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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
Location 11q22.3      Physical location : 108.028.120 - 108.093.365
Synonym name nuclear protein of the ATM locus
Synonym symbol(s) CAND3, E14, p220
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