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NT5C3A Gene

protein-coding   GIFtS: 49
GCID: GC07M033056

5'-Nucleotidase, Cytosolic IIIA

(Previous names: 5'-nucleotidase, cytosolic III)
(Previous symbol: NT5C3)
  See NT5C3A-related disease
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'-Nucleotidase, Cytosolic IIIA1 2     cN-III2 3
NT5C31 2 3 5     p362 3
UMPH12 3 5     PSN12 5
5'-Nucleotidase, Cytosolic III1 2     POMP2
lupin1 2     UMPH2
Cytosolic 5'-Nucleotidase 32 3     Cytosolic 5'-Nucleotidase 3A2
Pyrimidine 5'-Nucleotidase 12 3     hUMP12
Uridine 5'-Monophosphate Hydrolase 12 3     EC 3.1.3.53
P5'N-12 3     P5N13
P5N-12 3     Cytosolic 5'-Nucleotidase III3
PN-I2 3     

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

Export aliases for NT5C3A gene to outside databases


(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 NT5C3A Gene:
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)

GeneCards Summary for NT5C3A Gene:
NT5C3A (5'-nucleotidase, cytosolic IIIA) is a protein-coding gene. Diseases associated with NT5C3A include anemia, hemolytic, due to umph1 deficiency. GO annotations related to this gene include 5'-nucleotidase activity and nucleotide binding. An important paralog of this gene is NT5C3B.

UniProtKB/Swiss-Prot: 5NT3A_HUMAN, Q9H0P0
Function: Can act both as nucleotidase and as phosphotransferase

Gene Wiki entry for NT5C3A (NT5C3) 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_000007.13  NC_018918.2  NT_007819.18  
Regulatory elements:
   Search for regulatory transcription factor binding sites for NT5C3A
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNT5C3A promoter sequence
   Search Chromatin IP Primers for NT5C3A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NT5C3A


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

NT5C3A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NT5C3A gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M033056:  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, 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: 5NT3A_HUMAN, Q9H0P0 (See protein sequence)
Recommended Name: Cytosolic 5'-nucleotidase 3A  
Size: 336 amino acids; 37948 Da
Subunit: Monomer
Sequence caution: Sequence=AAF36153.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAG33630.1; Type=Frameshift; Positions=Several;
3 PDB 3D structures from and Proteopedia for NT5C3A:
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 NT5C3A: NX_Q9H0P0

Explore proteomics data for NT5C3A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys204
  • Modification sites at PhosphoSitePlus

  • See NT5C3A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001002009.1  NP_001002010.1  NP_001159590.1  NP_057573.2  

    ENSEMBL proteins: 
     ENSP00000476480   ENSP00000389676   ENSP00000379456   ENSP00000242210   ENSP00000387166  
     ENSP00000387205   ENSP00000401161   ENSP00000385261   ENSP00000371039  

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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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    2 InterPro protein domains:
     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 domain: IPB000847 Bacterial regulatory protein LysR

    UniProtKB/Swiss-Prot: 5NT3A_HUMAN, Q9H0P0
    Similarity: Belongs to the pyrimidine 5'-nucleotidase family


    Find genes that share domains with NT5C3A           About GenesLikeMe


    (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,
    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: 5NT3A_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

         Gene Ontology (GO): 4 molecular function terms:    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
         
    Find genes that share ontologies with NT5C3A           About GenesLikeMe


    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target NT5C3A:
    hsa-mir-16-5p (MIRT031382), hsa-mir-122-5p (MIRT007081), hsa-mir-320a (MIRT044479), hsa-mir-30a-5p (MIRT005184)

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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
    5NT3A_HUMAN, Q9H0P0: Cytoplasm (Potential)
    5NT3A_HUMAN, Q9H0P0: Isoform 2: Endoplasmic reticulum

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    Find genes that share ontologies with NT5C3A           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 NT5C3A About    
    See pathways by source

    SuperPathContained pathways About
    1Purine metabolism (REACTOME)
    Metabolism of nucleotides0.42
    adenosine nucleotides degradation0.00
    purine nucleotides degradation0.00
    2Nicotinate and nicotinamide metabolism
    Nicotinate and nicotinamide metabolism0.43
    NAD metabolism0.43
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4Purine metabolism (KEGG)
    Purine metabolism0.38
    Pyrimidine metabolism0.38
    5Pyrimidine metabolism
    Pyrimidine metabolism0.33
    Pyrimidine catabolism0.00


    Find genes that share SuperPaths with NT5C3A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for NT5C3A
        NAD metabolism

    2 BioSystems Pathways for NT5C3A
        adenosine nucleotides degradation
    purine nucleotides degradation


    4 Kegg Pathways  (Kegg details for NT5C3A):
        Purine metabolism
    Pyrimidine metabolism
    Nicotinate and nicotinamide metabolism
    Metabolic pathways

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NT5C3A
    Interactions:

        Search GeneGlobe Interaction Network for NT5C3A

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

    Selected Interacting proteins for NT5C3A (ENSP000002422104) via UniProtKB, MINT, STRING, and/or I2D (see all 81)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADSLENSP000002161944STRING: ENSP00000216194
    ADSSENSP000003554934STRING: ENSP00000355493
    AK1ENSP000003622494STRING: ENSP00000362249
    AMPD1ENSP000003165204STRING: ENSP00000316520
    CMPK2ENSP000002567224STRING: ENSP00000256722
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    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:0016311dephosphorylation NAS12930399
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with NT5C3A           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 NT5C3A (5NT3A)

    6 Novoseek inferred chemical compound relationships for NT5C3A 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)



    Find genes that share compounds with NT5C3A           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 NT5C3A gene (4 alternative transcripts): 
    NM_001002009.2  NM_001002010.2  NM_001166118.2  NM_016489.12  

    Unigene Cluster for NT5C3A:

    5'-nucleotidase, cytosolic IIIA
    Hs.487933  [show with all ESTs]
    Unigene Representative Sequence: NM_001166118
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000610140 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 mRNA 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 

    Selected AceView cDNA sequences (see all 165):

    AA262441 CR616013 AA101745 AI086218 CB127255 AW241179 AI355453 CR597528 
    AA482595 CA430274 BM689748 BM972199 AA210952 BC071652 AA428421 AI886529 
    CB107833 BI835398 AF090932 CA487640 AI886768 AA669376 AI401386 BQ084562 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NT5C3A (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 NT5C3A

    (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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    NT5C3A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NT5C3A Expression
    About this image

    NT5C3A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NT5C3A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.487933

    UniProtKB/Swiss-Prot: 5NT3A_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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    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for NT5C3A gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nt5c31 , 5 5'-nucleotidase, cytosolic III1, 5 86.61(n)1
    93.66(a)1
      6 (27.75 cM)5
    1075691  NM_026004.31  NP_080280.31 
     568824005 
    chicken
    (Gallus gallus)
    Aves NT5C3A1 5'-nucleotidase, cytosolic III 80.35(n)
    87.02(a)
      395080  NM_204436.2  NP_989767.1 
    lizard
    (Anolis carolinensis)
    Reptilia NT5C3A6
    5'-nucleotidase, cytosolic IIIA
    78(a)
    1 ↔ 1
    6(45372794-45415091)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nt5c3a1 5'-nucleotidase, cytosolic IIIA 75.06(n)
    79.72(a)
      100145170  NM_001126665.1  NP_001120137.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb30h072 wufb30h07 76.36(n)   321720  BC054650.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG33626
    --
    34(a)
    1 → many
    2R(20083065-20084550)
    worm
    (Caenorhabditis elegans)
    Secernentea Y10G11A.11 Y10G11A.1 50.12(n)
    39.13(a)
      178457  NM_001268963.1  NP_001255892.1 


    ENSEMBL Gene Tree for NT5C3A (if available)
    TreeFam Gene Tree for NT5C3A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NT5C3A gene
    NT5C3B2  
    1 SIMAP similar gene for NT5C3A using alignment to 4 protein entries:     5NT3A_HUMAN (see all proteins):
    NT5C3B

    Find genes that share paralogs with NT5C3A           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for NT5C3A
    PGOHUM00000238133 PGOHUM00000245669


    (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 NT5C3A (see all 1088)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0235134
    P5N deficiency (P5ND)4--see VAR_0235132 N S mis40--------
    VAR_0235144
    P5N deficiency (P5ND)4--see VAR_0235142 G R mis40--------
    VAR_0235124
    P5N deficiency (P5ND)4--see VAR_0235122 L P mis40--------
    VAR_0235114
    P5N deficiency (P5ND)4--see VAR_0235112 D V mis40--------
    rs1048940291,2
    Cpathogenic133027890(-) CCCAAC/GGAGAC 8 R G mis10--------
    rs1048940281,2
    Cpathogenic133029609(-) GTCCAA/GTTTTA 8 N S mis10--------
    rs1048940271,2
    Cpathogenic133029635(-) GTTTAG/TCATCC 8 * Y stg10--------
    rs1048940261,2
    Cpathogenic133029649(-) TTCGTC/TAAGCT 8 Q * stg10--------
    rs1048940251,2
    Cpathogenic133033462(-) AGTTGA/TTCCTG 8 D V mis10--------
    rs64624461,2
    C,F,A,H--33025814(+) ATCACA/GGTCAA 4 -- ds500129Minor allele frequency- G:0.32NA NS EA WA CSA 2916

    HapMap Linkage Disequilibrium report for NT5C3A (33053742 - 33102409 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for NT5C3A: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NT5C3A
    DNA2.0 Custom Variant and Variant Library Synthesis for NT5C3A

    (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.)
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    OMIM gene information: 606224   
    OMIM disorders: 266120  
    UniProtKB/Swiss-Prot: 5NT3A_HUMAN, Q9H0P0
  • P5N deficiency (P5ND) [MIM:266120]: Autosomal recessive condition causing hemolytic anemia characterized
    by marked basophilic stippling 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 1 disease for NT5C3A:    
    About MalaCards
    anemia, hemolytic, due to umph1 deficiency


    Find genes that share disorders with NT5C3A           About GenesLikeMe

    2 Novoseek inferred disease relationships for NT5C3A 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)


    Export disorders for NT5C3A 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 NT5C3A gene, integrated from 10 sources (see all 48):
    (articles sorted by number of sources associating them with NT5C3A)
        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. (Blood 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. (Genome Res. 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. (Blood 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. (J. Biol. Chem. 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. (Br. J. Haematol. 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. (Genome Res. 2004)
    7. Molecular basis of Japanese variants of pyrimidine 5'-nucleotidase deficiency. (PubMed id 15238149)1, 2 Kanno H.... Fujii H. (Br. J. Haematol. 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. (Genome Res. 2001)
    9. Cytosolic 5'-nucleotidase III (NT5C3): gene sequence variation and functional genomics. (PubMed id 19623099)1, 9 Aksoy P....Wang L. (Pharmacogenet. Genomics 2009)
    10. Human erythrocyte pyrimidine 5'-nucleotidase, PN-I. (PubMed id 11795870)1, 9 Amici A. and Magni G. (Arch. Biochem. Biophys. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 51251 HGNC: 17820 AceView: NT5C3 Ensembl:ENSG00000122643 euGenes: HUgn51251
    ECgene: NT5C3A Kegg: 51251 H-InvDB: NT5C3A

    (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)
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    NameDescription
    PharmGKB entry for NT5C3A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NT5C3A gene:
    Search GeneIP for patents involving NT5C3A

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



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