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

UXS1 Gene

protein-coding   GIFtS: 57
GCID: GC02M106709

UDP-Glucuronate Decarboxylase 1

  Search for UXS1
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-Glucuronate Decarboxylase 11 2 3     Short Chain Dehydrogenase/Reductase Family 6E1
UGD2 3 5     SDR6E12
UXS-12 3     Short Chain Dehydrogenase/Reductase Family 6E, Member 122
EC 4.1.1.353 8     UDP-Glucuronic Acid Decarboxylase 12
Member 121     

External Ids:    HGNC: 177291   Entrez Gene: 801462   Ensembl: ENSG000001156527   OMIM: 6097495   UniProtKB: Q8NBZ73   

Export aliases for UXS1 gene to outside databases

Previous GC identifers: GC02M104573 GC02M105162 GC02M106314 GC02M106331 GC02M106168 GC02M100479


(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 UXS1 Gene:
This gene encodes an enyzme found in the perinuclear Golgi which catalyzes the synthesis of UDP-xylose used in
glycosaminoglycan (GAG) synthesis on proteoglycans. The GAG chains are covalently attached to proteoglycans which
participate in signaling pathways during development. Multiple transcript variants encoding different isoforms
have been found for this gene. (provided by RefSeq, Dec 2011)

GeneCards Summary for UXS1 Gene: 
UXS1 (UDP-glucuronate decarboxylase 1) is a protein-coding gene. Among its related super-pathways are Glucuronidation and Metabolism. GO annotations related to this gene include UDP-glucuronate decarboxylase activity and nucleotide binding. An important paralog of this gene is GALE.

UniProtKB/Swiss-Prot: UXS1_HUMAN, Q8NBZ7
Function: Catalyzes the NAD-dependent decarboxylation of UDP-glucuronic acid to UDP-xylose. Necessary for the
biosynthesis of the core tetrasaccharide in glycosaminoglycan biosynthesis

Gene Wiki entry for UXS1 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_000002.11  NC_018913.2  NT_022171.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UXS1 gene promoter:
         NF-1   Sp1   FOXD3   LCR-F1   NF-E2 p45   Evi-1   GATA-1   deltaCREB   COMP1   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUXS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for UXS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UXS1


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

Entrez Gene cytogenetic band: 2q12.2   Ensembl cytogenetic band:  2q12.2   HGNC cytogenetic band: 2q12.2

UXS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UXS1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M106709:  view genomic region     (about GC identifiers)

Start:
106,709,759 bp from pter      End:
106,810,795 bp from pter
Size:
101,037 bases      Orientation:
minus 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: UXS1_HUMAN, Q8NBZ7 (See protein sequence)
Recommended Name: UDP-glucuronic acid decarboxylase 1  
Size: 420 amino acids; 47577 Da
Cofactor: NAD
Subunit: Interacts with AKT1 (By similarity)
Subcellular location: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein (By similarity)
2 PDB 3D structures from and Proteopedia for UXS1:
2B69 (3D)        4GLL (3D)    
Secondary accessions: Q8NBX3 Q9H5C2
Alternative splicing: 3 isoforms:  Q8NBZ7-1   Q8NBZ7-2   Q8NBZ7-3   

Explore the universe of human proteins at neXtProt for UXS1: NX_Q8NBZ7

Explore proteomics data for UXS1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NBZ7

  • 4/8 DME Specific Peptides for UXS1 (Q8NBZ7) (see all 8)
     EAQDDPQ  IHYFRKELE  QANNQYIPKPK  LGWEPVVPLEEGLNK 

    UXS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UXS1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001240804.1  NP_001240805.1  NP_079352.2  

    ENSEMBL proteins: 
     ENSP00000283148   ENSP00000387019   ENSP00000387096   ENSP00000416656   ENSP00000403612  
     ENSP00000404468   ENSP00000399316   ENSP00000397049   ENSP00000438265   ENSP00000394334  

    Human Recombinant Protein Products for UXS1: 
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    Novus Biologicals UXS1 Protein
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for UXS1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0016021integral to membrane IEA--
    GO:0032580Golgi cisterna membrane IEA--

    UXS1 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: 
    SDRE: Short chain dehydrogenase/reductase superfamily / Extended SDR fold

    3 InterPro protein domains:
     IPR001509 Epimerase_deHydtase
     IPR016040 NAD(P)-bd_dom
     IPR021761 UXS1_N

    Graphical View of Domain Structure for InterPro Entry Q8NBZ7

    ProtoNet protein and cluster: Q8NBZ7

    1 Blocks protein domain: IPB001509 NAD-dependent epimerase/dehydratase

    UniProtKB/Swiss-Prot: UXS1_HUMAN, Q8NBZ7
    Similarity: Belongs to the sugar epimerase family. UDP-glucuronic acid decarboxylase subfamily


    UXS1 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: UXS1_HUMAN, Q8NBZ7
    Function: Catalyzes the NAD-dependent decarboxylation of UDP-glucuronic acid to UDP-xylose. Necessary for the
    biosynthesis of the core tetrasaccharide in glycosaminoglycan biosynthesis
    Catalytic activity: UDP-D-glucuronate = UDP-D-xylose + CO(2)

         Enzyme Number (IUBMB): EC 4.1.1.351 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:00038543-beta-hydroxy-delta5-steroid dehydrogenase activity ----
    GO:0008831dTDP-4-dehydrorhamnose reductase activity ----
    GO:0016616oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor ----
    GO:0048040UDP-glucuronate decarboxylase activity IEA--
         
    UXS1 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Uxs1):
     immune system  mortality/aging 

    UXS1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Uxs1tm1Lex for UXS1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for UXS1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for UXS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UXS1 
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    miRNA
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    hsa-miR-199a-3p hsa-miR-106a hsa-miR-1245 hsa-miR-301a hsa-miR-519a hsa-miR-93 hsa-miR-130b hsa-miR-526b*
    SwitchGear 3'UTR luciferase reporter plasmidUXS1 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 UXS1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Glucuronidation
    Starch and sucrose metabolism0.41
    2Metabolism
    Metabolic pathways0.40
    3Amino sugar and nucleotide sugar metabolism
    Amino sugar and nucleotide sugar metabolism
    4UDP-D-xylose and UDP-D-glucuronate biosynthesis
    UDP-D-xylose and UDP-D-glucuronate biosynthesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for UXS1
        UDP-D-xylose and UDP-D-glucuronate biosynthesis



    3         Kegg Pathways  (Kegg details for UXS1):
        Starch and sucrose metabolism
    Amino sugar and nucleotide sugar metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: UXS1_HUMAN, Q8NBZ7
    Pathway: Nucleotide-sugar biosynthesis; UDP-alpha-D-xylose biosynthesis; UDP-alpha-D-xylose from
    UDP-alpha-D-glucuronate: step 1/1


    UXS1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UXS1

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

    5/26 Interacting proteins for UXS1 (Q8NBZ73 ENSP000003870194) via UniProtKB, MINT, STRING, and/or I2D (see all 26)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    AKT1P317493, ENSP000002702024I2D: score=2 STRING: ENSP00000270202
    UGDHENSP000003195014STRING: ENSP00000319501
    UGT1A1ENSP000003048454STRING: ENSP00000304845
    UGT1A10ENSP000003438384STRING: ENSP00000343838
    UGT1A3ENSP000004185324STRING: ENSP00000418532
    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:0006694steroid biosynthetic process ----
    GO:0009058biosynthetic process ----
    GO:0033320UDP-D-xylose biosynthetic process IEA--
    GO:0044237cellular metabolic process ----
    GO:0045226extracellular polysaccharide biosynthetic process ----

    UXS1 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UXS1

    5 HMDB Compounds for UXS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    UDP-D-XyloseUDP-D-xylose (see all 7)3616-06-6--
    Uridine diphosphate glucuronic acidUDP glucuronate (see all 41)2616-64-0--

    Search CenterWatch for drugs/clinical trials and news about UXS1

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for UXS1 gene (3 alternative transcripts): 
    NM_001253875.1  NM_001253876.1  NM_025076.4  

    Unigene Cluster for UXS1:

    UDP-glucuronate decarboxylase 1
    Hs.743389  [show with all ESTs]
    Unigene Representative Sequence: NM_001253876
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000283148(uc002tdm.3 uc002tdn.3 uc002tdo.3) ENST00000497604
    ENST00000409501 ENST00000473338(uc002tdk.3) ENST00000409032(uc002tdl.3)
    ENST00000470053 ENST00000441952 ENST00000416298 ENST00000444193 ENST00000457835
    ENST00000436241 ENST00000479774 ENST00000479621 ENST00000483426 ENST00000474920
    ENST00000540130 ENST00000428048(uc010ywh.2)
    miRNA
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    8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate UXS1 (see all 36):
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    Additional mRNA sequence: 

    AK057242.1 AK075120.1 AK075170.1 AK122696.1 AK225592.1 AK290668.1 AK304872.1 AY147934.1 
    AY358541.1 BC009819.2 NR_045607.1 

    14 DOTS entries:

    DT.445675  DT.100749875  DT.100724461  DT.120954799  DT.95228713  DT.92431231  DT.95309997  DT.99984017 
    DT.120954810  DT.97801354  DT.97842615  DT.120954776  DT.95274481  DT.95274482 

    24/182 AceView cDNA sequences (see all 182):

    BQ897687 CB216014 BQ352143 CR592836 BM822692 BF983188 AA877967 AK056022 
    BI908015 BM751109 BQ229328 AI216399 BG291263 W42837 AW052141 AL570082 
    AK075120 AL834439 AL573637 AA347935 AI225070 BF038513 BI559924 BI820602 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for UXS1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b
    SP1:                    -     -                             -                                   -                                 
    SP2:                                                                                            -                                 
    SP3:                                                                                                                              
    SP4:                                                                                                                              
    SP5:                                                                                                                              


    ECgene alternative splicing isoforms for UXS1

    (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

    UXS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTAAATATG
    UXS1 Expression
    About this image


    See UXS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UXS1

    SOURCE GeneReport for Unigene cluster: Hs.743389
        SABiosciences Custom PCR Arrays for UXS1
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UXS1

    (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 eukaryotes.

    Orthologs for UXS1 gene from 10/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Uxs11 , 5 UDP-glucuronate decarboxylase 11, 5 89.13(n)1
    98.57(a)1
      1 (23.46 cM)5
    678831  NM_026430.31  NP_080706.11 
     437469665 
    chicken
    (Gallus gallus)
    Aves UXS11 UDP-glucuronate decarboxylase 1 83.25(n)
    94.52(a)
      418728  XM_416926.3  XP_416926.1 
    lizard
    (Anolis carolinensis)
    Reptilia UXS16
    Uncharacterized protein
    91(a)
    1 ↔ 1
    3(108454967-108514903)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA791612.12   -- 79.09(n)    CA791612.1 
    zebrafish
    (Danio rerio)
    Actinopterygii uxs12 UDP-glucuronic acid decarboxylase 1 79.44(n)   192315  AF506235.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG79791 , 3 dTDP-glucose 4,6-dehydratase3
    CG79791
    67(a)3
    61.84(n)1
    69.13(a)1
      66B113
    389111  NM_139925.31  NP_648182.11 
    worm
    (Caenorhabditis elegans)
    Secernentea sqv-11 Protein SQV-1 62.62(n)
    68.64(a)
      177631  NM_069017.4  NP_501418.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GAL106
    UDP-glucose-4-epimerase, catalyzes the interconver...
    9(a)
    1 → many
    II(276253-278352)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons UXS51 UDP-XYL synthase 5 62.7(n)
    63.99(a)
      823794  NM_001035743.1  NP_001030820.1 
    rice
    (Oryza sativa)
    Liliopsida AB079064.12   -- 70.28(n)    AB079064.1 


    ENSEMBL Gene Tree for UXS1 (if available)
    TreeFam Gene Tree for UXS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UXS1 gene
    GALE2  TGDS2  
    1 SIMAP similar gene for UXS1 using alignment to 8 protein entries:     UXS1_HUMAN (see all proteins):
    DKFZp434L1215

    UXS1 for paralogs           About GeneDecksing



    (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

    10/1967 SNPs in UXS1 are shown (see all 1967)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1413438951,2
    --106709389(+) CACTAA/CACCTT 4 -- int10--------
    rs751226531,2
    C,F--106709779(+) TTTCAA/GTAATT 4 -- ut31 nc-transcript-variant1Minor allele frequency- G:0.04WA 118
    rs76024131,2
    C--106709782(+) CAATAT/ATTTAT 4 -- ut31 nc-transcript-variant10Minor allele frequency- A:0.01NA WA CSA EA 254
    rs1451670171,2
    --106709854(+) CCCCCA/GCCCCA 4 -- ut31 nc-transcript-variant0--------
    rs1158287261,2
    C,F--106709957(+) CTTGGA/GAAAAC 4 -- ut31 nc-transcript-variant1Minor allele frequency- G:0.02WA 118
    rs1389899341,2
    --106709976(+) AAAAGA/GGAAAC 4 -- ut31 nc-transcript-variant0--------
    rs1887247851,2
    --106710003(+) GAATTA/CTTTTA 4 -- ut31 nc-transcript-variant0--------
    rs1911933351,2
    --106710045(+) ACCTGA/CCAATA 4 -- ut31 nc-transcript-variant0--------
    rs1144603201,2
    C,F--106710078(+) ATAGTA/GTAACG 4 -- ut31 nc-transcript-variant1Minor allele frequency- G:0.03WA 118
    rs1414255381,2
    C--106710085(+) AACGAC/TTCATT 4 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for UXS1 (106709759 - 106810795 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for UXS1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv524810CNV Loss19592680

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    UXS1 for disorders           About MalaCards
    OMIM gene information: 609749    OMIM disorders: --


    UXS1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): UXS1
    Human Genome Epidemiology (HuGE) Navigator: UXS1 (5 documents)

    Export disorders for UXS1 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 UXS1 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with UXS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (2009)
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    6. 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)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    9. The SQV-1 UDP-glucuronic acid decarboxylase and the SQV-7 nucleotide- sugar transporter may act in the Golgi apparatus to affect Caenorhabditis elegans vulval morphogenesis and embryonic development. (PubMed id 12391314)1, 2 Hwang H.-Y. and Horvitz H.R. (2002)
    10. Human UDP-a-d-xylose synthase forms a catalytically im portant tetramer that has not been observed in crystal structures. (PubMed id 23656592)1 Polizzi S.J....Wood Z.A. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 80146 HGNC: 17729 AceView: UXS1 Ensembl:ENSG00000115652 euGenes: HUgn80146
    ECgene: UXS1 Kegg: 80146 H-InvDB: UXS1

    (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 UXS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for UXS1 gene:
    Search GeneIP for patents involving UXS1

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



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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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