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FLASH GENE
Symbol STAG1 contributors: mct/ - updated : 13-06-2018
HGNC name stromal antigen 1
HGNC id 11354
Corresponding disease
MRD47 mental retardation, autosomal dominant 47
Location 3q22.3      Physical location : 136.055.998 - 136.471.245
Synonym name
  • nuclear protein stromal antigen 1
  • SCC3 homolog 1
  • cohesin subunit SA-1
  • Synonym symbol(s) EVI99, SA1, DKFZp781D1416, MRD47, SCC3A
    DNA
    TYPE functioning gene
    STRUCTURE 415.25 kb     34 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
    34 - 5166 - 1258 - 2017 28430577
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrinepancreas   moderately
    Nervousbrain   moderately
    Reproductivemale systemprostate  moderately
    Respiratorylung   moderately
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    cell cycle     cell cycle, interphase
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a transmembrane domain
  • a binding motifs for SH3 and WW
  • an AT-hook motif in STAG1 plays dual roles in modulating non-specific DNA binding and subdiffusive dynamics over telomeric regions
  • HOMOLOGY
    interspecies homolog to murine Stag1
    Homologene
    FAMILY
  • SCC3 family
  • CATEGORY antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus,nucleoplasm,nuclear bodies
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • transcriptional target for Tp53, mediating Tp53-dependent apoptosis
  • role for STAG/Scc3 in transcriptional regulation
  • cohesin(STAG1) and cohesin(STAG2) are differentially required for telomere and centromere cohesion, respectively
  • involvement in sister chromatid cohesion
  • STAG1 and STAG2 participate in the DNA damage response, coordinately protecting genome integrity in human cells through unique ways
  • CTCF and STAG1 have multiple roles in the regulation of gene expression during erythropoiesis including transcriptional regulation at gene promoters and maintenance of chromatin architecture 7)
  • STAG1 and STAG2 share high sequence identity, encode mutually exclusive cohesin subunits and retain partially overlapping functions
  • cohesin ring is a protein complex composed of four core subunits: SMC1A, SMC3, RAD21 and STAG1/STAG2 and is involved in chromosome segregation, DNA repair, chromatin organization and transcription regulation
  • STAG1 is required for telomere cohesion and STAG2 for centromere cohesion
  • STAG1 preferentially contributes to the stabilization of topologically associating domain boundaries together with CTCF, whereas STAG2 promotes cell-type-specific contacts between enhancers and promoters independently of CTCF
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion
  • component of SMC1A, SMC3, RAD21 and STAG1, cohesin complex that is central to the mechanism of sister chromatid cohesion
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts directly with RAD21 in cohesin complex
  • functional interplay between STAG1 and TERF1 in telomeric DNA binding and DNA-DNA pairing
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRD47
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    cells deficient in STAG1 are unable to establish or maintain cohesion between sister telomeres after DNA replication in S phase
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    STAG1 is a promising therapeutic target in cancers with inactivating alterations of STAG2
    ANIMAL & CELL MODELS