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FLASH GENE
Symbol STAT1 contributors: mct/pgu - updated : 27-10-2009
HGNC name signal transducer and activator of transcription 1, 91kDa
HGNC id 11362
Corresponding disease
STAT1D STAT1 deficiency
Location 2q32.2      Physical location : 191.833.761 - 191.878.976
Synonym name
  • IFN-stimulated gene factor 3
  • transcription factor ISGF-3 components p91/p84
    • Synonym symbol(s) ISGF3, STAT91
    DNA
    TYPE functioning gene
    STRUCTURE 45.21 kb     25 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   enhancer
    text structure repressor region and IFN I and II inducible element within the STAT1 enhancer
    MAPPING cloned Y linked N status confirmed
    Map cen - D2S324 - STAT1 - D2S117 - D2S348 - D2S317 - qter
    Physical map
    TFPI 2q31-q32.1 tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) LOC344328 2q32.2 similar to heat shock 70kD protein binding protein; progesterone receptor-associated p48 protein; putative tumor suppressor ST13; Hsp70-interacting protein CED-6 2q32.3-q33 similar to heat shock 70kD protein binding protein; progesterone receptor-associated p48 protein; putative tumor suppressor ST13; Hsp70-interacting protein DIRC1 2q33 disrupted in renal carcinoma 1 COL3A1 2q32.2 collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) COL5A2 2q24.3-q31 collagen, type V, alpha 2 LOC339781 2q32.3 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) FLJ12519 2q32.3 hypothetical protein FLJ12519 SLC40A1 2q32 solute carrier family 40 (iron-regulated transporter), member 1 NS3TP1 2p24.3-q21.3 HCV NS3-transactivated protein 1 FLJ25415 2q32.3 hypothetical protein FLJ25415 OSGEPL1 2q32 O-sialoglycoprotein endopeptidase-like 1 LOC51240 2q32.3 hypothetical protein LOC51240 PMS1 2q31.1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) LOC285011 2q32.3 similar to HNRPC protein GDF8 2q32.2 growth differentiation factor 8 MGC13057 2q32.3 hypothetical protein MGC13057 HIBCH 2q32.3 3-hydroxyisobutyryl-Coenzyme A hydrolase INPP1 2q32 inositol polyphosphate-1-phosphatase FLJ20160 2q32.3 FLJ20160 protein LOC391468 2 similar to Hypothetical protein KIAA0286 (HA6800) NAB1 2q32.3-q33 NGFI-A binding protein 1 (EGR1 binding protein 1) GLS 2q32-q34 glutaminase STAT1 2q32.2-q32.3 signal transducer and activator of transcription 1, 91kDa STAT4 2q32.2-q32.3 signal transducer and activator of transcription 4 MYO1B 2q12-q34 myosin IB FLJ22833 2q32.3 hypothetical protein FLJ22833 SDPR 2q32-q33 serum deprivation response (phosphatidylserine binding protein) HSP40 2q32.3 HSP40 pseudogene TMEFF2 2q32.3-q33 transmembrane protein with EGF-like and two follistatin-like domains 2 LOC391469 2 similar to hypothetical protein FLJ10634 LOC389067 2 LOC389067 LOC343981 2q33.1 similar to Glutamine synthetase (Glutamate--ammonia ligase)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 - 4326 91 750 - 1992 1502203
  • isoform alpha
    • 23 polyA site 2798 84 712 - 1992 1502203
  • isoform beta
    		•
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen   highly
    Reproductivefemale systemuterus  highly
    Respiratoryrespiratory tracttrachea  highly
    Urinarybladder   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminus conserved domain
  • the coiled coil domain
  • the DNA binding domain
  • a linker region
  • a SRC homology domain 2 (SH2)
  • a critical site of tyrosine phosphorylation
  • the carboxy-terminal transactivation domain
    • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to rattus Stat1 (93.7pc)
    homolog to murine Stat1 (93.6pc)
    Homologene
    FAMILY
  • STAT protein family of transcription factors
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus,chromatin/chromosome
    text translocated to cholesterol-enriched microdomains (lipid rafts) after tyrosylation
    basic FUNCTION
  • activated during monocyte to macrophage differentiation as an early transcription factor initially activated by adherence and then able to modulate the expression of functional genes such as ICAM1 and FCGR1
  • playing a dual role with JAK1 and STAT3 in myogenic differentiation, participating in myoblast proliferation and actively repressing differentiation
  • in response to type II IFN, STAT1 is phosphorylated and forms homodimer that migrates to the nucleus and drives the expression of target genes, inducing a cellular antiviral state
  • functioning as a negative regulator of HIF-1-dependent transcription in tumor cells
  • is involved in maintaining the latency III viral program observed in transformed B cells and regulating immunorecognition by EBV-specific T cells
  • master regulator of ras-mediated transformation
  • unphosphorylated STAT1 prolongs the expression of interferon-induced immune regulatory genes
  • is associated with an apoptosis pathway and required to promote the tumor killing effect of STAT3 inhibtion in head and neck squamous cell carcinoma
  • may be a novel risk genes for the differentiation of peak bone mass at the monocyte stage
  • early cellular responses to human interferons are critically dependent on the amount of STAT1 and are essential for the appropriate control of mycobacterial and viral infections
  • required for the cell death induced by IFNA1
  • STAT6-STAT1 axis regulates osteoclast stimulatory transmembrane protein and dendritic cell-specific transmembrane protein expression and governs fusogenic mechanisms in foreign body giant cells
    • CELLULAR PROCESS nucleotide, transcription, regulation
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling signal transduction
    JAK-STAT1 pathway activated by IFNG enhancing the recruitment of coactivators
    a component
  • ISGF3 complex with STAT1 (STAT1b) and STAT2 (113kD)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • recruiting a minichromosome maintenance complex MCM5/MCM3 through direct interaction with MCM5 in the process of IFNG-induced gene activation
  • KPNA2 for translocation into the nucleus
  • IFNA1 (protection against IFNA1-mediated injury in the CNS )
  • associating with SPI1 and coactivating Fcgamma receptor 1 promoter
  • dimerizing with phosphorylated STAT2 and associating with ISGF3G in ISGF3 transcription factor complex
  • interacting with NMI
  • TYK2 controls STAT1 and STAT6 activation in response to IL13 stimulation
    • cell & other
    REGULATION
    activated by cytokines IFNA, IFNG stimulating tyrosine phosphorylation, dimerization, transport to the nucleus and regulating gene expression
    IGFBP3 in chondrogenesis
    EGF, PDGF and IL6
    inhibited by PIAS1 and prevented of binding to DNA
    Other covalently modified by SUMO-1 in cytokine signaling
    regulated by a phosphorylation-acetylation switch
    ASSOCIATED DISORDERS
    corresponding disease(s) STAT1D
    related resource STAT1base: Mutation registry for STAT1 deficiency
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    impairing the response to interferon alpha/beta increases the susceptibility to lethal viral disease
    Susceptibility susceptibility to lethal viral disease
    Variant & Polymorphism
    Candidate gene
  • might play an important role in sarcoidosis
  • significant association of STAT1 with bone mineral density, important in circulating monocytes in the etiology of osteoporosis
    • Marker
    Therapy target
    ANIMAL & CELL MODELS