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

NT5E Gene

protein-coding   GIFtS: 68
GCID: GC06P086216

5'-nucleotidase, ecto (CD73)

(Previous name: 5' nucleotidase (CD73) )
(Previous symbol: NT5)
 Explore 44 diseases affiliated with
NT5E via our new
 Human Malady Compendium 
Biological research products
for NT5E
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
5'-Nucleotidase, Ecto (CD73)1 2     5' Nucleotidase (CD73)1
NT51 2 3 5     5'-Nucleotidase1
CD731 2     E5NT2
EN1     NT2
ENT1     Ecto-5'-Nucleotidase1
5'-NT2 3     Purine 5-Prime-Nucleotidase2
NTE2 3     Ecto-5'-Nucleotidase1
EC 3.1.3.53 8     CD73 Antigen3

External Ids:    HGNC: 80211   Entrez Gene: 49072   Ensembl: ENSG000001353187   OMIM: 1291905   UniProtKB: P215893   

Export aliases for NT5E gene to outside databases

Previous GC identifers: GC06P086106 GC06P086155 GC06P083383


(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 NT5E:
The protein encoded by this gene is a plasma membrane protein that catalyzes the conversion of extracellular
nucleotides to membrane-permeable nucleosides. The encoded protein is used as a determinant of lymphocyte
differentiation. Defects in this gene can lead to the calcification of joints and arteries. Two transcript variants
encoding different isoforms have been found for this gene.(provided by RefSeq, Mar 2011)

UniProtKB/Swiss-Prot: 5NTD_HUMAN, P21589
Function: Hydrolyzes extracellular nucleotides into membrane permeable nucleosides

Gene Wiki entry for NT5E


(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_000006.11  NC_018917.1  NT_007299.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NT5E gene promoter:
         GR   AP-1   GR-beta   ATF-2   SREBP-1c   SREBP-1b   SREBP-1a   c-Jun   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNT5E promoter sequence
   Search SABiosciences Chromatin IP Primers for NT5E

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NT5E


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

Entrez Gene cytogenetic band: 6q14-q21   Ensembl cytogenetic band:  6q14.3   HGNC cytogenetic band: 6q14-q21

NT5E Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NT5E gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P086216:  view genomic region     (about GC identifiers)

Start:
86,159,302 bp from pter      End:
86,205,500 bp from pter
Size:
46,199 bases      Orientation:
plus strand

(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: 5NTD_HUMAN, P21589 (See protein sequence)
Recommended Name: 5'-nucleotidase precursor  
Size: 574 amino acids; 63368 Da
Cofactor: Zinc
Subunit: Homodimer; disulfide-linked
Subcellular location: Cell membrane; Lipid-anchor, GPI-anchor
6 PDB 3D structures from and Proteopedia for NT5E:
4H1S (3D)        4H1Y (3D)        4H2B (3D)        4H2F (3D)        4H2G (3D)        4H2I (3D)    
Secondary accessions: B3KQI8 O75520 Q5W116
Alternative splicing: 2 isoforms:  P21589-1   P21589-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NT5E: NX_P21589

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P21589

  • 4/10 DME Specific Peptides for NT5E (P21589) (see all 10)
     YISKMKV  TGEFLQV  GNPILLNS  YPAVEGRI 

    NT5E Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001191742.1  NP_002517.1  

    ENSEMBL proteins: 
     ENSP00000257770   ENSP00000358660   ENSP00000414674   ENSP00000387630   ENSP00000358665  
    Reactome Protein details: P21589
    Human Recombinant Protein Products: 
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    Uscn Proteins for NT5E

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane TAS--
    GO:0016020membrane TAS2129526
    GO:0031225anchored to membrane IEA--


    NT5E for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for NT5E


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

    NT5E for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR004843 Metallo_PEstase_dom
     IPR006146 5'-Nucleotdase_CS
     IPR008334 5'-Nucleotdase_C
     IPR006179 5_nucleotidase/apyrase

    Graphical View of Domain Structure for InterPro Entry P21589

    ProtoNet protein and cluster: P21589

    2 Blocks protein families:
    IPB006179 Apyrase family signature
    IPB008334 -Nucleotdase_C


    UniProtKB/Swiss-Prot: 5NTD_HUMAN, P21589
    Similarity: Belongs to the 5'-nucleotidase family


    (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: 5NTD_HUMAN, P21589
    Function: Hydrolyzes extracellular nucleotides into membrane permeable nucleosides
    Catalytic activity: A 5'-ribonucleotide + H(2)O = a ribonucleoside + phosphate

    Enzyme Number (IUBMB): EC 3.1.3.51 2

    miRNA
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    miRTarBase miRNAs that target NT5E:
    hsa-mir-155 (MIRT001529), hsa-mir-30a (MIRT005130)

    OriGene 3'-UTR Clone: NT5E
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NT5E
    8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate NT5E (see all 19):
    hsa-miR-411* hsa-miR-30c hsa-miR-193a-3p hsa-miR-379* hsa-miR-657 hsa-miR-578 hsa-miR-30d hsa-miR-4260
    SwitchGear 3'UTR luciferase reporter plasmidNT5E 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0008198ferrous iron binding ----
    GO:00082535'-nucleotidase activity EXP--
    GO:0016788hydrolase activity, acting on ester bonds ----
    GO:0046872metal ion binding IEA--


    NT5E for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for NT5E:
     Decreased melanin production  Increased G2M DNA content 

    Animal Models:
         Mouse knock-outs for NT5E: Nt5etm1Lft Nt5etm1Jsc Nt5etm1Jgsc
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Nt5e):
     behavior/neurological  cardiovascular system  hematopoietic system  homeostasis/metabolism  renal/urinary system 

    NT5E for phenotypes           About GeneDecksing


    (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 - 5/12 super-pathways (see all 12About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Purine metabolism
    Purine metabolism1.00
    Purine catabolism0.30
    Metabolism of nucleotides0.42
    2purine nucleotides degradation II (aerobic)
    purine nucleotides degradation II (aerobic)1.00
    urate biosynthesis/inosine 5-phosphate degradation0.58
    adenosine nucleotides degradation II0.67
    3NAD metabolism
    NAD metabolism1.00
    Nicotinate and nicotinamide metabolism0.43
    NAD metabolism1.00
    4Pyrimidine metabolism
    Pyrimidine metabolism1.00
    Pyrimidine catabolism0.50
    5Metabolism
    Metabolism1.00
    Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for NT5E
        NAD metabolism
    ATP/ITP metabolism


    2 Cell Signaling Technology (CST) Pathways for NT5E
        Neuroscience
    Lymphocyte Signaling

    2 GeneGo (Thomson Reuters) Pathways for NT5E
        NAD metabolism
    ATP/ITP metabolism

    5 BioSystems Pathways for NT5E 
        adenosine nucleotides degradation II
    HIF-1-alpha transcription factor network
    NAD salvage pathway II
    urate biosynthesis/inosine 5-phosphate degradation
    purine nucleotides degradation II (aerobic)

    5/6        Reactome Pathways for NT5E (see all 6)
        Metabolism of nucleotides
    Metabolism
    Purine catabolism
    Purine metabolism
    Pyrimidine catabolism

    1 PharmGKB Pathway for NT5E
        Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics

    4         Kegg Pathways  (Kegg details for NT5E):
        Purine metabolism
    Pyrimidine metabolism
    Nicotinate and nicotinamide metabolism
    Metabolic pathways


    NT5E for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NT5E

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

    5/85 Interacting proteins for NT5E (P215893 ENSP000002577704) via UniProtKB, MINT, STRING, and/or I2D (see all 85)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTBP607093, ENSP000003499604I2D: score=1 STRING: ENSP00000349960
    FN1P027513, ENSP000003468394I2D: score=1 STRING: ENSP00000346839
    LAMA1P253913, ENSP000003743094I2D: score=1 STRING: ENSP00000374309
    AFF1P518253, ENSP000003056894I2D: score=1 STRING: ENSP00000305689
    ADAENSP000003619654STRING: ENSP00000361965
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006164purine nucleotide biosynthetic process ----
    GO:0006195purine nucleotide catabolic process TAS--
    GO:0006196AMP catabolic process IEA--
    GO:0006206pyrimidine nucleobase metabolic process TAS--


    NT5E for ontologies           About GeneDecksing



    (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

    NT5E for compounds           About GeneDecksing

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

    Browse Tocris compounds for NT5E

    2 DrugBank Compounds for NT5E    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pentoxifylline-- 6493-05-6targetinhibitor11752352 16426349
    CytarabineAra-C (see all 26)147-94-4enzymesubstrate19842938

    10/24 Novoseek chemical compound relationships for NT5E gene (see all 24)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    apcp 87.9 4 17487388 (2), 16644754 (1), 17671792 (1)
    epsilon-amp 86.8 5 16418778 (1), 17065216 (1), 11046060 (1), 17471030 (1)
    alpha,beta-methyleneadenosine-5'-diphosphate 83.6 1 17487388 (1)
    purine 57 13 8566797 (2), 8906810 (2), 19253308 (2), 8224905 (1) (see all 8)
    cyclic adp-ribose 42.9 7 15028729 (3), 8906810 (1)
    nucleoside 39.9 9 16644754 (1), 18600539 (1), 16265592 (1), 15028729 (1) (see all 6)
    adenylate 38.3 12 19729987 (2), 9169488 (2), 11046060 (2), 16861292 (1) (see all 7)
    purine nucleoside 36.3 2 7655619 (1), 10343529 (1)
    atp 34.3 13 19729987 (2), 19464286 (1), 19825957 (1), 16799190 (1) (see all 10)
    adp 21.5 3 19464286 (1), 15319286 (1)

    Search CenterWatch for drugs/clinical trials and news about NT5E / 5NTD 

    (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 NT5E gene (2 alternative transcripts): 
    NM_001204813.1  NM_002526.3  

    Unigene Cluster for NT5E:

    5'-nucleotidase, ecto (CD73)
    Hs.153952  [show with all ESTs]
    Unigene Representative Sequence: NM_002526
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000257770(uc003pko.4 uc010kbr.3) ENST00000369646(uc003pkn.3)
    ENST00000416334 ENST00000437581 ENST00000369651

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    hsa-miR-411* hsa-miR-30c hsa-miR-193a-3p hsa-miR-379* hsa-miR-657 hsa-miR-578 hsa-miR-30d hsa-miR-4260
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    Additional cDNA sequence: 

    AK075008.1 AK075083.1 AK314661.1 BC015940.1 BC065937.1 DQ186653.1 X55740.1 

    18 DOTS entries:

    DT.100819418  DT.101954345  DT.100819415  DT.100819421  DT.213229  DT.100819414  DT.100728243  DT.121330217 
    DT.121330067  DT.115575  DT.100819416  DT.92428164  DT.97806655  DT.100676979  DT.121330062  DT.92428162 
    DT.92428163  DT.75115257 

    24/269 AceView cDNA sequences (see all 269):

    AA331558 AI371772 BP364913 BG747902 BF589378 BC015940 AA910593 BQ011191 
    H98118 AI935864 CB132912 AI989471 BE880721 BM761656 BM847311 CB130862 
    BQ010269 BX385710 CD106304 F01662 BG185851 W24986 W51864 AW006723 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for NT5E    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
    SP1:                          -                                       
    SP2:                          -                       -               
    SP3:                                                                  


    ECgene alternative splicing isoforms for NT5E

    (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

    NT5E expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGCCTGCTCA

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

    About this image

    NT5E expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeNeuroblastic LayerEarly Photoreceptor Precursor CellsPhotoreceptors, Retina
    EyeNeuroblastic LayerLate Photoreceptor Precursor CellsPhotoreceptors, Retina
    Umbilical CordWharton's JellyUmbilical Cord Mesenchymal Stem CellsExtraembryonic Tissues, Umbilical Cord
    OvaryAntral FollicleCumulus CellsOvary
    OvaryAntral FollicleCumulus CellsOvary
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/11 LifeMap Cells (see all 11
    NameCategory
    Placenta-derived mesenchymal stem cells (Fetal Stem / Progenitor Cell)Adipose, Bone, Cartilage, Extraembryonic Tissues
    Mesenchymal stem cell (Adult Stem / Progenitor Cell)Bone
    Placenta-derived adherent stromal cell (PLX) (Adult Stem / Progenitor Cell)Extraembryonic Tissues, Placenta
    Endometrial regenerative cell (Adult Stem / Progenitor Cell)Reproductive System
    PureStem™ progenitor SK17 (Embryonic Progenitor Cell)
    Line H7 (WA07) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Mesenchymal Progenitor Cells - Passage 2 (Differentiation of ...)
    Renal CD133+ cells (Renal progenitor (CD...)
    Myofibroblasts/mesenchymal-like cells (Derivation of neural...)
    CD73-positive cells (Generation of skelet...)

    See NT5E Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NT5E

    SOURCE GeneReport for Unigene cluster: Hs.153952
        SABiosciences Expression via Pathway-Focused PCR Arrays including NT5E: 
              Cell Surface Markers in human mouse rat
              Mesenchymal Stem Cell in human mouse rat

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NT5E
    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 last universal common ancestor (LUCA).

    Orthologs for NT5E gene from 7/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nt5e1 , 5 5' nucleotidase, ecto1, 5 85.42(n)1
    86.76(a)1
      9 (47.24 cM)5
    239591  NM_011851.41  NP_035981.11 
     883276095 
    chicken
    (Gallus gallus)
    Aves NT5E1 5'-nucleotidase, ecto (CD73) 65.81(n)
    65.01(a)
      421833  XM_419855.3  XP_419855.2 
    lizard
    (Anolis carolinensis)
    Reptilia NT5E6
    --
    --
    61(a)
    60(a)
    possible ortholog
    1 ↔ 1
    1(196519301-196533278)
    1(176888687-176900867)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.144552 Xenopus laevis transcribed sequence with moderate similarity more 76.69(n)    BJ042561.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc637842 similar to 5' nucleotidase, ecto 76.13(n)   393906  BC055243.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG301043
    veil1
    5' nucleotidase precursor1 39(a)
    (best of 4)3
    48.99(n)1
    41.25(a)1
      369681  NM_137373.21  NP_611217.11 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria ushA6
    bifunctional UDP-sugar hydrolase/5'-nucleotidase
    23(a)
    1 ↔ 1
    Chromosome(504138-505790)


    ENSEMBL Gene Tree for NT5E (if available)
    TreeFam Gene Tree for NT5E (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, 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

    10/736 NCBI SNPs in NT5E are shown (see all 736    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1117134971,2
    --83381623(+) AAAGCC/ACTGAT 2 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs734962421,2
    C,--83381796(+) TCGCCC/TACTGT 2 -- us2k12Minor allele frequency- T:0.08WA 120
    rs781262831,2
    F,--83382349(+) GATCAG/ATTCCC 2 -- us2k11Minor allele frequency- A:0.05WA 118
    rs44632321,2
    C,F,A,--83382448(+) aaacaT/Gccaca 2 -- us2k16Minor allele frequency- G:0.18WA NA EA 364
    rs94502781,2
    C,F,A,H,--83382630(+) attggG/Atcctg 2 -- us2k1 tfbs320Minor allele frequency- A:0.18NS EA NA WA CSA 2346
    rs45996021,2
    C,F,A,H,--83382706(+) agtttC/Tgtatc 2 -- us2k1 tfbs33Minor allele frequency- T:0.50WA NA 6
    rs718234141,2
    C--83382718(+) CTGTT-/AAGTT 
            
    TTTAG
    2 -- us2k10--------
    rs769730451,2
    C,--83382739(+) TGGTTA/GTATAA 2 -- us2k12Minor allele frequency- G:0.07WA 120
    rs44586471,2
    C,F,A,H,--83382793(+) cccttT/Cattac 2 -- us2k120Minor allele frequency- C:0.18NS EA NA WA CSA 2344
    rs760995371,2
    F,--83383509(+) CAACCC/TAACAG 2 -- us2k11Minor allele frequency- T:0.06WA 118

    HapMap Linkage Disequilibrium report for NT5E (86159302 - 86205500 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NT5E: --
    Human Gene Mutation Database (HGMD): NT5E

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    (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

    NT5E for disorders           About GeneDecksing

    OMIM gene information: 129190   
    OMIM disorders: 211800  
    UniProtKB/Swiss-Prot: 5NTD_HUMAN, P21589
  • Defects in NT5E are the cause of calcification of joints and arteries (CALJA) [MIM:211800]. A condition
  • characterized by adult-onset calcification of the lower extremity arteries, including the iliac, femoral and tibial
    arteries, and hand and foot capsule joints. Age of onset has been reported as early as the second decade of life,
    usually involving intense joint pain or calcification in the hands

    20/44 diseases for NT5E (see all 44):    About MalaCards
    calcification of joints and arteries    estrogen-receptor negative breast cancer    pre-eclampsia    beta thalassemia
    chronic obstructive pulmonary disease    haemophilus influenzae    arterial calcification    systemic lupus erythematosus
    aortic aneurysm    lupus erythematosus    inflammatory bowel disease    bronchial asthma
    papillary thyroid carcinoma    acute lymphoblastic leukemia    chronic lymphocytic leukemia    lymphoblastic leukemia
    lymphocytic leukemia    thalassemia    periostitis    varicocele

    1 disease from the University of Copenhagen DISEASES database for NT5E:
    Agammaglobulinemia

    10/12 Novoseek disease relationships for NT5E gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia t-cell 30.5 2 8027539 (1), 2070084 (1)
    zinc deficiency 20.4 3 1940572 (2), 9280142 (1)
    inflammation 15.8 4 14734746 (1), 17911479 (1), 19149741 (1)
    leukemia 0 8 2070084 (4), 8566797 (1)
    primary tumor 0 2 2183704 (1), 17065075 (1)
    breast cancer 0 18 17587186 (4), 17487388 (3), 17671792 (3), 17471030 (2) (see all 5)
    metastasis 0 5 2183704 (1), 17065075 (1), 17587186 (1), 17471030 (1)
    tumors 0 5 8566797 (2), 17487388 (2)
    lymphoma 0 2 8566797 (1)
    melanoma 0 5 17065075 (2), 16718268 (1)

    Human Genome Epidemiology (HuGE) Navigator: NT5E (3 documents)

    Export disorders for NT5E 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 NT5E gene, integrated from 9 sources (see all 287):
    (articles sorted by number of sources associating them with NT5E)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and characterization of the promoter of the human 5'- nucleotidase (CD73)-encoding gene. (PubMed id 8566797)1, 2, 9 Hansen K.R.... Thompson L.F. (1995)
    2. NT5E mutations and arterial calcifications. (PubMed id 21288095)1, 2 St Hilaire C.... Boehm M. (2011)
    3. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (2005)
    4. Primary structure of human placental 5'-nucleotidase and identification of the glycolipid anchor in the mature form. (PubMed id 2129526)1, 2 Misumi Y.... Ikehara Y. (1990)
    5. Characterization of soluble vs membrane-bound human placental 5'- nucleotidase. (PubMed id 2173922)1, 2 Klemens M.R....Thompson L.F. (1990)
    6. Differential regulation and function of CD73, a glycosyl-phosphatidylinositol-linked 70-kD adhesion molecule, on lymphocytes and endothelial cells. (PubMed id 9015312)1, 9 Airas L....Jalkanen S. (1997)
    7. CD73 participates in cellular multiresistance program and protects against TRAIL-induced apoptosis. (PubMed id 18566412)1, 9 Mikhailov A....Eriksson J.E. (2008)
    8. Regulation of endothelial CD73 by adenosine: paracrine pathway for enhanced endothelial barrier function. (PubMed id 11046060)1, 9 Narravula S....Colgan S.P. (2000)
    9. Surface expression, polarization, and functional significance of CD73 in human intestinal epithelia. (PubMed id 9169488)1, 9 Strohmeier G.R....Madara J.L. (1997)
    10. Ecto-enzyme and signaling functions of lymphocyte CD73. (PubMed id 9553767)1, 9 Resta R....Thompson L.F. (1998)

    (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: 4907 HGNC: 8021 AceView: NT5E Ensembl:ENSG00000135318 euGenes: HUgn4907
    ECgene: NT5E Kegg: 4907 H-InvDB: NT5E

    (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 NT5E 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 NT5E gene:
    Search GeneIP for patents involving NT5E

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



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