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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UGCG Gene

protein-coding   GIFtS: 64
GCID: GC09P114659

UDP-Glucose Ceramide Glucosyltransferase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
UDP-Glucose Ceramide Glucosyltransferase1 2 3     UDP-Glucose:N-Acylsphingosine D-Glucosyltransferase2 3
Glucosylceramide Synthase1 2 3     GLCT12
GCS2 3 5     Ceramide Glucosyltransferase2
GLCT-12 3     EC 2.4.1.803

External Ids:    HGNC: 125241   Entrez Gene: 73572   Ensembl: ENSG000001481547   OMIM: 6028745   UniProtKB: Q167393   

Export aliases for UGCG gene to outside databases

Previous GC identifers: GC09P105457 GC09P106391 GC09P108116 GC09P110039 GC09P111738 GC09P113698 GC09P084257


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for UGCG Gene:
Glycosphingolipids (GSLs) are a group of membrane components that contain lipid and sugar moieties. They are
present in essentially all animal cells and are believed to have important roles in various cellular processes.
UDP-glucose ceramide glucosyltransferase catalyzes the first glycosylation step in glycosphingolipid
biosynthesis. The product, glucosylceramide, is the core structure of more than 300 GSLs. UGCG is widely
expressed and transcription is upregulated during keratinocyte differentiation. (provided by RefSeq, Oct 2009)

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, and among its related super-pathways are Sphingolipid metabolism and Metabolic pathways. GO annotations related to this gene include ceramide glucosyltransferase activity.

UniProtKB/Swiss-Prot: CEGT_HUMAN, Q16739
Function: 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UGCG gene promoter:
         HEN1   C/EBPbeta   AML1a   Lmo2   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   MRF-2   POU3F2   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUGCG promoter sequence
   Search SABiosciences Chromatin IP Primers for UGCG

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UGCG


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q31   Ensembl cytogenetic band:  9q31.3   HGNC cytogenetic band: 9q31

UGCG Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UGCG gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P114659:  view genomic region     (about GC identifiers)

Start:
114,659,046 bp from pter      End:
114,697,649 bp from pter
Size:
38,604 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CEGT_HUMAN, Q16739 (See protein sequence)
Recommended Name: Ceramide glucosyltransferase  
Size: 394 amino acids; 44854 Da
Subcellular location: Golgi apparatus membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: Q5T258

Explore the universe of human proteins at neXtProt for UGCG: NX_Q16739

Explore proteomics data for UGCG at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q16739

  • UGCG Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UGCG Protein Expression
    REFSEQ proteins: NP_003349.1  
    ENSEMBL proteins: 
     ENSP00000363397  
    Reactome Protein details: Q16739
    Human Recombinant Protein Products for UGCG: 
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    Cloud-Clone Corp. Proteins for UGCG 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0016020membrane TAS8643456
    GO:0016021integral to membrane IEA--

    UGCG for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    GLT2: Glycosyltransferase family 2 domain containing

    1 InterPro protein domain:
     IPR025993 Ceramide_glucosylTrfase

    Graphical View of Domain Structure for InterPro Entry Q16739

    ProtoNet protein and cluster: Q16739

    1 Blocks protein domain: IPB001173 Glycosyl transferase

    UniProtKB/Swiss-Prot: CEGT_HUMAN, Q16739
    Similarity: Belongs to the glycosyltransferase 2 family


    UGCG for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CEGT_HUMAN, Q16739
    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

         Genatlas biochemistry entry for UGCG:
    UDP-glucose-ceramide glycosyltransferase,catalyzing the first glycosylation step of glycosphingolipid synthesis

         Enzyme Number (IUBMB): EC 2.4.1.801

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008120ceramide glucosyltransferase activity IEA--
         
    UGCG for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for UGCG:
     Synthetic lethal with Ras 

         9 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Ugcg):
     behavior/neurological  cellular  embryogenesis  growth/size  homeostasis/metabolism 
     mortality/aging  nervous system  no phenotypic analysis  normal 

    UGCG for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for UGCG: Ugcgtm2Rlp Ugcgtm1Rlp Ugcgtm1.1Hjg

       inGenious Targeting Laboratory - Custom generated mouse model solutions for UGCG 
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    SwitchGear 3'UTR luciferase reporter plasmidUGCG 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for UGCG About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.63
    Glycosphingolipid metabolism0.55
    Sphingolipid metabolism0.63
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3IL2 signaling events mediated by PI3K
    IL2 signaling events mediated by PI3K0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for UGCG
        IL2 signaling events mediated by PI3K

    4        Reactome Pathways for UGCG
        Sphingolipid metabolism
    Glycosphingolipid metabolism
    Metabolism
    Metabolism of lipids and lipoproteins


    2         Kegg Pathways  (Kegg details for UGCG):
        Sphingolipid metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: CEGT_HUMAN, Q16739
    Pathway: Lipid metabolism; sphingolipid metabolism


    UGCG for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UGCG

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/40 Interacting proteins for UGCG (Q167393 ENSP000003633974) via UniProtKB, MINT, STRING, and/or I2D (see all 40)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    RTN1Q167993, ENSP000002674844I2D: score=2 STRING: ENSP00000267484
    RTN3O951973, ENSP000003441064I2D: score=2 STRING: ENSP00000344106
    ACER1ENSP000003014524STRING: ENSP00000301452
    ASAH1ENSP000003711524STRING: ENSP00000371152
    ASAH2ENSP000003788974STRING: ENSP00000378897
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006679glucosylceramide biosynthetic process TAS8643456
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0006688glycosphingolipid biosynthetic process TAS8643456
    GO:0008544epidermis development TAS9545298

    UGCG for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    UGCG for compounds           About GeneDecksing

    EMD Millipore small molecules for UGCG:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UGCG (CEGT)

    10/112 HMDB Compounds for UGCG (see all 112)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
    3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
    3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
    3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
    3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--
    3-O-Sulfogalactosylceramide (d18:1/26:1(17Z))Sulfatide (d18:1/26:1(17Z)) (see all 13)928346-40-1--

    1 DrugBank Compound for UGCG    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Miglustat-- 72599-27-0targetinhibitor16247743 14609352 17624027 16627252 19956552 11752352 18221193 17603755 18728838 12803929

    10/37 Novoseek inferred chemical compound relationships for UGCG gene (see all 37)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucosylceramide 98.6 349 10329660 (8), 15141021 (6), 14766899 (4), 15263008 (4) (see all 99)
    miglustat 94.3 37 17720777 (2), 17624027 (2), 14609352 (1), 16547352 (1) (see all 21)
    pdmp 94.1 24 20137123 (3), 15263008 (2), 8086032 (2), 2142685 (1) (see all 16)
    ceramide 92.6 193 18245173 (6), 10945987 (6), 15342415 (5), 12538495 (5) (see all 81)
    glycosphingolipid 91.6 25 17243712 (2), 8901638 (1), 9376349 (1), 17603755 (1) (see all 21)
    lactosylceramide 90.2 13 8808768 (1), 11740154 (1), 15661399 (1), 12232838 (1) (see all 8)
    laccer 84.8 6 11740154 (1), 19219548 (1), 18853254 (1), 16151023 (1) (see all 5)
    dihydroceramide 77 3 16914556 (1), 11239824 (1)
    ganglioside 75.4 12 15867385 (1), 15625180 (1), 8995443 (1), 11196188 (1) (see all 10)
    ceramides 75.1 2 8132572 (1), 18155680 (1)

    Search CenterWatch for drugs/clinical trials and news about UGCG / CEGT

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for UGCG gene: 
    NM_003358.1  

    Unigene Clusters for UGCG:

    UDP-glucose ceramide glucosyltransferase
    Hs.304249  [show with all ESTs], Hs.593014  [show with all ESTs]
    Unigene Representative Sequences: BC038711, AJ420423
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374279(uc004bft.3) ENST00000489355 ENST00000490110 ENST00000495085
    ENST00000474306
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UGCG

    Additional mRNA sequence: AJ420423.1 

    13 DOTS entries:

    DT.85104818  DT.95273516  DT.100042074  DT.95162169  DT.92436455  DT.40191612  DT.91944663  DT.92051284 
    DT.92436464  DT.95110872  DT.121170368  DT.92436452  DT.95103397 

    24/317 AceView cDNA sequences (see all 317):

    AI913292 AI688479 Z44930 BU733936 AI572219 AI743931 CK818752 CA446237 
    CA431984 AA281055 AW105142 AA283066 AA669039 AL600113 BU608022 AA278738 
    BM979553 BE675959 CA418539 CB143127 CA415494 AI141471 AW592493 AI679846 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    UGCG expression in normal human tissues (normalized intensities)      UGCG embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCACTTGCAT
    UGCG Expression
    About this image


    UGCG expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/21 selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
             optic nerve head astrocytes   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Plasmacytoid Dendritic cells Peripheral Blood
             lung ; macrophages   
     
     Lymph (Hematopoietic System)    fully expand to see all 3 entries
             lymph node ; non-germinal center cells   
             lymph node   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Tonsil (Hematopoietic System)    fully expand to see all 2 entries
             tonsil ; non-germinal center cells   

    See UGCG Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UGCG

    SOURCE GeneReport for Unigene clusters: Hs.304249 Hs.593014

    UniProtKB/Swiss-Prot: CEGT_HUMAN, Q16739
    Tissue specificity: Found in all tissues examined

        SABiosciences Expression via Pathway-Focused PCR Arrays including UGCG: 
              Cancer Drug Resistance in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for UGCG gene from 8/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ugcg1 , 5 UDP-glucose ceramide glucosyltransferase1, 5 91.96(n)1
    98.22(a)1
      4 (32.44 cM)5
    222341  NM_011673.31  NP_035803.11 
     591892575 
    chicken
    (Gallus gallus)
    Aves UGCG1 UDP-glucose ceramide glucosyltransferase 84.26(n)
    95.69(a)
      427335  XM_424914.3  XP_424914.2 
    lizard
    (Anolis carolinensis)
    Reptilia UGCG6
    Uncharacterized protein
    95(a)
    1 ↔ 1
    2(57286779-57335546)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.213622 Xenopus laevis UDP-glucose ceramide glucosyltransferase more 81.03(n)    AY112732.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ugcg1 UDP-glucose ceramide glucosyltransferase 75.74(n)
    90.84(a)
      553944  NM_001024207.1  NP_001019378.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG64373
    GlcT-11
    ceramide glucosyltransferase3
    CG6437-PA1
    52(a)3
    55.41(n)1
    53.61(a)1
      58B33
    375161  NM_137792.21  NP_611636.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F59G1.1c3
    cgt-31
    Protein CGT-31 48(a)
    (best of 5)3
    54.69(n)1
    45.58(a)1
      II(5912569-5916249)3
    1740011  NM_062780.41  NP_495181.21 
    A. gossypii yeast
    (Ashbya gossypii)
    Saccharomycetes AGOS_ACR207W1 ACR207Wp 40.95(n)
    32.34(a)
      4619741  NM_208962.1  NP_983609.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/853 SNPs in UGCG are shown (see all 853)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs109811461,2
    C--114657260(+) AACCAT/CGCCTG 1 -- us2k15Minor allele frequency- C:0.24NA WA EA 362
    rs571744741,2
    C--114657291(+) TTTTT-/TTTTTTTTTT
    /TTTTTTTTTTT
    GTAGA
    1 -- us2k11NA 2
    rs788761051,2
    C,F--114657532(+) GGTTCG/AGACAT 1 -- us2k12Minor allele frequency- A:0.23NA EA 240
    rs1841601091,2
    --114657549(+) TTCTAA/GTTGTA 1 -- us2k10--------
    rs770113151,2
    F--114657598(+) TGACTA/GTTAAC 1 -- us2k11Minor allele frequency- G:0.07WA 118
    rs1869945161,2
    --114657704(+) GTGCAC/GTGGCG 1 -- us2k10--------
    rs78668631,2
    C,F,A,H--114657707(+) CAGTGG/ACGCGA 1 -- us2k13Minor allele frequency- A:0.50NA 6
    rs49790611,2
    C,F,A--114657719(+) CTCGGT/CTCACT 1 -- us2k16Minor allele frequency- C:0.42NA WA 12
    rs1466884131,2
    C--114657743(+) CTCCAA/GGTTTA 1 -- us2k10--------
    rs1403069211,2
    --114657772(+) CCTCCA/GGAGTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for UGCG (114659046 - 114697649 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for UGCG:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1136125CNV Deletion17803354
    nsv831690CNV Loss17160897
    nsv893729CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for UGCG

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602874    OMIM disorders: --

    20/38 diseases for UGCG (see all 38):    About MalaCards
    sandhoff disease    gaucher's disease    fabry disease    neuroepithelioma
    recurrent respiratory papillomatosis    anoxia    gangliosidosis    niemann-pick disease
    pick's disease    t cell deficiency    acute promyelocytic leukemia    adult t-cell leukemia
    polycystic kidney disease    diffuse large b-cell lymphoma    kidney disease    chronic myeloid leukemia
    b-cell lymphomas    lung adenocarcinoma    myeloid leukemia    medulloblastoma

    3 diseases from the University of Copenhagen DISEASES database for UGCG:
    Gaucher's disease     Niemann-Pick disease     Fabry disease

    UGCG for disorders           About GeneDecksing

    10/16 Novoseek inferred disease relationships for UGCG gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    type 1 gaucher disease 85.4 2 19608672 (1), 17624027 (1)
    gaucher disease 73.8 6 16959503 (2), 14609352 (1), 17243712 (1), 17603755 (1)
    neuroepithelioma 56.1 3 17511990 (1), 11274971 (1)
    sandhoff disease 53 1 15262262 (1)
    fabry disease 44.8 1 10652021 (1)
    melanoma b16 31.8 2 8647878 (1), 10869565 (1)
    breast carcinoma 30.8 5 19502811 (2), 15949329 (2), 15842808 (1)
    breast cancer 27.1 27 9873062 (3), 19502811 (3), 18560890 (2), 14967819 (2) (see all 11)
    leukemia 21.9 31 17096885 (5), 17709137 (5), 12538495 (3), 11391632 (1) (see all 6)
    cancer 20.7 31 14967819 (2), 15141021 (2), 19742320 (2), 12531551 (1) (see all 17)

    Genetic Association Database (GAD): UGCG
    Human Genome Epidemiology (HuGE) Navigator: UGCG (2 documents)

    Export disorders for UGCG gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for UGCG gene, integrated from 9 sources (see all 214):
    (articles sorted by number of sources associating them with UGCG)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression cloning of a cDNA for human ceramide glucosyltransferase that catalyzes the first glycosylation step of glycosphingolipid synthesis. (PubMed id 8643456)1, 2, 3, 9 Ichikawa S.... Hirabayashi Y. (1996)
    2. Assignment of a UDP-glucose:ceramide glucosyltransferase gene (UGCG) to human chromosome band 9q31 by in situ hybridization. (PubMed id 9605861)1, 3, 9 Ichikawa S....Hirabayashi Y. (1997)
    3. Expression cloning of a cDNA for human ceramide glucosyltransferase that catalyzes the first glycosylation step of glycosphingolipid synthesis. (PubMed id 8901638)1, 2, 9 Ichikawa S....Hirabayashi Y. (1996)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Polymorphisms in glucosylceramide (glucocerebroside) synthase and the Gaucher disease phenotype. (PubMed id 12489486)1, 4 Beutler E. and West C. (2002)
    6. Overexpression of glucosylceramide synthase in associated with multidrug resistance of leukemia cells. (PubMed id 17709137)1, 9 Xie P....Xie K.M. (2008)
    7. Glucosylceramide synthase does not attenuate the ceramide pool accumulating during apoptosis induced by CD95 or anti-cancer regimens. (PubMed id 10945987)1, 9 Tepper A.D....Borst J. (2000)
    8. Prognostic relevance of glucosylceramide synthase (GCS) expression in breast cancer. (PubMed id 18560890)1, 9 Ruckhaberle E....Rody A. (2009)
    9. Up-regulation of glucosylceramide synthase expression and activity during human keratinocyte differentiation. (PubMed id 9545298)1, 9 Watanabe R....Pagano R.E. (1998)
    10. P-glycoprotein is implicated in the inhibition of ceramide-induced apoptosis in TF-1 acute myeloid leukemia cells by modulation of the glucosylceramide synthase pathway. (PubMed id 15661399)1, 9 Turzanski J....Pallis M. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7357 HGNC: 12524 AceView: UGCG Ensembl:ENSG00000148154 euGenes: HUgn7357
    ECgene: UGCG Kegg: 7357 H-InvDB: UGCG

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for UGCG Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for UGCG Genetics and Cytogenetics in Oncology and Haematology
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for UGCG gene:
    Search GeneIP for patents involving UGCG

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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