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FLASH GENE
Symbol PATZ1 contributors: mct - updated : 17-06-2016
HGNC name POZ (BTB) and AT hook containing zinc finger 1
HGNC id 13071
Location 22q12.2      Physical location : 31.721.790 - 31.742.249
Synonym name
  • protein kinase A RI subunit alpha-associated protein
  • MAZ related factor
  • zinc finger protein 278
  • zinc finger and BTB domain-containing protein 19
  • zinc finger sarcoma gene protein
  • BTB-POZ domain zinc finger transcription factor
  • Synonym symbol(s) DJ400N23, MAZR, PATZ, RIAZ, ZBTB19, ZSG, ZNF278
    DNA
    TYPE functioning gene
    STRUCTURE 20.46 kb     5 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 3812 77.7 687 - 2012 22493480
  • full length
  • long form C
  • 4 - 3674 72.4 641 - 2012 22493480
  • lacking exon 4
  • long form A
  • 5 - 3747 60.7 537 - 2012 22493480
  • frameshift
  • long form B
  • 3 - 3021 60.7 537 - 2012 22493480
  • alternative exon and exon 3,4,5 lacking
  • short isoform
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestine   highly
    Endocrineparathyroid   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousglia
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal BTB (broad complex, tamtrack and bric brac)/POZ domain A-T-hook DNA binding domain
  • seven zinc finger domains
  • one or two AT-hooks in the central region
  • four to six C2H2 zinc finger motifs at the C terminus
  • conjugated MetalloP
    HOMOLOGY
    Homologene
    FAMILY
  • krueppel C2H2-type zinc-finger protein family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • molecular transcriptional repressor
  • playing important roles in the normal phenotypic expression of mast cells in association with MITF
  • transactivates the cMyc promoter (Yang 2010)
  • is part of the transcription factor network that regulates the CD8 lineage differentiation of double-positive thymocytes
  • may have an important role as a transcriptional repressor in chromatin remodeling and transcription regulation
  • PATZ1 may have an important role in the regulation of EC senescence through an ROS-mediated TP53-dependent pathway and contribute to vascular diseases associated with aging
  • POZ/AT-hook/Kruppel zinc finger (PATZ) transcription factor
  • is able to bind the BCL6 regulatory region, where BCL6 itself acts as a negative regulator, and to contribute to negatively modulate its activity
  • PATZ1 acts as a tumor suppressor in lymphomagenesis by inhibiting BCL6 expression
  • haploinsufficient tumor suppressor role for PATZ1 that would act in lymphomagenesis by down-regulating BCL6 expression
  • PATZ1 is important for Embryonic stem cells (ESCs) pluripotency
  • dosage of PATZ1 modulates reprogramming process via significantly influencing cell senescence, proliferation and chromatin structure
  • regulates several genes involved in cellular adhesion and morphogenesis
  • important transcriptional regulatory factor that regulates divergent pathways depending on the cellular context
  • endothelial PATZ1 potently inhibits endothelial function and angiogenesis via inhibition of FABP4 expression, and abnormal induction of endothelial PATZ1 may contribute to multiple aspects of vascular dysfunction in diabetes
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • PATZ1 and BCL6 form a complex in mammalian cells, and the POZ domain of PATZ1 is necessary for such interaction
  • INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • long C form binding actin RNF4, mediator of androgen receptor activity
  • partner of MITF (the zinc-finger domain of MAZR and the Zip domain of MITF were essential for the interaction)
  • interacting with PRKAR1A, resulting in sequestration in cytoplasm with a cAMP inducible nuclear translocation (Yang 2010)
  • PATZ1 interacts with BCL6 and negatively modulates its expression
  • PATZ1, previously known for its transcriptional suppressor functions in T lymphocytes, is a crucial regulator of TP53
  • acted as a potent transcriptional corepressor of fatty acid-binding protein 4 (FABP4), an essential convergence point for angiogenic and metabolic signaling pathways in endothelial cells (ECs)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    fused to EWS by a submicroscopic inversion of 22q in a small round cell sarcoma showing a translocation (t(1;22)(p36.1;q12)
    tumoral        
    aberrantly expressed in cancer (Yang 2010)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Patz1-null mouse embryonic fibroblasts showed a significant increase in Bcl6 expression, which confirms the negative regulatory role of Patz1 on it