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FLASH GENE
Symbol DAZAP1 contributors: mct - updated : 19-02-2018
HGNC name DAZ associated protein 1
HGNC id 2683
Location 19p13.3      Physical location : 1.407.583 - 1.435.680
Synonym name
  • deleted in azoospermia associated protein 1
  • testicular tissue protein Li 50
  • Synonym symbol(s) MGC19907, Li 50
    DNA
    TYPE functioning gene
    STRUCTURE 28.12 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 splicing 2304 - 378 - 2016 26871637
  • variant 1 (DAZAPO1)
  • 12 splicing 2215 - 407 - 2016 26871637
    variant 2 (DAZAP1L)
    11 - 2132 - 234 - 2016 26871637
    DAZAP1S
    12 - 2212 - 406 - 2016 26871637
    12 - 2212 - 406 - 2016 26871637
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis  highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatid Homo sapiens
    Reproductivespermatocyte Homo sapiens
    cell lineage germinal cells
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two N terminal RNA binding motifs, RNP
  • RNA recognition motif, near the N-terminus, that may interact with binding partners (Yang 2009)
  • C-terminal proline-rich domain of DAZAP1 interacts with and neutralizes general splicing inhibitors, and is sufficient to activate splicing when recruited to pre-mRNA
  • HOMOLOGY
    interspecies homolog to murine Dazap1
    Homologene
    FAMILY
    CATEGORY RNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    text
  • predominantly in the nucleus and moves between the nucleus and the cytoplasm via a ZNS shuttling signal at its C-terminus
  • basic FUNCTION
  • involved in the spermatogenesis
  • playing a role, in cooperation with HNRNPA1 and HNRNPD, in processes such as mRNA transport and turnover (Yang 2009)
  • may cooperate with several HNRNPs to regulate ARE-containing mRNAs (Yang 2009)
  • stimulates translation initiation
  • ubiquitous hnRNP protein required for normal development and spermatogenesis
  • implicated in RNA transcription, splicing, and translation
  • RNA-binding protein involved in mammalian development and spermatogenesis, promoting inclusion of weak exons through specific recognition of diverse cis-elements
  • plays a pivotal role in the development of germ and somatic cells
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS reproduction/sex
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • DAZL1, DAZAP2
  • fusion MEF2D/DAZAP1 and/or DAZAP1/MEF2D contribute to leukemogenesis by altering signaling pathways normally regulated by wild-type MEF2D and DAZAP1
  • interaction with DAZ is disrupted by the phosphorylation of DAZAP1 at Thr269 and Thr315 in response to agonists that trigger the activation of ERK2 and the closely (Yang 2009) related ERK1
  • may interact with HNRPND, HNRPNA1, HNRNPAB and DDX20 via the C-terminus (Yang 2009)
  • SLIRP is a N42-binding protein which may regulate DAZAP1 subcellular localization
  • DAZAP1 regulates the splicing of CREM, CRISP2 and POT1 transcripts
  • is a negative regulator of pre-mRNA splicing and may control energy production in mitochondria by regulating COX6C expression
  • cell & other
    REGULATION
    Other phosphorylation by ERK2 induces its dissociation from DAZ
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    with MEF2D in a pre-B acute lymphoblastic leukemia with t(1;19)(q23;p13)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Dazap1 deficiency in mice results in growth retardation and spermatogenic arrest