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FLASH GENE
Symbol PAXIP1 contributors: mct/npt/pgu - updated : 11-05-2018
HGNC name PAX interacting (with transcription-activation domain) protein 1
HGNC id 8624
Location 7q36.2      Physical location : 154.735.400 - 154.794.682
Synonym name
  • PAX transcription activation domain interacting protein 1 like
  • protein encoded by CAG trinucleotide repeats
  • Synonym symbol(s) MCAG32, CAGF28, PAXIP1L, CAGF29, FLJ41049, PTIP, TNRC2, PACIP1
    DNA
    TYPE functioning gene
    STRUCTURE 59.28 kb     21 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 3723 - 1069 - 2007 17500065
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon moderately
     stomach   predominantly
    Nervousbrain    
    Reproductivefemale systemuteruscervix moderately
    Respiratorylung   moderately
    Skin/Tegumentskin   highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six tandem BRCT domains
  • N-terminal PA1 binding domain and the C-terminal focus-localization domain are critical for PAXIP1 function in DNA damage repair , it is a unusually long Q-rich domain that functions in DNA repair
  • C-terminal BRCT domains also required for stable retention PAXIP1 at sites of DNA damage but independantly of binding to TP53BP1 (the BRCT domains play important roles in the cellular response to DNA damage)
  • mono polymer homomer , heteromer , dimer , complex
    HOMOLOGY
    interspecies ortholog to murine Paxip1
    Homologene
    FAMILY BRCT-domain containing protein family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    text
  • upon exposure to ionizing radiation, localizes to nuclear foci that are sites of DNA damage and repair
  • basic FUNCTION
  • involved in the base excision repair (BER) pathway, by catalysing the poly (ADP-ribosyl)ation of a limited number of acceptor proteins involved in chromatin architecture
  • and in DNA metabolism
  • being an essential element of the cell proliferation machinery, perhaps by functioning in the DNA repair pathways
  • required for the maintenance of genome stability
  • facilitating ATM-mediated activation of TP53 and promoting cellular resistance to ionizing radiation
  • may have a potential role in the regulation of gene expression
  • implicated in DNA damage response
  • bridges DNA-binding developmental regulators to histone methyltransferase-dependent epigenetic regulation
  • recruited to DNA damage sites via the RNF8-dependent pathway and is required for cell survival in response to DNA damage
  • implicated in DNA damage response
  • regulates TP53BP1-dependent signaling pathway following DNA damage
  • nuclear protein that is part of a histone H3K4 methyltransferase complex and is essential for embryonic development
  • role of PAXIP1 in maintaining embryonic stem cell pluripotency
  • promotes chromatin changes critical for immunoglobulin class switch recombination
  • importance of PAXIP1 in the DNA repair process associated with the development of mature spermatozoa
  • PAXIP1 status correlates with breast cancer staging, in a manner similar to what has been characterized for TP53BP1
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of a base excision repair (BER) complex containing at least XRCC1, PARP2, POLB and LIG3
  • homo- and heterodimer with PARP2
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PARP3
  • APTX
  • PAXIP1 and RPA1, both involved in DNA replication and DNA repair, are HLTF-interacting proteins although cells depleted of HLTF did not show defects in cellular responses to DNA damage
  • specific interaction between the mutant androgen receptor (AR), a protein associated with spinal and bulbar muscular atrophy (SBMA), and the nuclear protein PAXIP1
  • may likely interact with poly-Q expansion disease proteins through its naturally occurring Q domain and this interaction may inhibit essential functions like DNA repair and gene regulation
  • is recruited to a PAX5 binding site to promote histone H3 lysine 4 (H3K4) methylation
  • TP53BP1 promotes productive class switch recombination (CSR) and suppresses mutagenic DNA repair through distinct phosphodependent interactions with RIF1 and PAXIP1
  • PITX2 associates with PAXIP1-containing histone H3 lysine 4 methyltransferase complex
  • DCLRE1C is a PAXIP1-binding protein
  • PPM1B can dephosphorylate the PAX2 activation domain and displace the adaptor protein PAXIP1, thus inhibiting H3K4 methylation and gene activation
  • cell & other
    REGULATION
    Other regulated by RNF8 (RNF8 controls DNA damage-induced nuclear foci formation of PAXIP1, which in turn regulates TP53BP1 localization to the DNA damage sites
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to Alzheimer disease
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS