlcT-1 35
  • 55.41 (n)
  • 53.61 (a)
GlcT-1 36
  • 47 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012412 35
  • 57.63 (n)
  • 53.93 (a)
worm
(Caenorhabditis elegans)
Secernentea F20B4.6 37
  • 38 (a)
F59G1.1a 37
  • 44 (a)
F59G1.1b 37
  • 44 (a)
F59G1.1c 37
  • 48 (a)
T06C12.10 37
  • 38 (a)
cgt-3 35
  • 54.69 (n)
  • 45.58 (a)
cgt-1 36
  • 33 (a)
OneToMany
cgt-2 36
  • 37 (a)
OneToMany
cgt-3 36
  • 37 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR207W 35
  • 40.17 (n)
  • 32.3 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E02641g 35
  • 47.14 (n)
  • 34.7 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14730 35
bread mold
(Neurospora crassa)
Ascomycetes NCU01116 35
  • 42.68 (n)
  • 33.14 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9756 36
  • 54 (a)
OneToOne
Species with no ortholog for UGCG:
  • 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 Sequence Context AA Info Type MAF
rs12143 -- 111,935,280(-) CACTG(G/T)TTTTT utr-variant-3-prime
rs12468 -- 111,933,479(+) CATGG(C/T)GAGGT utr-variant-3-prime
rs13913 -- 111,935,041(-) TTTTG(C/T)TGTTA utr-variant-3-prime
rs386621 -- 111,926,713(+) CTGTG(C/T)GCAGG intron-variant
rs454073 -- 111,911,989(-) tatat(A/G)tatcc intron-variant

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

Variant ID Type Subtype PubMed ID
nsv831690 CNV Loss 17160897
nsv893729 CNV Gain 21882294
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)

Relevant External Links for UGCG Gene

HapMap Linkage Disequilibrium report
UGCG

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

Disorders for UGCG Gene

MalaCards: The human disease database

(2) MalaCards diseases for UGCG Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
gaucher disease, type i
  • acid beta-glucosidase deficiency
gaucher's disease
  • lipoid histiocytosis
- elite association
Search UGCG in MalaCards View complete list of genes associated with diseases

Relevant External Links for UGCG

Genetic Association Database (GAD)
UGCG
Human Genome Epidemiology (HuGE) Navigator
UGCG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UGCG
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. The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat. (PMID: 17624027) Treiber A. … Clozel M. (Xenobiotica 2007) 23 25 26 67
  2. Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year. (PMID: 17603755) Chien Y.H. … Hwu W.L. (J. Inherit. Metab. Dis. 2007) 23 25 26 67
  3. Guidance on the use of miglustat for treating patients with type 1 Gaucher disease. (PMID: 16247743) Weinreb N.J. … Mistry P. (Am. J. Hematol. 2005) 23 25 26 67
  4. Substrate reduction therapy: clinical evaluation in type 1 Gaucher disease. (PMID: 12803929) Moyses C. (Philos. Trans. R. Soc. Lond., B, Biol. Sci. 2003) 23 25 26 67
  5. Miglustat. (PMID: 14609352) McCormack P.L. … Goa K.L. (Drugs 2003) 23 25 26 67

Products for UGCG Gene

  • Cloud-Clone Corp. Antibodies for UGCG
  • Cloud-Clone Corp. Proteins for UGCG
  • Cloud-Clone Corp Assay Kits for UGCG

Sources for UGCG Gene

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