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FLASH GENE
Symbol SOX1 contributors: mct - updated : 01-12-2021
HGNC name SRY (sex determining region Y)-box 1
HGNC id 11189
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an high mobility group (HMG) domain
  • and a transactivation domain in the carboxyl terminus (transcription activation), required for the interactions
    • HOMOLOGY
    interspecies homolog to murine Sox1
    homolog to C.elegans T28h11.1
    Homologene
    FAMILY SRY-related HMG box family of transcription factors
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • modulator of LINE retroposons promoter activity
  • involved in neural and lens development
  • works through multiple independent pathways to promote neuronal cell fate determination and differentiation
  • functional roles of neural patterning factors, NOTCH signalling and SOX1 during gliogenesis
  • SOX1 plays a key role in the suppression of neurogenic cell divisions
  • transcription factor involved in the regulation of embryonic development and cell fate determination
  • may function as a tumor suppressor by interfering with Wnt/CTNNB1 signaling in the development of hepatocellular carcinoma
  • SOX1 marks an activated neural stem/progenitor cell in the hippocampus
  • can function as a tumor suppressor partly by interfering with Wnt/CTNNB1signaling in cervical cancer
  • possible role for SOX1-OT in regulating SOX1 expression, as previously observed for SOX2
  • role of SOX1 in early neural regionalization
  • SOX1 is a key regulator of neural stem cell development, acting to keep neural stem cells (NSCs) in an undifferentiated state
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    text neuronal development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • binds directly to the HES1 promoter and suppresses HES1 transcription, thus attenuating Notch signaling
  • also binds to beta-catenin and suppresses beta-catenin-mediated TCF/LEF signaling, thus potentially attenuating the wnt signaling pathway
  • SOX1 regulates the size of the cortical neural progenitor (NP) pool via suppression of PROX1-mediated neurogenic cell divisions
  • SOX1 binds to the distal region of GBX2 to activate its expression
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    epigenetically silenced in the majority of NSCLC (non-small cell lung cancer)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • detection of PAX1/SOX1/ZNF582 methylation status may serve as a promising biomarker for ESCC screening and diagnosis of Esophageal squamous cell carcinoma (ESCC)
    • Therapy target
    ANIMAL & CELL MODELS