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NPAT Gene

protein-coding   GIFtS: 57
GCID: GC11M108062

Nuclear Protein, Ataxia-Telangiectasia Locus

  See 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
Nuclear Protein, Ataxia-Telangiectasia Locus1 2     p2202 3
E142 3 5     E14/NPAT2
Nuclear Protein Of The Ataxia Telangiectasia Mutated Locus2 3     Protein NPAT2
Nuclear Protein Of The ATM Locus2 3     CAND33

External Ids:    HGNC: 78961   Entrez Gene: 48632   Ensembl: ENSG000001493087   OMIM: 6014485   UniProtKB: Q142073   

Export aliases for NPAT gene to outside databases

Previous GC identifers: GC11M110222 GC11M109384 GC11M107565 GC11M107533 GC11M103953


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for NPAT Gene:
NPAT (nuclear protein, ataxia-telangiectasia locus) is a protein-coding gene. Diseases associated with NPAT include ataxia telangiectasia, and ataxia. GO annotations related to this gene include transcription corepressor activity and sequence-specific DNA binding transcription factor activity.

UniProtKB/Swiss-Prot: NPAT_HUMAN, Q14207
Function: Required for progression through the G1 and S phases of the cell cycle and for S phase entry. Activates
transcription of the histone H2A, histone H2B, histone H3 and histone H4 genes in conjunction with MIZF. Also
positively regulates the ATM, MIZF and PRKDC promoters. Transcriptional activation may be accomplished at least
in part by the recruitment of the NuA4 histone acetyltransferase (HAT) complex to target gene promoters

Gene Wiki entry for NPAT 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:
NC_000011.10  NC_018922.2  NT_033899.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the NPAT gene promoter:
         c-Fos   TBP   RP58   AP-1   Sp1   GATA-3   CUTL1   MZF-1   TFIID   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNPAT promoter sequence
   Search Chromatin IP Primers for NPAT

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


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

Entrez Gene cytogenetic band: 11q22-q23   Ensembl cytogenetic band:  11q22.3   HGNC cytogenetic band: 11q22-q23

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M108062:  view genomic region     (about GC identifiers)

Start:
108,027,942 bp from pter      End:
108,093,369 bp from pter
Size:
65,428 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NPAT_HUMAN, Q14207 (See protein sequence)
Recommended Name: Protein NPAT  
Size: 1427 amino acids; 154290 Da
Subunit: Interacts with the cylin/CDK complexes CCNE1/CDK2 and CCNA1/CDK2. Interacts with BZW1, CASP8AP2, CREBBP,
MIZF and YY1. Interacts with the RUVBL1, RUVBL2 and TRRAP subunits of the NuA4 complex. May also interact with
GAPDH, NME1, NME2 and STIP1
Developmental stage: Expressed throughout the cell cycle. Expression peaks at the G1/S phase boundary and declines
during S phase
Sequence caution: Sequence=AAB02735.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. A chimeric cDNA
originating from chromosomes 11 and 4; Sequence=AAH40356.1; Type=Miscellaneous discrepancy; Note=Contaminating
sequence. Potential poly-A sequence; Sequence=AAH50561.1; Type=Miscellaneous discrepancy; Note=Contaminating
sequence. Potential poly-A sequence;
Secondary accessions: A8K1V5 A8K6M2 Q13632 Q14967 Q16580 Q86W55 Q8IWE9

Explore the universe of human proteins at neXtProt for NPAT: NX_Q14207

Explore proteomics data for NPAT at MOPED

Post-translational modifications: 

  • Phosphorylated at Ser-775, Ser-779, Ser-1100, Thr-1270 and Thr-1350 by CCNE1/CDK2 at G1-S transition and until
    prophase, which promotes association with histone gene clusters and stimulates activation of histone
    transcription. Also phosphorylated by CCNA1/CDK2 in vitro1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_002510.2  
    ENSEMBL proteins: 
     ENSP00000278612   ENSP00000436510   ENSP00000433497  

    NPAT Human Recombinant Protein Products:

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    LSBio Antibodies in human, mouse, rat for NPAT

    NPAT Assay Products:

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    Cloud-Clone Corp. CLIAs for NPAT


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR006594 LisH_dimerisation

    Graphical View of Domain Structure for InterPro Entry Q14207

    ProtoNet protein and cluster: Q14207

    1 Blocks protein domain: IPB006594 Lissencephaly type-1-like homology motif

    UniProtKB/Swiss-Prot: NPAT_HUMAN, Q14207
    Domain: The LisH domain is required for the activation of histone gene transcription
    Similarity: Belongs to the NPAT family
    Similarity: Contains 1 LisH domain


    NPAT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NPAT_HUMAN, Q14207
    Function: Required for progression through the G1 and S phases of the cell cycle and for S phase entry. Activates
    transcription of the histone H2A, histone H2B, histone H3 and histone H4 genes in conjunction with MIZF. Also
    positively regulates the ATM, MIZF and PRKDC promoters. Transcriptional activation may be accomplished at least
    in part by the recruitment of the NuA4 histone acetyltransferase (HAT) complex to target gene promoters
    Induction: By expression of E2F1, E2F2, E2F3 and E2F4. Expression is reduced in response to radiation-induced DNA
    damage

         Genatlas biochemistry entry for NPAT:
    nuclear protein,mapped upstream to the AT locus,in opposite orientation,likely transcribed from a bidirectional
    promoter,with homology

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IDA18850719
    GO:0003713transcription coactivator activity IMP15988025
    GO:0003714transcription corepressor activity IMP17163457
    GO:0005515protein binding IPI18850719
    GO:0008022protein C-terminus binding IPI15988025
         
    NPAT for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for NPAT:
     Increased S DNA content, incre  Increased gamma-H2AX phosphory  S arrest 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NPAT
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NPAT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NPAT
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NPAT

    miRNA
    Products:
        
    miRTarBase miRNAs that target NPAT:
    hsa-mir-17-5p (MIRT000261)

    Block miRNA regulation of human, mouse, rat NPAT using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NPAT (see all 48):
    hsa-miR-142-5p hsa-miR-3607-3p hsa-miR-19b-2* hsa-miR-4328 hsa-miR-4272 hsa-miR-106a hsa-miR-301a hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmidNPAT 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NPAT
    Predesigned siRNA for gene silencing in human, mouse, rat NPAT

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for NPAT

    Clone
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    OriGene clones in human, mouse for NPAT (see all 6)
    OriGene ORF clones in mouse, rat for NPAT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NPAT (NM_002519)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPAT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPAT

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPAT


    (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
    NPAT_HUMAN, Q14207: Nucleus. Nucleus, Cajal body. Note=Concentrates in two Cajal bodies tethered to histone gene
    clusters at chromosome 6p21 during G1, S and G2 phases. Also concentrates in two additional Cajal bodies tethered
    to histone gene clusters at chromosome 1q21 specifically during S and G2 phases
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    extracellular1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0015030Cajal body IDA15988025

    NPAT for ontologies           About GeneDecksing


    (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 NPAT About    
    See pathways by source

    SuperPathContained pathways About
    1RB in Cancer
    RB in Cancer


    1 BioSystems Pathway for NPAT
        RB in Cancer


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

        GeneGlobe Interaction Network for NPAT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for NPAT (Q142073 ENSP000002786124) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CREBBPQ927933, ENSP000002623674I2D: score=2 STRING: ENSP00000262367
    POU2F1P148593, ENSP000002714114I2D: score=2 STRING: ENSP00000271411
    GAPDHP044063, ENSP000002292394I2D: score=1 STRING: ENSP00000229239
    TRRAPQ9Y4A53, ENSP000003477334I2D: score=1 STRING: ENSP00000347733
    STIP1P319483, ENSP000003059584I2D: score=1 STRING: ENSP00000305958
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000083regulation of transcription involved in G1/S transition of mitotic cell cycle IMP15988025
    GO:0006351transcription, DNA-templated IEA--
    GO:0010468regulation of gene expression IMP15988025
    GO:0045893positive regulation of transcription, DNA-templated IDA18850719

    NPAT for ontologies           About GeneDecksing



    (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 NPAT



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NPAT gene: 
    NM_002519.2  

    Unigene Cluster for NPAT:

    Nuclear protein, ataxia-telangiectasia locus
    Hs.171061  [show with all ESTs]
    Unigene Representative Sequence: NM_002519
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000278612(uc010rvv.2 uc001pjz.4) ENST00000530926 ENST00000530859
    ENST00000527296 ENST00000610253 ENST00000531384
    miRNA
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    Block miRNA regulation of human, mouse, rat NPAT using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NPAT (see all 48):
    hsa-miR-142-5p hsa-miR-3607-3p hsa-miR-19b-2* hsa-miR-4328 hsa-miR-4272 hsa-miR-106a hsa-miR-301a hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmidNPAT 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Predesigned siRNA for gene silencing in human, mouse, rat NPAT
    Clone
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    OriGene clones in human, mouse for NPAT (see all 6)
    OriGene ORF clones in mouse, rat for NPAT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NPAT (NM_002519)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPAT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPAT
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for NPAT
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NPAT
      QuantiTect SYBR Green Assays in human, mouse, rat NPAT
      QuantiFast Probe-based Assays in human, mouse, rat NPAT

    Additional mRNA sequence: 

    AK290020.1 AK291687.1 AK301256.1 BC040356.1 BC050561.2 BC094769.1 BC136270.1 D83243.1 
    U58852.1 X97186.1 

    11 DOTS entries:

    DT.213329  DT.100750015  DT.100781743  DT.100781744  DT.100007970  DT.120760373  DT.75169744  DT.92050432 
    DT.95265556  DT.95265560  DT.95288015 

    Selected AceView cDNA sequences (see all 86):

    BC050561 AA419560 AW118709 AA292597 BU657468 AU118596 AA969959 AA305136 
    AU120202 AI572283 BC040356 BF109016 AI961122 AA284172 BI834063 BM476474 
    AI499564 AA316491 BE614200 AW009438 BI835955 BV183692 BG290456 BP378752 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for NPAT    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b
    SP1:              -                                                                             -                                                   
    SP2:                                                                                                                                                
    SP3:                                                                                                                                                
    SP4:                                                                                                                                -               


    ECgene alternative splicing isoforms for NPAT

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

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

    NPAT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.171061

    UniProtKB/Swiss-Prot: NPAT_HUMAN, Q14207
    Tissue specificity: Ubiquitously expressed

        Custom PCR Arrays for NPAT
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPAT

    (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 NPAT gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Npat1 , 5 nuclear protein in the AT region1, 5 81.79(n)1
    75.51(a)1
      9 (29.12 cM)5
    2448791  NM_001081152.11  NP_001074621.11 
     535370475 
    chicken
    (Gallus gallus)
    Aves NPAT1 nuclear protein, ataxia-telangiectasia locus 61.24(n)
    53.13(a)
      418967  XM_417161.4  XP_417161.4 
    lizard
    (Anolis carolinensis)
    Reptilia NPAT6
    nuclear protein, ataxia-telangiectasia locus
    44(a)
    1 ↔ 1
    GL343659.1(264386-288941)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.82062 Transcribed sequence with weak similarity to protein more 75.41(n)    142020219 
    zebrafish
    (Danio rerio)
    Actinopterygii npat1 nuclear protein, ataxia-telangiectasia locus 54.27(n)
    48(a)
      552973  XM_685884.4  XP_690976.3 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for NPAT gene
    Selected SIMAP similar genes for NPAT using alignment to 4 protein entries:     NPAT_HUMAN (see all proteins) (see all similar genes):
    GNPTAB    SUN3    NSRP1    C12orf23    ZNF568    THADA
    TMEM67    ATL2    LRRC36    FAM3A    QTRT1    C19orf47
    LRTOMT    CNOT2    ECD    ZNHIT3    C15orf40    CLEC2D

