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

NT5C3 Gene

protein-coding   GIFtS: 60
GCID: GC07M033053

5'-nucleotidase, cytosolic III

 Explore 13 diseases affiliated with
NT5C3 via our new
 Human Malady Compendium 
Biological research products
for NT5C3
    

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

Aliases
5'-Nucleotidase, Cytosolic III1 2     HUMP11
UMPH11 2 3 5     Pyrimidine 5'-Nucleotidase 12 3
P5'N-11 2 3     Uridine 5'-Monophosphate Hydrolase 12 3
PN-I1 2 3     P5N-12 3
CN-III1     EC 3.1.3.53 8
P361     Cytosolic 5'-Nucleotidase 32
PSN11 2 5     Lupin1
POMP1 2     P5N13
UMPH1 2     Cytosolic 5'-Nucleotidase III3

External Ids:    HGNC: 178201   Entrez Gene: 512512   Ensembl: ENSG000001226437   OMIM: 6062245   UniProtKB: Q9H0P03   

Export aliases for NT5C3 gene to outside databases

Previous GC identifers: GC07M032696 GC07M032795 GC07M032826 GC07M033020 GC07M032932


(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 NT5C3:
This gene encodes a member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside
5'-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5' nucleotidase and catalyzes the
dephosphorylation of pyrimidine 5' monophosphates. Mutations in this gene are a cause of hemolytic anemia due to
uridine 5-prime monophosphate hydrolase deficiency. Alternatively spliced transcript variants encoding multiple
isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3
and 4. (provided by RefSeq, Mar 2012)

UniProtKB/Swiss-Prot: 5NT3_HUMAN, Q9H0P0
Function: Can act both as nucleotidase and as phosphotransferase

Gene Wiki entry for NT5C3


(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_000007.13  NC_018918.1  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NT5C3 gene promoter:
         AREB6   Nkx2-2   ATF-2   RelA   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NT5C3 promoter sequence
   Search SABiosciences Chromatin IP Primers for NT5C3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NT5C3


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

Entrez Gene cytogenetic band: 7p14.3   Ensembl cytogenetic band:  7p14.3   HGNC cytogenetic band: 7p14.3

NT5C3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NT5C3 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M033053:  view genomic region     (about GC identifiers)

Start:
33,053,742 bp from pter      End:
33,102,409 bp from pter
Size:
48,668 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 33,098,287-33,146,958     

(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: 5NT3_HUMAN, Q9H0P0 (See protein sequence)
Recommended Name: Cytosolic 5'-nucleotidase 3  
Size: 336 amino acids; 37948 Da
Subunit: Monomer
Subcellular location: Cytoplasm (Potential)
Subcellular location: Isoform 2: Endoplasmic reticulum
Sequence caution: Sequence=AAF36153.1; Type=Erroneous initiation; Sequence=AAG33630.1; Type=Frameshift;
Positions=Several;
3 PDB 3D structures from and Proteopedia for NT5C3:
2CN1 (3D)        2JGA (3D)        2VKQ (3D)    
Secondary accessions: A8K253 B2RAA5 B8ZZC4 Q6IPZ1 Q6NXS6 Q7L3G6 Q9P0P5 Q9UC42 Q9UC43 Q9UC44 Q9UC45
Alternative splicing: 4 isoforms:  Q9H0P0-4   Q9H0P0-1   Q9H0P0-2   Q9H0P0-3   

Explore the universe of human proteins at neXtProt for NT5C3: NX_Q9H0P0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H0P0

  • 4 DME Specific Peptides for NT5C3 (Q9H0P0)
     DFDMTLSRF  FIFSAGIGD  ELLEKYMDSY  IICGLIKGGA 

    NT5C3 Protein expression data from MOPED and PaxDb:    About this image 
    NT5C3 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001002009.1  NP_001002010.1  NP_001159590.1  NP_057573.2  

    ENSEMBL proteins: 
     ENSP00000389676   ENSP00000379456   ENSP00000242210   ENSP00000387166   ENSP00000387205  
     ENSP00000401161   ENSP00000385261   ENSP00000371039  
    Reactome Protein details: Q9H0P0
    Human Recombinant Protein Products for NT5C3: 
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    Uscn Proteins for NT5C3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA8557639
    GO:0005739mitochondrion IEA--
    GO:0005783endoplasmic reticulum IDA8557639
    GO:0005829cytosol TAS--

    NT5C3 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for NT5C3


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

    NT5C3 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR006434 Pyrimidine_nucleotidase_eu
     IPR023214 HAD-like_dom

    Graphical View of Domain Structure for InterPro Entry Q9H0P0

    ProtoNet protein and cluster: Q9H0P0

    1 Blocks protein family: IPB000847 Bacterial regulatory protein LysR

    UniProtKB/Swiss-Prot: 5NT3_HUMAN, Q9H0P0
    Similarity: Belongs to the pyrimidine 5'-nucleotidase family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 5NT3_HUMAN, Q9H0P0
    Function: Can act both as nucleotidase and as phosphotransferase
    Catalytic activity: A 5'-ribonucleotide + H(2)O = a ribonucleoside + phosphate
    Biophysicochemical properties: Kinetic parameters: KM=66 uM for CMP;
    Induction: Isoform 2 is induced by interferon alpha in Raji cells in association with lupus inclusions

         Enzyme Number (IUBMB): EC 3.1.3.51 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0000287magnesium ion binding NAS11795870
    GO:00082535'-nucleotidase activity NAS12930399
    GO:00086652'-phosphotransferase activity TAS10942414
         
    NT5C3 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for NT5C3 

    miRNA
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    miRTarBase miRNAs that target NT5C3:
    hsa-mir-30a (MIRT005184)

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    SwitchGear 3'UTR luciferase reporter plasmidNT5C3 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NT5C3


    (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 - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1NAD metabolism
    NAD metabolism1.00
    Nicotinate and nicotinamide metabolism0.43
    NAD metabolism1.00
    2Pyrimidine metabolism
    Pyrimidine metabolism1.00
    Pyrimidine catabolism0.50
    3Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    4Purine metabolism
    Purine metabolism1.00
    Pyrimidine metabolism0.38
    5purine nucleotides degradation II (aerobic)
    purine nucleotides degradation II (aerobic)1.00
    adenosine nucleotides degradation II0.67

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for NT5C3
        NAD metabolism


    1 GeneGo (Thomson Reuters) Pathway for NT5C3
        NAD metabolism

    2 BioSystems Pathways for NT5C3 
        adenosine nucleotides degradation II
    purine nucleotides degradation II (aerobic)

    4        Reactome Pathways for NT5C3
        Metabolism of nucleotides
    Metabolism
    Pyrimidine catabolism
    Pyrimidine metabolism


    4         Kegg Pathways  (Kegg details for NT5C3):
        Purine metabolism
    Pyrimidine metabolism
    Nicotinate and nicotinamide metabolism
    Metabolic pathways


    NT5C3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NT5C3

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

    5/81 Interacting proteins for NT5C3 (ENSP000002422104) via UniProtKB, MINT, STRING, and/or I2D (see all 81)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADSLENSP000002161944STRING: ENSP00000216194
    AMPD1ENSP000003165204STRING: ENSP00000316520
    CMPK2ENSP000002567224STRING: ENSP00000256722
    DCKENSP000002866484STRING: ENSP00000286648
    DCTDENSP000003495764STRING: ENSP00000349576
    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:0006206pyrimidine nucleobase metabolic process TAS--
    GO:0006213pyrimidine nucleoside metabolic process NAS10942414
    GO:0009117nucleotide metabolic process IEA--
    GO:0044281small molecule metabolic process TAS--
    GO:0046085adenosine metabolic process ----

    NT5C3 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

    NT5C3 for compounds           About GeneDecksing

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

    Browse Tocris compounds for NT5C3

    10/29 HMDB Compounds for NT5C3 (see all 29)    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--
    6 Novoseek chemical compound relationships for NT5C3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyrimidine 81.4 15 7479251 (2), 9428647 (2), 11795870 (2), 10942414 (2) (see all 10)
    poly c 75.1 1 15604219 (1)
    poly u 64.1 2 15604219 (1)
    cytarabine 51.6 1 9428647 (1)
    nucleoside 43.4 1 9428647 (1)
    glucose 6-phosphate 39.3 2 11148207 (1), 16522554 (1)

    Search CenterWatch for drugs/clinical trials and news about NT5C3 / 5NT3 

    (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, Sirion Biotech, 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 NT5C3 gene (4 alternative transcripts): 
    NM_001002009.2  NM_001002010.2  NM_001166118.2  NM_016489.12  

    Unigene Cluster for NT5C3:

    5'-nucleotidase, cytosolic III
    Hs.487933  [show with all ESTs]
    Unigene Representative Sequence: NM_001166118
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000456458(uc003tdj.3 uc003tdk.3) ENST00000396152 ENST00000242210
    ENST00000473083 ENST00000409467 ENST00000409787 ENST00000461851 ENST00000464840
    ENST00000449201 ENST00000497542 ENST00000405342 ENST00000381626(uc022abo.1 uc003tdi.3)


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    Additional cDNA sequence: 

    AF151067.1 AF312735.1 AK290118.1 AK314109.1 AL136716.1 BC013292.2 BC015856.1 BC066914.1 
    BC071652.1 CR533518.1 

    16 DOTS entries:

    DT.75103500  DT.99986656  DT.455441  DT.121048627  DT.95100293  DT.100642191  DT.307805  DT.97774996 
    DT.100699082  DT.100709786  DT.92432016  DT.100716356  DT.121253318  DT.307806  DT.102839769  DT.97769065 

    24/165 AceView cDNA sequences (see all 165):

    AI886529 AL136716 AI355453 BM972199 AW241179 BI835398 CB107833 BM689748 
    AA101745 BC071652 BQ084562 AF090932 AA669376 AA482595 AA262441 AI886768 
    AI401386 CR597528 CA487640 AA210952 CR616013 CB127255 AI086218 CA430274 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for NT5C3 (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for NT5C3

    (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

    NT5C3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTTTAAGTA
    NT5C3 Expression
    About this image

    NT5C3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LiverLiver LobuleLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See NT5C3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NT5C3

    SOURCE GeneReport for Unigene cluster: Hs.487933

    UniProtKB/Swiss-Prot: 5NT3_HUMAN, Q9H0P0
    Tissue specificity: Isoform 1 and isoform 3 are expressed in reticulocytes and lymphocytes. Isoform 4 is expressed only
    in reticulocytes

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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 common ancestor of eukaryotes.

    Orthologs for NT5C3 gene from 7/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves NT5C31 5'-nucleotidase, cytosolic III 80.35(n)
    87.02(a)
      395080  NM_204436.2  NP_989767.1 
    lizard
    (Anolis carolinensis)
    Reptilia NT5C36
    --
    85(a)
    1 ↔ 1
    6(45374544-45414383)
    zebrafish
    (Danio rerio)
    Actinopterygii wufb30h072 wufb30h07 76.36(n)   321720  BC054650.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG33623   -- 38(a)   60C2   --
    worm
    (Caenorhabditis elegans)
    Secernentea F25B5.3a3
    Y10G11A.11
    Protein Y10G11A.11 38(a)
    (best of 4)3
    50.12(n)1
    39.13(a)1
      III(6022222-6024993)3
    1784571  NM_171424.21  NP_741496.21 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G386801 5'-nucleotidase / magnesium ion binding protein 51.85(n)
    38.52(a)
      818450  NM_129425.4  NP_181402.4 
    rice
    (Oryza sativa)
    Liliopsida Os03g06489001 hypothetical protein 49.09(n)
    37.82(a)
      4333582  NM_001057316.1  NP_001050781.2 


    ENSEMBL Gene Tree for NT5C3 (if available)
    TreeFam Gene Tree for NT5C3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NT5C3 gene
    NT5C3B2  
    1 SIMAP similar gene for NT5C3 using alignment to 4 protein entries:     5NT3_HUMAN (see all proteins):
    NT5C3B

    NT5C3 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for NT5C3
    PGOHUM00000238133 PGOHUM00000245669


    (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

    10/924 NCBI SNPs in NT5C3 are shown (see all 924    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048940291,2
    Cpathogenic33099902(-) CCCAAC/GGAGAC 8 R G mis10--------
    rs1048940281,2
    Cpathogenic33101622(-) GTCCAA/GTTTTA 8 N S mis10--------
    rs1048940271,2
    Cpathogenic33101648(-) GTTTAG/TCATCC 8 * Y stg10--------
    rs1048940251,2
    Cpathogenic33105476(-) AGTTGA/TTCCTG 8 D V mis10--------
    rs672138401,2
    C--32950852(+) CCTGTT/-AATCC 4 -- int11Minor allele frequency- -:0.00NA 2
    rs64624461,2
    C,F,A,H--33053281(+) ATCACA/GGTCAA 4 -- ds500129Minor allele frequency- G:0.32NA NS EA WA CSA 2916
    rs1162156661,2
    --33053376(+) AGAGAT/AGCTGG 4 -- ds50011Minor allele frequency- A:0.01WA 118
    rs1908208451,2
    --33053420(+) ACCACA/GAGACC 4 -- ds50010--------
    rs1473222161,2
    --33053432(+) AGCTCC/TACTGC 4 -- ds50010--------
    rs1393811231,2
    --33053495(+) AAATGA/GGAGAA 4 -- ds50010--------

    HapMap Linkage Disequilibrium report for NT5C3 (33053742 - 33102409 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NT5C3: --
    Human Gene Mutation Database (HGMD): NT5C3

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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

    NT5C3 for disorders           About GeneDecksing

    OMIM gene information: 606224   
    OMIM disorders: 266120  
    UniProtKB/Swiss-Prot: 5NT3_HUMAN, Q9H0P0
  • Defects in NT5C3 are the cause of P5N deficiency (P5ND) [MIM:266120]; also called hemolytic anemia due to P5N
  • deficiency or hemolytic anemia due to UMPH1 deficiency. P5ND is an autosomal recessive condition causing hemolytic
    anemia characterized by marked basophilic stipplig and the accumulation of high concentrations of pyrimidine
    nucleotides within the erythrocyte. It is implicated in the anemia of lead poisoning and is possibly associated with
    learning difficulties

    13 diseases for NT5C3:    About MalaCards
    hemolytic anemia    anemia    congenital nonspherocytic hemolytic anemia    exotropia
    acute myeloid leukemia    intrahepatic cholangiocarcinoma    myeloid leukemia    essential hypertension
    cholangiocarcinoma    hypertension    ovarian carcinoma    leukemia
    carcinoma

    2 Novoseek disease relationships for NT5C3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anemia hemolytic 77.7 4 16522554 (1), 10942414 (1), 16956825 (1), 11369620 (1)
    hemolysis 32.7 1 15604219 (1)

    Human Genome Epidemiology (HuGE) Navigator: NT5C3 (1 document)

    Export disorders for NT5C3 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 NT5C3 gene, integrated from 9 sources (see all 42):
    (articles sorted by number of sources associating them with NT5C3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human erythrocyte pyrimidine 5-nucleotidase, PN-I, is identical to p36, a protein associated to lupus inclusion formation in response to alpha-interferon. (PubMed id 10942414)1, 2, 3, 9 Amici A....Magni G. (2000)
    2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2, 3 Zhang Q.-H.... Chen Z. (2000)
    3. Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency. (PubMed id 11369620)1, 2, 9 Marinaki A.M.... Rees D.C. (2001)
    4. Purification, microsequencing, and immunolocalization of p36, a new interferon-alpha-induced protein that is associated with human lupus inclusions. (PubMed id 8557639)1, 2, 9 Rich S.A.... Rudofsky U.H. (1996)
    5. Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency. (PubMed id 12930399)1, 2, 9 Bianchi P.... Zanella A. (2003)
    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. Molecular basis of Japanese variants of pyrimidine 5'-nucleotidase deficiency. (PubMed id 15238149)1, 2 Kanno H.... Fujii H. (2004)
    8. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    9. Cytosolic 5'-nucleotidase III (NT5C3): gene sequence variation and functional genomics. (PubMed id 19623099)1, 9 Aksoy P....Wang L. (2009)
    10. Human erythrocyte pyrimidine 5'-nucleotidase, PN-I. (PubMed id 11795870)1, 9 Amici A. and Magni G. (2002)

    (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: 51251 HGNC: 17820 AceView: NT5C3 Ensembl:ENSG00000122643 euGenes: HUgn51251
    ECgene: NT5C3 Kegg: 51251 H-InvDB: NT5C3

    (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 NT5C3 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 NT5C3 gene:
    Search GeneIP for patents involving NT5C3

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



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