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

UGCG Gene

protein-coding   GIFtS: 62
GCID: GC09P114659

UDP-glucose ceramide glucosyltransferase
 Explore 44 diseases affiliated with
UGCG via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for UGCG    

Aliases
for UGCG gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
UDP-Glucose Ceramide Glucosyltransferase1 2 3     UDP-Glucose:N-Acylsphingosine D-Glucosyltransferase2 3
GCS1 2 3 5     GLCT12
Glucosylceramide Synthase2 3     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


Summaries
for UGCG gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
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 plasmid: UGCG 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

Proteins
for UGCG gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q16739

    • UGCG Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003349.1  
    ENSEMBL proteins: 
     ENSP00000363397  
    Reactome Protein details: Q16739
    Human Recombinant Protein Products: 
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    Uscn Proteins for UGCG

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005624membrane fraction ----
    GO:0016020membrane TAS8643456
    GO:0016021integral to membrane IEA--


    UGCG for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for UGCG

    Protein Domains /
    Families
    for UGCG gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    UGCG for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR025993 Ceramide_glucosylTrfase

    Graphical View of Domain Structure for InterPro Entry Q16739

    ProtoNet protein and cluster: Q16739

    1 Blocks protein family: IPB001173 Glycosyl transferase

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


    Function
    for UGCG gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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"
    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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UGCG
    8/11 QIAGEN miScript miRNA 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 plasmid: UGCG 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UGCG (see all 7)
    OriGene shRNA RFP: UGCG
    OriGene siRNA: UGCG
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UGCG

    Gene Editing
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    Clone
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    In Situ Assay
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    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


    1 GenomeRNAi human phenotype for UGCG:
     Synthetic lethal with Ras 

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


    Pathways & Interactions
    for UGCG gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Sphingolipid metabolism
    		Sphingolipid metabolism1.00
    		Sphingolipid metabolism0.54
    		Glycosphingolipid metabolism0.54
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    3IL2 signaling events mediated by PI3K
    		IL2 signaling events mediated by PI3K1.00

    Pathway sources
    See GeneCards unified pathways
    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006679glucosylceramide biosynthetic process TAS8643456
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0006688glycosphingolipid biosynthetic process TAS8643456


    UGCG for ontologies           About GeneDecksing



    Drugs & Compounds
    for UGCG gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
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    Browse Tocris compounds for UGCG

    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 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 

    Transcripts
    for UGCG gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    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

    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
    SwitchGear 3'UTR luciferase reporter plasmid: UGCG 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UGCG

    Additional cDNA sequence: AJ420423.1 

    13 DOTS entries:

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

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

    CA415494 AI679272 BQ009548 CA442397 AA047080 BE675959 CA418539 CA310516 
    AI690962 BF060973 AI075195 AI913292 AI932732 BQ574821 BE045603 CA949926 
    AW440983 AA669039 BU733936 BM126962 AW027994 AA330508 BU608022 AA477571 

    GeneLoc Exon Structure


    Expression
    for UGCG gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCACTTGCAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    UGCG expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle
    PureStem™ progenitor EN2 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    Assay Products:     
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    Orthologs
    for UGCG gene

    (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 8/27 species (see all 27)    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
    		 --
    		 95(a)
    		 1 ↔ 1
    		 2(57287269-57331322)
    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
    for UGCG gene

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

    Genomic Variants
    for UGCG gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/782 NCBI SNPs in UGCG are shown (see all 782)     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
    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
    		--114657743(+) CTCCAA/GGTTTA 1 -- us2k10--------
    rs1403069211,2
    		--114657772(+) CCTCCA/GGAGTA 1 -- us2k10--------
    rs1453651311,2
    		--114657793(+) CAGGCA/GCCTGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for UGCG (114659046 - 114697649 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for UGCG: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing UGCG
    DNA2.0 Custom Variant and Variant Library Synthesis for UGCG

    Disorders / Diseases
    for UGCG gene

    (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.)
    About This Section
    UGCG for disorders           About GeneDecksing

    OMIM gene information: 602874    OMIM disorders: --

    20/44 diseases for UGCG (see all 44):    About MalaCards
    niemann-pick disease    diffuse large b-cell lymphoma    recurrent respiratory papillomatosis    b-cell lymphomas
    sandhoff disease    gaucher's disease    fabry disease    neuroepithelioma
    leukemia/lymphoma    pick's disease    leukemia/lymphoma, t-cell    acute promyelocytic leukemia
    polycystic kidney disease    myeloid leukemia    gangliosidosis    adult t-cell leukemia
    acute lymphoblastic leukemia    lymphoblastic leukemia    chronic myeloid leukemia    acute myeloid leukemia

    10/16 Novoseek 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

    Publications
    for UGCG gene

    (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 213):
    (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)

    External Searches for UGCG gene

    (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)

    Genome Databases showing UGCG gene

    (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

    Other Databases showing UGCG gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing UGCG gene

    (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/

    Intellectual Property
    for UGCG gene

    (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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