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NT5C Gene

protein-coding   GIFtS: 63
GCID: GC17M073123

5', 3'-Nucleotidase, Cytosolic

(Previous names: 5' nucleotidase, deoxy (pyrimidine), cytosolic type C, uridine...)
(Previous symbol: UMPH2)
  See NT5C-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
5', 3'-Nucleotidase, Cytosolic1 2     DNT2
UMPH21 2 3 5     HEL742
DNT12 3 5     P5N22
5' Nucleotidase, Deoxy (Pyrimidine), Cytosolic Type C1 2     PN-I2
Uridine 5-Prime Monophosphate Hydrolase 21 2     PN-II2
Cytosolic 5',3'-Pyrimidine Nucleotidase2 3     cdN2
Deoxy-5'-Nucleotidase 12 3     Epididymis Luminal Protein 742
dNT-12 3     Uridine 5'-Monophosphate Phosphohydrolase 22
5'(3')-Deoxyribonucleotidase, Cytosolic Type2     EC 3.1.3.-3

External Ids:    HGNC: 171441   Entrez Gene: 308332   Ensembl: ENSG000001254587   OMIM: 1917205   UniProtKB: Q8TCD53   

Export aliases for NT5C gene to outside databases

Previous GC identifers: GC17M076185 GC17M073590 GC17M073723 GC17M070637 GC17M068536


(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 NT5C Gene:
This gene encodes a nucleotidase that catalyzes the dephosphorylation of the 5' deoxyribonucleotides (dNTP) and
2'(3')-dNTP and ribonucleotides, but not 5' ribonucleotides. Of the different forms of nucleotidases
characterized, this enzyme is unique in its preference for 5'-dNTP. It may be one of the enzymes involved in
regulating the size of dNTP pools in cells. Alternatively spliced transcript variants have been found for this
gene. (provided by RefSeq, Nov 2011)

GeneCards Summary for NT5C Gene:
NT5C (5', 3'-nucleotidase, cytosolic) is a protein-coding gene. Diseases associated with NT5C include norwegian scabies, and scabies. GO annotations related to this gene include pyrimidine nucleotide binding and nucleotidase activity. An important paralog of this gene is NT5M.

UniProtKB/Swiss-Prot: NT5C_HUMAN, Q8TCD5
Function: Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides, with a preference for dUMP and
dTMP, intermediate activity towards dGMP, and low activity towards dCMP and dAMP

Gene Wiki entry for NT5C 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_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NT5C gene promoter:
         USF1   p53   USF2   Pax-2   USF-1:USF-2   Pax-2a   LCR-F1   Ik-2   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNT5C promoter sequence
   Search Chromatin IP Primers for NT5C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NT5C


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

Entrez Gene cytogenetic band: 17q25.1   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25

NT5C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NT5C gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M073123:  view genomic region     (about GC identifiers)

Start:
73,126,320 bp from pter      End:
73,127,890 bp from pter
Size:
1,571 bases      Orientation:
minus 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: NT5C_HUMAN, Q8TCD5 (See protein sequence)
Recommended Name: 5'(3')-deoxyribonucleotidase, cytosolic type  
Size: 201 amino acids; 23383 Da
Cofactor: Magnesium
Subunit: Homodimer
1 PDB 3D structure from and Proteopedia for NT5C:
2I7D (3D)    
Secondary accessions: Q96HS6 Q9NP82
Alternative splicing: 2 isoforms:  Q8TCD5-1   Q8TCD5-2   (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for NT5C: NX_Q8TCD5

Explore proteomics data for NT5C at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NT5C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001239306.1  NP_055410.1  

    ENSEMBL proteins: 
     ENSP00000462712   ENSP00000462123   ENSP00000245552   ENSP00000462697   ENSP00000462455  
     ENSP00000463947   ENSP00000461927   ENSP00000462981  
    Reactome Protein details: Q8TCD5

    NT5C Human Recombinant Protein Products:

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    Novus Biologicals NT5C Protein
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    antibodies-online proteins for NT5C (4 products) 

     
    antibodies-online peptides for NT5C

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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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    IUPHAR Guide to PHARMACOLOGY protein family classification: 5'(3')-nucleotidase
    Adenosine turnover

    2 InterPro protein domains:
     IPR023214 HAD-like_dom
     IPR010708 5'(3')-deoxyribonucleotidase

    Graphical View of Domain Structure for InterPro Entry Q8TCD5

    ProtoNet protein and cluster: Q8TCD5

    1 Blocks protein domain: IPB010708 5 nucleotidase

    UniProtKB/Swiss-Prot: NT5C_HUMAN, Q8TCD5
    Similarity: Belongs to the 5'(3')-deoxyribonucleotidase family


    Find genes that share domains with NT5C           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: NT5C_HUMAN, Q8TCD5
    Function: Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides, with a preference for dUMP and
    dTMP, intermediate activity towards dGMP, and low activity towards dCMP and dAMP

         Enzyme Number (IUBMB): EC 3.1.3.-1

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008252nucleotidase activity IDA10681516
    GO:00082535'-nucleotidase activity EXP--
    GO:0016791phosphatase activity ----
    GO:0019103pyrimidine nucleotide binding IDA10681516
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with NT5C           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for NT5C

    miRNA
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    miRTarBase miRNAs that target NT5C:
    hsa-mir-320a (MIRT044494)

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    1 qRT-PCR Assays for microRNA that regulate NT5C:
    hsa-miR-3194-5p
    SwitchGear 3'UTR luciferase reporter plasmidNT5C 3' UTR sequence
    Inhib. RNA
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    Sino Biological Human cDNA Clone for NT5C
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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
    NT5C_HUMAN, Q8TCD5: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    extracellular2
    mitochondrion2
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA10681516
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with NT5C           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 NT5C About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Nicotinate and nicotinamide metabolism
    Nicotinate and nicotinamide metabolism0.43
    NAD metabolism0.43
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Purine metabolism (REACTOME)
    Purine metabolism0.42
    Purine catabolism0.00
    Metabolism of nucleotides0.42
    4Purine metabolism (KEGG)
    Purine metabolism0.38
    Pyrimidine metabolism0.38
    5Pyrimidine metabolism
    Pyrimidine metabolism0.33
    Pyrimidine catabolism0.00


    Find genes that share SuperPaths with NT5C           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for NT5C
        NAD metabolism


    2 Reactome Pathways for NT5C
        Pyrimidine catabolism
    Purine catabolism

    2 PharmGKB Pathways for NT5C
        Gemcitabine Pathway, Pharmacodynamics
    Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics

    4 Kegg Pathways  (Kegg details for NT5C):
        Purine metabolism
    Pyrimidine metabolism
    Nicotinate and nicotinamide metabolism
    Metabolic pathways

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NT5C
    Interactions:

        Search GeneGlobe Interaction Network for NT5C

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

    Selected Interacting proteins for NT5C (Q8TCD53 ENSP000002455524) via UniProtKB, MINT, STRING, and/or I2D (see all 83)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDA1Q9BW613I2D: score=1 
    UBA5Q9GZZ93I2D: score=1 
    ADAENSP000003619654STRING: ENSP00000361965
    ADKENSP000002866214STRING: ENSP00000286621
    AMPD1ENSP000003165204STRING: ENSP00000316520
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006195purine nucleotide catabolic process TAS--
    GO:0006206pyrimidine nucleobase metabolic process TAS--
    GO:0009223pyrimidine deoxyribonucleotide catabolic process IDA10681516
    GO:0009264deoxyribonucleotide catabolic process ----

    Find genes that share ontologies with NT5C           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 NT5C

