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FLASH GENE
Symbol ZMIZ1 contributors: mct - updated : 19-03-2019
HGNC name zinc finger, MIZ-type containing 1
HGNC id 16493
Corresponding disease
IDMFD intellectual disability with microcephaly, and facial dysmorphism
Location 10q22.3      Physical location : 80.828.791 - 81.076.285
Synonym name
  • retinoic acid induced 17
  • PIAS-like protein Zimp10
  • zinc finger-containing, Miz1, PIAS-like protein on chromosome 10
    • Synonym symbol(s) FLJ13541, KIAA1224, RAI17, Zimp10, MIZ, FLJ13541, hZIMP10
    DNA
    TYPE functioning gene
    STRUCTURE 247.53 kb     22 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 - 7555 - 1067 - 2008 18007576
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinethyroid   highly
    Hearing/Equilibriumearinnercochlea highly
    Nervousbrain   highly Homo sapiens
    Reproductivefemale systembreastmammary gland highly
     male systemtestis    Homo sapiensFetal
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a zinc-binding SP-RING/Miz domain, which confers SUMO-conjugating activity
  • a Miz domain
  • a strong intrinsic transactivation domain within its C-terminus
    • HOMOLOGY
    Homologene
    FAMILY PIAS (protein inhibitor of activated signal transducer and activator of transcription) family
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text
  • is found in somatic cells, outside the testis cords
    • basic FUNCTION
  • acting as other PIAS proteins to regulate SMAD3-mediated transcription
  • playing a role in regulating the TGF-beta/SMAD signaling pathway
  • may play an important role in both chromatin assembly and maintenance of chromatin
  • is a transcriptional coregulator and may be involved in the modification of chromatin through interactions with the SWI/SNF chromatin-remodeling complexes
  • crucial role for ZMIZ1 in vasculogenesis
  • novel regulatory role of ZMIZ1 in modulating the polyQ tract length of AR in prostate cancer cells
  • ZMIZ1, ZMIZ2 are androgen receptor co-activators
  • role for ZMIZ1 in the maintenance of glucose homeostasis
  • stage-specific roles of ZMIZ1, in NOTCH1-dependent steps of early T-cell development
  • important role for ZMIZ1 in early stages of the postmitotic positioning of pyramidal neurons in the developing cerebral cortex
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    zinc Zn2+
    protein
  • interacting with TP53 (binds to TP53 on the p21 promoter, and regulates its function)
  • is a transcriptional coactivator of the protein inhibitor of activated STAT (PIAS)-like family
  • ZMIZ1 functionally interacts with NOTCH1 to promote C-MYC transcription and activity
  • similar to NOTCH1, ZMIZ1 was important for T cell development and controlled the expression of certain NOTCH target genes, such as MYC
  • ZMIZ1 is a context-specific cofactor for NOTCH1 during NOTCH/MYC-dependent thymocyte proliferation, whether normal or malignant
  • vitamin D regulation of ZMIZ1 and IRF8 in dendritic cells (DCs) and monocytes contribute to latitude-dependent autoimmune disease risk
  • ZMIZ1 is also involved in the transcriptional activation of a subset of NOTCH1 target genes, including MYC
    • cell & other
    REGULATION
    induced by retinoic acid
    ASSOCIATED DISORDERS
    corresponding disease(s) IDMFD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in blood in people with multiple sclerosis
    tumoral fusion      
    of ZMIZ1 to ABL1 in a B-cell acute lymphoblastic leukaemia with a t(9;10)(q34;q22.3) translocation
    Susceptibility
  • to primary dysmenorrhoea
  • to multiple sclerosis
    • Variant & Polymorphism SNP
  • rs76518691 in the gene ZMIZ1 confer risk for primary dysmenorrhoea
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS