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UGCG Gene

protein-coding   GIFtS: 65
GCID: GC09P114659

UDP-Glucose Ceramide Glucosyltransferase

  See UGCG-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
UDP-Glucose Ceramide Glucosyltransferase1 2 3     GLCT-12 3
Glucosylceramide Synthase1 2 3     UDP-Glucose:N-Acylsphingosine D-Glucosyltransferase2 3
GCS2 3 5     GLCT12
Ceramide Glucosyltransferase1 2     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   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 Chromatin IP Primers for UGCG

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CEGT_HUMAN, Q16739 (See protein sequence)
Recommended Name: Ceramide glucosyltransferase  
Size: 394 amino acids; 44854 Da
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: 

  • Ubiquitination2 at Lys44, Lys49, Lys57, Lys104, Lys124
  • Modification sites at PhosphoSitePlus

  • See UGCG Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003349.1  
    ENSEMBL proteins: 
     ENSP00000363397  
    Reactome Protein details: Q16739

    UGCG Human Recombinant Protein Products:

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    antibodies-online proteins for UGCG (7 products) 

     
    antibodies-online peptides for UGCG

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with UGCG           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008120ceramide glucosyltransferase activity IEA--
         
    Find genes that share ontologies with UGCG           About GenesLikeMe


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

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

    Find genes that share phenotypes with UGCG           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for UGCG

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    hsa-mir-375 (MIRT020053), hsa-mir-335-5p (MIRT019137)

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    Selected qRT-PCR Assays for microRNAs that regulate UGCG (see all 11):
    hsa-miR-429 hsa-miR-374b hsa-miR-548e hsa-miR-374a hsa-miR-3133 hsa-miR-548a-3p hsa-miR-200c hsa-miR-3927
    SwitchGear 3'UTR luciferase reporter plasmidUGCG 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CEGT_HUMAN, Q16739: Golgi apparatus membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    extracellular2
    plasma membrane2
    cytosol1
    endoplasmic reticulum1
    endosome1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with UGCG           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for UGCG About    
    See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Glycosphingolipid metabolism0.56
    Sphingolipid metabolism0.61
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3IL2 signaling events mediated by PI3K
    IL2 signaling events mediated by PI3K0.34


    Find genes that share SuperPaths with UGCG           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for UGCG
        IL2 signaling events mediated by PI3K

    1 Reactome Pathway for UGCG
        Glycosphingolipid metabolism


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

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including UGCG: 

              Cancer Drug Resistance in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for UGCG

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

    Selected Interacting proteins for UGCG (Q167393 ENSP000003633974) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    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): Selected biological process terms (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

    Find genes that share ontologies with UGCG           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for UGCG (CEGT)

    Selected 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

    Selected 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)



    Find genes that share compounds with UGCG           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    miRNA
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    hsa-miR-429 hsa-miR-374b hsa-miR-548e hsa-miR-374a hsa-miR-3133 hsa-miR-548a-3p hsa-miR-200c hsa-miR-3927
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    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 

    Selected AceView cDNA sequences (see all 317):

    BM126675 AI347392 BQ020368 AL600113 AL601083 BE675959 BU618224 AA939205 
    BQ027070 BQ009548 AI932732 BM678646 AI683365 AA768045 AA588524 CK818751 
    BQ128013 AW087605 CA943739 AA047080 AI401657 CK818752 AA975420 BU608022 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    UGCG expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Plasmacytoid Dendritic cells Peripheral Blood
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Ovary (Reproductive System)
             Ovarian Somatic Cells Ovigerous Cord
    UGCG Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UGCG Protein Expression

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

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including UGCG: 
              Cancer Drug Resistance in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

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

    Orthologs for UGCG gene from Selected 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_424914.4  XP_424914.2 
    lizard
    (Anolis carolinensis)
    Reptilia UGCG6
    UDP-glucose ceramide glucosyltransferase
    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_001024207.2  NP_001019378.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG64373
    GlcT-11
    ceramide glucosyltransferase3
    GlcT-11
    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
    cgt-31 48(a)
    (best of 5)3
    54.69(n)1
    45.58(a)1
      II(5912569-5916249)3
    1740011  NM_062780.51  NP_495181.21 
    A. gossypii yeast
    (Ashbya gossypii)
    Saccharomycetes AGOS_ACR207W1 AGOS_ACR207W 40.17(n)
    32.3(a)
      4619741  NM_208962.2  NP_983609.2 


    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

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    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for UGCG (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UGCG
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602874    OMIM disorders: --

    1 disease for UGCG:    
    About MalaCards
    sandhoff disease

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

    Find genes that share disorders with UGCG           About GenesLikeMe

    Selected 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)
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    PubMed articles for UGCG gene, integrated from 10 sources (see all 216):
    (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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Cytogenet. Cell Genet. 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Genome Res. 2004)
    5. Polymorphisms in glucosylceramide (glucocerebroside) synthase and the Gaucher disease phenotype. (PubMed id 12489486)1, 4 Beutler E. and West C. (Isr. Med. Assoc. J. 2002)
    6. Overexpression of glucosylceramide synthase in associated with multidrug resistance of leukemia cells. (PubMed id 17709137)1, 9 Xie P....Xie K.M. (Leuk. Res. 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. (J. Biol. Chem. 2000)
    8. Prognostic relevance of glucosylceramide synthase (GCS) expression in breast cancer. (PubMed id 18560890)1, 9 RuckhAoberle E....Rody A. (J. Cancer Res. Clin. Oncol. 2009)
    9. Up-regulation of glucosylceramide synthase expression and activity during human keratinocyte differentiation. (PubMed id 9545298)1, 9 Watanabe R....Pagano R.E. (J. Biol. Chem. 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. (Exp. Hematol. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 7357 HGNC: 12524 AceView: UGCG Ensembl:ENSG00000148154 euGenes: HUgn7357
    ECgene: UGCG Kegg: 7357 H-InvDB: UGCG

    (According to HUGE)
    About This Section

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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for UGCG Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for UGCG Genetics and Cytogenetics in Oncology and Haematology
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=UGCG

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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