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FLASH GENE
Symbol POGZ contributors: mct - updated : 14-10-2015
HGNC name pogo transposable element with ZNF domain
HGNC id 18801
Corresponding disease
MRD37 mental retardation, autosomal dominant 37
Location 1q21.3      Physical location : 151.375.199 - 151.431.941
Synonym name
  • suppressor of hairy wing homolog 5 (Drosophila)
  • zinc finger protein 280E
  • putative protein product of Nbla00003
  • Synonym symbol(s) KIAA0461, Nbla00003, KIAA0461, MGC71543, SUHW5, ZNF635m, ZNF280E
    DNA
    TYPE functioning gene
    STRUCTURE 56.74 kb     19 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned   linked   status
    RNA
    TRANSCRIPTS type
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 - 6450 - 1348 - 2016 26942287
    19 - 6618 155.3 1410 . does not appear to be constitutively expressed 2016 26942287
  • isoform 1
  • 18 - 6459 150.1 1357 highly expressed across the majority of tissues, and significantly increased expression in the cerebellum and the pituitary gland 2016 26942287
  • isoform 2
  • 7 - 2239 37.9 363 highly expressed across the majority of tissues, and significantly increased expression in the cerebellum and the pituitary gland 2016 26942287
  • isoform 3
  • 19 - 6609 - 1401 - 2016 26942287
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly Homo sapiens
    Hearing/Equilibriumearinnercochlea highly
    Lymphoid/Immunelymph node   highly
    Nervousbrain     Homo sapiensFetal
     brainhindbraincerebellum highly Homo sapiensAdult
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a transposase domain at the C-terminus
  • 9 C2H2-type zinc fingers
  • a zinc-finger-like motif, CBX5-binding domain, essential for normal mitotic progression and dissociation of CBX5 from mitotic chromosome arms, HP1-binding zinc-finger-like motif (amino acids 791850) thought to be integral for the binding of POGZ to heterochromatin protein 1 (CBX5, or HP1) for proper mitotic progression
  • a CENPB-type DNA-binding domain
  • five functional domains
  • a centromere protein (CENP) B-like DNA-binding domain,
  • a DDE domain that might regulate gene expression
  • mono polymer complex
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • having a nucleic acid binding function
  • required for the correct activation and dissociation of Aurora B kinase (AURKB) from chromosome arms during M phase
  • is involved in mitosis and the regulation of neuronal proliferation
  • essential protein that links CBX5 dissociation with Aurora B kinase activation during mitosis
  • have an important function in mitotic progression
  • heterochromatin protein 1 alpha-binding protein, that is likely a risk gene for neurodevelopmental disorders
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interact with the transcription factor SP1
  • interaction between the C terminus of PSIP1 and the DDE domain of POGZ, revealing an overlap in the binding of POGZ and HIV-1 integrase
  • bind to CBX5 through zinc-finger-like motif (interaction of POGZ with CBX5 may regulate Aurora B activation and a variety of downstream mitotic events)
  • POGZ is an essential protein that links CBX5 dissociation with AURKB activation during mitosis
  • PSIP1 interactions with transcriptional repressor CDCA7L and domesticated transposase POGZ, and the POGZ interaction is nearly identical to the interaction of PSIP1 with KMT2A
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRD37
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    likely causative of ASD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS