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FLASH GENE
Symbol DZIP1 contributors: mct - updated : 11-06-2022
HGNC name DAZ interacting protein 1
HGNC id 20908
Corresponding disease
SPGF47 spermatogenic failure 47
Location 13q32.1      Physical location : 96.230.456 - 96.296.957
Synonym name
  • related to murine hyaluronan-mediated motility receptor
  • zinc-finger protein DZIP1
  • DAZ interacting protein testis1
  • Iguana
    • Synonym symbol(s) KIAA0996, DZIP, DZIPt1, Igu, MVP3
    DNA
    TYPE functioning gene
    STRUCTURE 66.50 kb     22 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 7441 - 848 - 2017 27979967
  • DZIP t1
  • 2 alternative exons at the N -terminus
    • 22 - 7498 - 867 - 2017 27979967
  • DZIP t2
  • 4 proline residues
    		•
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
    Reproductivefemale systemovary  highly
     male systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivegerm cell
    Reproductivespermatogonia
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text stem cells and germ cells, fetal brain , ovary, testis
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    		a C2H2-type zinc finger
    HOMOLOGY
    interspecies homolog to murine hyaluronan-mediated motility receptor
    homolog to rat Dzip1
    Homologene
    FAMILY
    CATEGORY motor/contractile , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,granule
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text
  • localize to the nucleus and cytoplasm of primordial germ cells
  • localize to the basal bodies of primary cilia and, together, are required for primary cilia formation
  • localizes to the primary cilium and is required for its proper formation
  • predominantly located in granules in the cytoplasm
    • basic FUNCTION
  • Iguana proteins (DZIP1 and DZIP1L) localize to the basal bodies of primary cilia and, together, are required for primary cilia formation
  • critical and broadly conserved function for Iguana is in ciliogenesis and that this function has come to be required for Hedgehog signaling in vertebrates
  • is required for ciliogenesis
  • is the first known ciliogenic protein that regulates Hedgehog signaling through a dual mechanism and that biochemically links intraflagellar transport (IFT) machinery with Hedgehog pathway components
  • has bipartite positive and negative functions in the Hh pathway
  • appears to be important for the formation of stress granules during the stress response
  • DZIP1 is involved in the Hedgehog signaling pathway
  • is likely a component of different ribonucleoproteins associated with translating polysomes and with RNA granules
  • unique cascade consisting of GSK3B, DZIP1, and RAB8A that regulates ciliogenesis after mitosis
  • centrosome protein DZIP1 mediates the assembly of the BBSome-DZIP1-PCM1 complex in the centriolar satellites (CS) at the G0 phase for ciliary translocation of the BBSome
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • DZIP1 interacts with GLI3, a transcriptional regulator for Hedgehog signaling, and prevents GLI3 from entering the nucleus
  • DZIP1 regulates the stability of SPOP independent of its function in ciliogenesis
  • DZIP1 interacts with DAZ RNA binding proteins in embryonic stem cells and human germ cells suggesting a role in mRNA regulation
    • cell & other
    REGULATION
    Other phosphorylation of DZIP1 at Ser-210 by PLK1 during the G2 phase promotes disassembly of this complex, resulting in removal of DZIP1 and the BBSome from the centriolar satellites (CS)
    ASSOCIATED DISORDERS
    corresponding disease(s) SPGF47
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS