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FLASH GENE
Symbol NPAT contributors: mct/npt/pgu - updated : 13-06-2014
HGNC name nuclear protein, ataxia-telangiectasia locus
HGNC id 7896
DNA
TYPE functioning gene
STRUCTURE 65.25 kb     18 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Map cen - ACAT1 - 3' - NPAT - 5' - 5' - TRIM29 - 3' - qter
Text see AT
regionally located mapped upstream to the AT locus, in opposite orientation, likely transcribed from a bidirectional promote
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
18 - 5962 154.2 1427 - 1997 9205109
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine  highly
 mouthtongue  highly
Lymphoid/Immunelymph node   highly
Reproductivefemale systembreastmammary gland highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
  • NPAT family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in a key S phase event and provide a link between the cell cycle machinery and activation of histone gene transcription
  • Cajal body-associated protein that is an essential downstream component of the cyclin E/Cdk2 signaling pathway and functions to coordinate multiple elements of the G1/S transition
  • playing a critical role in coordinated transcriptional activation of histone genes during the G(1)/S-phase transition and in S-phase entry
  • play an essential role in the transcriptional activation of histone genes at the G(1)/S-phase transition
  • recruits the TRRAP-KAT5 complex to histone gene promoters to coordinate the transcriptional activation of multiple histone genes during the G(1)/S-phase transition
  • CCND2 and the CDK substrate NPAT are required for self-renewal of human embryonic stem cells
  • essential for histone mRNA 3 prime end processing and recruits CDK9 to replication-dependent histone genes
  • implicated in nodular lymphocyte predominant Hodgkin lymphoma predisposition
  • is a crucial factor in regulating histone transcription and cell cycle progression
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    CCNE1/CDK2/NPAT/HINFP pathway that is required for cell cycle-dependent activation of histone H4 genes at the G1/S phase transition
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • substrate of the cyclin E-CDK2 complex
  • links E2F to the activation of S-phase-specific histone gene transcription
  • interacting with the 3'end processing marker LSM10 (but not the Cajal Body marker coilin) and reflecting the assembly of an integrated factory for histone gene expression (in situ co-localization of NPAT and LSM10 is disrupted in cervical carcinoma cells)
  • interacting with TP53 (TP53 decreases the expression of the histone-specific transcriptional regulator NPAT by inducing a G1 cell-cycle arrest, thereby affecting E2F-dependent transcription of the NPAT gene)
  • EP300 and SIRT1 were recruited to histone gene promoters in an NPAT-dependent manner
  • HSPE1 is a novel interacting partner of NPAT
  • cell & other
    REGULATION
    activated by E2F proteins
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    deregulation playing a role in the pathogenesis of B-cell chronic lymphocytic leukaemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS