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FLASH GENE
Symbol DEAF1 contributors: mct - updated : 10-05-2014
HGNC name deformed epidermal autoregulatory factor 1 (Drosophila)
HGNC id 14677
Corresponding disease
MRD24 mental retardation, autosomal dominant 24
Location 11p15.5      Physical location : 644.224 - 695.740
Synonym name
  • suppressor (nuclear deformed epidermal autoregulatory factor 1, (DEAF-1) related
  • suppressin
  • suppressin variant
    • Synonym symbol(s) SPN, D11S2273E, NUDR, ZMYND5
    DNA
    TYPE functioning gene
    STRUCTURE 30.61 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 2737 - 565 - 2009 19668219
    - splicing - - - expressed in in the pancreatic lymph nodes (PLNs) of diabetic patients 2009 19668219
  • suppressed peripheral tissue antigens (PTAs) expression by inhibiting the transcriptional activity of canonical DEAF1
    • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    Nervousbrain   highly Homo sapiens
    Reproductivefemale systemovary  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two domains with homology to a transcription factor in Drosophila called DEAF1
  • a nuclear export signal (NES)with a DEAF-1/DEAF-1 protein interaction domain
  • an NES with a novel spacing of leucines (LXLX(6)LLX(5)LX(2)L) near the C-terminal MYND domain at amino acids 454-476 with MYND domain binding to peptides derived from NCOR1, NCOR2 corepressors
  • a second protein-protein interaction domain at amino acids 243-306 with the DNA-binding SAND domain and also an adjacent zinc binding motif and a monopartite nuclear localization signal (NLS)
    • HOMOLOGY
    interspecies homolog to Drosophila deformed epidermal auroregulatory factor 1 (DEAF-1)
    Homologene
    FAMILY
    CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • regulation of transcription during fetal development and differentiation of testicular cells
  • role in protein-protein interaction is required for DNA recognition
  • transcription factor that binds to TTCG motifs in DNA
  • regulates epithelial cell proliferation and side-branching in the mammary gland
  • controls the expression of genes encoding peripheral tissue antigens (PTAs) in the pancreatic lymph nodes (PLNs)
  • AIRE and DEAF1, which exert global transcriptional regulatory functions, may play important roles in self-renewal of embryonic stem cells (ESCs) and maintaining ESC in a transcriptionally hyperactive state
  • play potentially a role in maintaining peripheral tolerance by controlling the transcription of peripheral tissue antigen genes in lymph node stromal cells
  • Pellino1-interacting protein required for interferon production by Sendai virus and double-stranded RNA
  • is a novel component of the signal transduction network by which dsRNA of viral origin stimulates IFNB production
  • transcriptional binding factor and a regulator of serotonin receptor 1A
    • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    text inhibitor of cell proliferation
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA DNA-binding protein
    RNA
    small molecule
    protein
  • high affinity binding partner of the LIM-only protein LMO4 that plays important roles in mammary gland development and breast cancer
  • interaction of DEAF1 with XRCC6 and XRCC5
  • can interact with the PRKDC complex through interactions of its DNA binding domain with the C-terminal region of XRCC6 that contains the BAX binding domain, and is a potential substrate for PRKDC
  • regulates the translation of genes in lymph node stromal cells by controlling the transcription of the poorly characterized EIF4G3
  • DEAF1 transcription regulation activity is mediated through interactions with cofactors such as NCOR1 and NCOR2
  • PELI1 interacts with the transcription factor DEAF1, and this interaction is independent of the E3 ligase activity of PELI1, but weakened by the phosphorylation of PELI1
  • binds to the IFNB promoter and to IRF3 and IRF7, that it is required for the transcription of the IFNB gene and IFNB secretion
  • function as a transcriptional activator of eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRD24
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    reduced DEAF1 function, and subsequent loss of EIF4G3 transcription may affect peripheral tissue antigen (PTA) expression in lymph node stromal cells (LNSCs) and contribute to the pathology of Type 1 diabetes
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS