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FLASH GENE
Symbol ZFAT contributors: mct - updated : 06-11-2015
HGNC name zinc finger and AT hook domain containing
HGNC id 19899
Location 8q24.22      Physical location : 135.490.032 - 135.725.292
Synonym name
  • zinc finger gene in AITD susceptibility region
  • zinc finger protein 406
  • zinc finger gene in autoimmune thyroid disease
  • ZFAT zinc finger 1
  • Synonym symbol(s) AITD3, ZFAT1, ZNF406, KIAA1485, ZFAT-1, MGC126815, MGC126817
    DNA
    TYPE functioning gene
    STRUCTURE 235.25 kb     18 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 splicing 5469 94.3 846 placenta, ovary , tonsils 2009 19162026
    using 3 kb exon 9b immediately following the exon 9a,ii repeats of the ZNF domain
    16 splicing 4632 138.9 1243 - 2009 19162026
    composed of 16 exons, 8, 9a and 10, 18 repeats of the ZNF
    - splicing 939 - - only placenta 2009 19162026
  • specific antisense transcript
  • 2 exons mostly located in exon 9b and exon 9a of ZFAT
  • promoter B cell specific determining susceptibility to autoimmune thyroid disease
  • 16 splicing 4551 - 1231 - 2009 19162026
    using the first methionine in the exon 4
    17 splicing 4710 - 1231 - 2009 19162026
    using the first methionine in the exon 4
    14 - 4293 - 1145 - 2009 19162026
    15 - 4442 - 1181 - 2009 19162026
    17 - 4787 - 1231 - 2009 19162026
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node     Homo sapiens
     spleen   highly Homo sapiens
     thymus     Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    Lymphoid/ImmuneB cell Homo sapiens
    Lymphoid/Immunelymphocyte
    Lymphoid/ImmuneT cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text highly in placenta and in umbilical cord
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one AT hook
  • 18 C2H2 zinc-finger domains
  • eight uncommon bulged-out helix-containing zinc-fingers, and six of their structures (ZF4, ZF5, ZF6, ZF10, ZF11, and ZF13) were determined
  • conjugated MetalloP
    HOMOLOGY
    interspecies homolog to rattus Zfat (88.8 pc)
    homolog to murine Zfat (88.8 pc)
    Homologene
    FAMILY
  • zinc finger protein family
  • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • involved in transcriptional regulation
  • critical regulator involved in apoptosis and cell survival for immune-related cells
  • is an essential transcriptional regulator for hematopoietic differentiation in blood islands
  • involved in apoptosis, development and primitive hematopoiesis
  • is a critical regulator in peripheral T cell homeostasis and its TCR-mediated response
  • plays crucial roles as a novel cell-intrinsic factor both in peripheral T cell homeostasis and in TCR-mediated cellular response
  • roles of ZFAT in haematopoietic and angiogenesis, and possible involvement of ZFAT in haematopoietic malignancies
  • critically participates in the development of double-positive (DP) thymocytes through regulating the activities of MAPK14 and JNK
  • transcriptional regulator, involved in autoimmune thyroid disease, apoptosis, and immune-related cell survival
  • regulates the transcription of target genes by binding directly to the transcription start site (TSS) proximal region, and ZFAT-target genes play important roles in T-cell homeostasis
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • is required for peripheral T-cell homeostasis through IL7R expression by controlling the FOXO1 protein
  • ZFAT-regulated BRPF1 expression was likely important for T-cell survival
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in T- and B-cells in the lymphoid tissues
    constitutional       loss of function
    in peripheral T-cells results in a reduction in the number of T-cells with decreased expression of the IL7R that is critical for T-cell homeostasis
    Susceptibility to autoimmune thyroid disease (AITD)
    Variant & Polymorphism SNP exon 9b-SNP10 increases the risk of autoimmune thyroid disease
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Zfat-deficiency in mice leads to a remarkable reduction in the number of the peripheral T cells
  • Zfat(-/-) mice are embryonic-lethal, with impaired differentiation of hematopoietic progenitor cells in blood islands, where Zfat is exactly expressed