    NPAT for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), 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 NPAT (see all 1329)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1913615111,2
    --108027912(+) TAGCAG/TTTCCT 1 -- int10--------
    rs1162587751,2
    C,F--108028056(+) AGAACT/CGACTT 1 -- int11Minor allele frequency- C:0.05WA 118
    rs1817150871,2
    --108028281(+) AATTAA/GGAAGA 1 -- ut310--------
    rs1869044011,2
    --108028320(+) TTAAAA/GTTGGA 1 -- ut310--------
    rs1907347721,2
    --108028419(+) TAATAC/TACTGA 1 -- ut310--------
    rs1832262831,2
    --108028578(+) CACCTC/TTCTCA 1 -- ut310--------
    rs1438097711,2
    --108028581(+) CTCTCC/TCATCT 1 -- ut310--------
    rs37589101,2
    C,F,H--108028670(-) ACTATA/GTCTAT 1 -- ut3111Minor allele frequency- G:0.07EA NS 2360
    rs1472369901,2
    --108028691(+) ACCCAC/TTGTAG 1 -- ut310--------
    rs1879393211,2
    --108028730(+) CTCTTC/TTTACA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for NPAT (108027942 - 108093369 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for NPAT:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670718CNV Deletion23128226
    dgv1315n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): NPAT
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NPAT
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601448    OMIM disorders: --

    8 diseases for NPAT:    
    About MalaCards
    ataxia telangiectasia    ataxia    lissencephaly    conjunctivitis
    cervical cancer    hodgkin's lymphoma    cervicitis    breast cancer

    1 disease from the University of Copenhagen DISEASES database for NPAT:
    Ataxia telangiectasia

    NPAT for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for NPAT gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 0.395 2 16861913 (2)

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

    Export disorders for NPAT 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 NPAT gene, integrated from 10 sources (see all 63):
    (articles sorted by number of sources associating them with NPAT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The structure and organization of the human NPAT gene. (PubMed id 9205109)1, 2, 3 Imai T.... Hori T. (Genomics 1997)
    2. NPAT expression is regulated by E2F and is essential for cell cycle progression. (PubMed id 12665581)1, 2, 9 Gao G.... Zhao J. (Mol. Cell. Biol. 2003)
    3. Expression of NPAT, a novel substrate of cyclin E-CDK2, promotes S- phase entry. (PubMed id 9472014)1, 2, 9 Zhao J.... Harlow E. (Genes Dev. 1998)
    4. Identification and characterization of a new gene physically linked to the ATM gene. (PubMed id 8743993)1, 2, 9 Imai T.... Hori T. (Genome Res. 1996)
    5. NPAT links cyclin E-Cdk2 to the regulation of replication-dependent histone gene transcription. (PubMed id 10995386)1, 2, 9 Zhao J.... Harlow E. (Genes Dev. 2000)
    6. S phase activation of the histone H2B promoter by OCA-S, a coactivator complex that contains GAPDH as a key component. (PubMed id 12887926)1, 2, 9 Zheng L.... Luo Y. (Cell 2003)
    7. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    9. Transcriptional activation of histone genes requires NPAT-dependent recruitment of TRRAP-Tip60 complex to histone promoters during the G1/S phase transition. (PubMed id 17967892)1, 2 DeRan M.... Zhao J. (Mol. Cell. Biol. 2008)
    10. The HiNF-P/p220NPAT cell cycle signaling pathway controls nonhistone target genes. (PubMed id 17974976)1, 2 Medina R.... Stein G.S. (Cancer Res. 2007)

    (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: 4863 HGNC: 7896 AceView: NPAT Ensembl:ENSG00000149308 euGenes: HUgn4863
    ECgene: NPAT H-InvDB: NPAT

    (According to HUGE)
    About This Section

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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 NPAT 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 NPAT gene:
    Search GeneIP for patents involving NPAT

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



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