Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SOX1 contributors: mct - updated : 01-12-2021
HGNC name SRY (sex determining region Y)-box 1
HGNC id 11189
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
1 - 4558 - 391 - 2020 33376722
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrainhindbraincerebellum   Homo sapiensAdult
 brainhindbraincerebellum   Homo sapiensFetal
Respiratorylung    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral  specific Homo sapiensAdult
cells
SystemCellPubmedSpeciesStageRna symbol
NervousPurkinje cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text moderately in brain
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