Human Gene UGCG (ENST00000374279.4) from GENCODE V44
  Description: Homo sapiens UDP-glucose ceramide glucosyltransferase (UGCG), mRNA. (from RefSeq NM_003358)
RefSeq Summary (NM_003358): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000374279.4
Gencode Gene: ENSG00000148154.10
Transcript (Including UTRs)
   Position: hg38 chr9:111,896,814-111,935,369 Size: 38,556 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg38 chr9:111,897,216-111,932,997 Size: 35,782 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:111,896,814-111,935,369)mRNA (may differ from genome)Protein (394 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CEGT_HUMAN
DESCRIPTION: RecName: Full=Ceramide glucosyltransferase; EC=2.4.1.80; AltName: Full=GLCT-1; AltName: Full=Glucosylceramide synthase; Short=GCS; AltName: Full=UDP-glucose ceramide glucosyltransferase; AltName: Full=UDP-glucose:N-acylsphingosine D-glucosyltransferase;
FUNCTION: Catalyzes the first glycosylation step in glycosphingolipid biosynthesis, the transfer of glucose to ceramide. May also serve as a "flippase".
CATALYTIC ACTIVITY: UDP-glucose + N-acylsphingosine = UDP + D- glucosyl-N-acylsphingosine.
PATHWAY: Lipid metabolism; sphingolipid metabolism.
SUBCELLULAR LOCATION: Golgi apparatus membrane; Multi-pass membrane protein (By similarity).
TISSUE SPECIFICITY: Found in all tissues examined.
SIMILARITY: Belongs to the glycosyltransferase 2 family.
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: UGCG
Diseases sorted by gene-association score: gaucher's disease (7), gaucher disease, type i (4), niemann-pick disease (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.32 RPKM in Cells - Cultured fibroblasts
Total median expression: 545.20 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -236.60402-0.589 Picture PostScript Text
3' UTR -573.702372-0.242 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR025993 - Ceramide_glucosylTrfase

Pfam Domains:
PF13506 - Glycosyl transferase family 21

ModBase Predicted Comparative 3D Structure on Q16739
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsemblWormBase 
Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence 
AlignmentAlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008120 ceramide glucosyltransferase activity
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups

Biological Process:
GO:0006629 lipid metabolic process
GO:0006665 sphingolipid metabolic process
GO:0006679 glucosylceramide biosynthetic process
GO:0006687 glycosphingolipid metabolic process
GO:0006688 glycosphingolipid biosynthetic process
GO:0008544 epidermis development

Cellular Component:
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC038711 - Homo sapiens UDP-glucose ceramide glucosyltransferase, mRNA (cDNA clone MGC:33797 IMAGE:5295561), complete cds.
D50840 - Homo sapiens mRNA for ceramide glucosyltransferase, complete cds.
JD493760 - Sequence 474784 from Patent EP1572962.
JD127188 - Sequence 108212 from Patent EP1572962.
JD398217 - Sequence 379241 from Patent EP1572962.
JD099238 - Sequence 80262 from Patent EP1572962.
AK314847 - Homo sapiens cDNA, FLJ95740, Homo sapiens UDP-glucose ceramide glucosyltransferase (UGCG), mRNA.
AB384716 - Synthetic construct DNA, clone: pF1KB2507, Homo sapiens UGCG gene for ceramide glucosyltransferase, complete cds, without stop codon, in Flexi system.
JF432523 - Synthetic construct Homo sapiens clone IMAGE:100073745 UDP-glucose ceramide glucosyltransferase (UGCG) gene, encodes complete protein.
KJ897723 - Synthetic construct Homo sapiens clone ccsbBroadEn_07117 UGCG gene, encodes complete protein.
AJ420423 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 1287006.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00600 - Sphingolipid metabolism
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-7835 - superpathway of glycosphingolipids biosynthesis
PWY-7836 - ganglio-series glycosphingolipids biosynthesis
PWY-7838 - globo-series glycosphingolipids biosynthesis
PWY-7839 - lacto-series glycosphingolipids biosynthesis
PWY-7841 - neolacto-series glycosphingolipids biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q16739 (Reactome details) participates in the following event(s):

R-HSA-1638104 Ceramide glucosyltransferase (UGCG) catalyses the transfer of glucose to ceramide
R-HSA-1660662 Glycosphingolipid metabolism
R-HSA-428157 Sphingolipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: CEGT_HUMAN, ENST00000374279.1, ENST00000374279.2, ENST00000374279.3, NM_003358, Q16739, Q5T258, uc004bft.1, uc004bft.2, uc004bft.3, uc004bft.4, uc004bft.5
UCSC ID: ENST00000374279.4
RefSeq Accession: NM_003358
Protein: Q16739 (aka CEGT_HUMAN)
CCDS: CCDS6782.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.