    Selected HMDB Compounds for NT5C (see all 28)    About this table
    CompoundSynonyms CAS #PubMed Ids
    2'-Deoxyguanosine 5'-monophosphate2'-Deoxy-5'-GMP (see all 21)902-04-5--
    5-Thymidylic acid2'-Deoxythymidine 5'-monophosphate (see all 28)365-07-1--
    Adenosine1-(6-amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose (see all 32)58-61-7--
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Cytidine1-(b-D-Ribofuranosyl)-2-oxo-4-amino-1,2-dihydro-1,3-diazine (see all 20)65-46-3--
    Cytidine monophosphate5'-CMP (see all 14)63-37-6--
    Deoxyadenosine1-(6-amino-9H-purin-9-yl)-1,2-dideoxy-b-D-Ribofuranose (see all 22)958-09-8--
    Deoxyadenosine monophosphate2'-Deoxy-5'-adenylate (see all 24)653-63-4--
    Deoxycytidine1-(2-Deoxy-b-D-ribofuranosyl)cytosine (see all 15)951-77-9--
    Deoxyguanosine2'-Deoxyguanosine (see all 11)961-07-9--

    7 Novoseek inferred chemical compound relationships for NT5C gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    deoxycytidine 76.7 1 11083867 (1)
    pyrimidine 63.9 4 9428647 (2), 8125061 (1), 12406912 (1)
    cytidine 62.7 2 11083867 (1), 12406912 (1)
    nucleoside 61.5 1 9428647 (1)
    cytarabine 52.3 1 9428647 (1)
    zidovudine 50.4 2 9428647 (1)
    thymidine 44.1 1 11083867 (1)



    Find genes that share compounds with NT5C           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 NT5C gene (2 alternative transcripts): 
    NM_001252377.1  NM_014595.2  

    Unigene Cluster for NT5C:

    5', 3'-nucleotidase, cytosolic
    Hs.67201  [show with all ESTs]
    Unigene Representative Sequence: AK094291
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000582160 ENST00000580758 ENST00000583655(uc002jmy.3) ENST00000245552(uc002jmx.3 uc021ucw.1)
    ENST00000578407 ENST00000582744 ENST00000580423 ENST00000577523 ENST00000584352
    ENST00000582170 ENST00000579023 ENST00000578337 ENST00000578095 ENST00000579082

    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    AF147311.1 AF154829.2 AK000419.1 AK094291.1 BC002516.2 BC017454.1 BC022334.1 BC047763.1 
    NR_045513.1 

    11 DOTS entries:

    DT.95222905  DT.100016691  DT.99980510  DT.92429074  DT.92429076  DT.100794832  DT.100794829  DT.95222904 
    DT.75103791  DT.100794833  DT.120946526 

    Selected AceView cDNA sequences (see all 157):

    AI609054 AI927481 AW517988 BM756256 BM717403 BU731508 AI184822 AF150132 
    BU631050 BQ892838 AF147311 BM756156 BC047763 BQ689003 AI569600 BM755891 
    CF541339 BU627693 AF154829 AI739315 AI424283 BQ887838 AI446271 BQ069045 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NT5C (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d · 5e · 5f · 5g
    SP1:              -     -     -     -                       -                                                   
    SP2:              -     -     -     -                                                                           
    SP3:                                                                                                            
    SP4:                                                        -                                                   
    SP5:                                                        -                                                   


    ECgene alternative splicing isoforms for NT5C

    (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)
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    NT5C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAATACAGT
    NT5C Expression
    About this image


    NT5C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    NT5C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NT5C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.67201

    UniProtKB/Swiss-Prot: NT5C_HUMAN, Q8TCD5
    Tissue specificity: Detected in skeletal muscle, heart and pancreas

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NT5C

    (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 chordates.

    Orthologs for NT5C gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nt5c1 , 5 5',3'-nucleotidase, cytosolic1, 5 85.96(n)1
    84.77(a)1
      11 (80.84 cM)5
    507731  NM_015807.11  NP_056622.11 
     1154904205 
    lizard
    (Anolis carolinensis)
    Reptilia NT5C6
    5', 3'-nucleotidase, cytosolic
    66(a)
    1 ↔ 1
    2(114780198-114786081)


    ENSEMBL Gene Tree for NT5C (if available)
    TreeFam Gene Tree for NT5C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NT5C gene
    NT5M2  
    1 SIMAP similar gene for NT5C using alignment to 6 protein entries:     NT5C_HUMAN (see all proteins):
    NT5M

    Find genes that share paralogs with NT5C           About GenesLikeMe


    3 Pseudogenes.org Pseudogenes for NT5C
    PGOHUM00000262885 PGOHUM00000262890 PGOHUM00000247856


    (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)
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    Selected SNPs for NT5C (see all 98)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1817482161,2
    --68539204(+) ACATGC/TAATAG 3 -- us2k10--------
    rs2014829581,2
    --68539534(+) AAAAA-/GCCTGA 3 -- us2k10--------
    rs1996944681,2
    --73126862(+) TGTCCC/TTGTCA 4 K R mis1 int10--------
    rs1400475791,2
    C,F--73126866(+) CTTGTC/TATCAA 4 N D mis1 int11Minor allele frequency- T:0.00NA 4552
    rs1915707581,2
    C--73126879(+) AGCAGA/GTCCCC 4 D syn1 int10--------
    rs2013748001,2
    --73126908(+) CCTTGC/TCAGGA 4 T A mis1 int10--------
    rs1435750101,2
    C,F--73126932(+) GAACTG/AGGGCC 4 /Q /* stg1 int11Minor allele frequency- A:0.00NA 4504
    rs1468266021,2
    C,F--73126934(+) ACTGGG/AGCCCC 4 /P /L mis1 int11Minor allele frequency- A:0.00NA 4490
    rs10487791,2
    C--73126938(-) ACCTGA/GGGCCC 4 R G mis1 int10--------
    rs99100841,2
    C,F,H--73127024(+) AGGGAG/CTTGGC 3 -- int114Minor allele frequency- C:0.01NA WA CSA EU 855

    HapMap Linkage Disequilibrium report for NT5C (73126320 - 73127890 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for NT5C:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv908756CNV Loss21882294
    nsv908758CNV Loss21882294
    nsv470602CNV Loss18288195
    nsv908757CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NT5C
    DNA2.0 Custom Variant and Variant Library Synthesis for NT5C

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 191720    OMIM disorders: --

    3 diseases for NT5C:    
    About MalaCards
    norwegian scabies    scabies    acute myeloid leukemia

    2 diseases from the University of Copenhagen DISEASES database for NT5C:
    Autoimmune lymphoproliferative syndrome     Norwegian scabies

    Find genes that share disorders with NT5C           About GenesLikeMe

    Genetic Association Database (GAD): NT5C
    Human Genome Epidemiology (HuGE) Navigator: NT5C (1 document)

    Export disorders for NT5C 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 NT5C gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with NT5C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mouse cytosolic and mitochondrial deoxyribonucleotidases: cDNA cloning of the mitochondrial enzyme, gene structures, chromosomal mapping and comparison with the human orthologs. (PubMed id 12234672)1, 2, 9 Rampazzo C....Bianchi V. (Gene 2002)
    2. A deoxyribonucleotidase in mitochondria: involvement in regulation of dNTP pools and possible link to genetic disease. (PubMed id 10899995)1, 3, 9 Rampazzo C....Bianchi V. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Molecular characterization of Turkish patients with pyrimidine 5' nucleotidase-I deficiency. (PubMed id 12714505)1, 4 Balta G....Altay C. (Blood 2003)
    7. Mammalian 5'(3')-deoxyribonucleotidase, cDNA cloning, and overexpression of the enzyme in Escherichia coli and mammalian cells. (PubMed id 10681516)1, 2 Rampazzo C.... Bianchi V. (J. Biol. Chem. 2000)
    8. Crystal structures of human and murine deoxyribonucleotidases: insights into recognition of substrates and nucleotide analogues. (PubMed id 17985935)2, 9 Wallden K.... Nordlund P. (Biochemistry 2007)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 30833 HGNC: 17144 AceView: NT5C Ensembl:ENSG00000125458 euGenes: HUgn30833
    ECgene: NT5C Kegg: 30833 H-InvDB: NT5C

    (According to HUGE)
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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 NT5C Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for NT5C gene:
    Search GeneIP for patents involving NT5C

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



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