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FLASH GENE
Symbol XIST contributors: mct - updated : 07-05-2016
HGNC name X (inactive)-specific transcript
HGNC id 12810
Location Xq13.2      Physical location : 73.040.494 - 73.072.588
Synonym name DNA segment, single copy, probe 8A11
Synonym symbol(s) DXS1089, DXS399E, XCE, XIC, SXI1, swd66
DNA
TYPE small rna
SPECIAL FEATURE overlapping, gene in gene
text
  • 3' end overlapped by 3' end of TSIX
  • expressed only on the inactivated X, not the active X
    • STRUCTURE 32.00 kb     6 Exon(s)
    regulatory sequence Promoter
    Binding site
    text structure
  • histone 3 lys 9 methylation hot spot upstream the promoter
  • one homologous CTCF-binding sequence with the matching dG-contacts, which include the -43 position within the DNase I footprint of CTCF
    • MAPPING cloned Y linked N status confirmed
    Map cen - DXS453 - DXS131 - RPS4X - PHKA1 - DXS1164 - DXS227 - DXS1677 - [NAP1L2 - CDX4 - DXS1005E - XIST - RPSAP14 ] - DXS1166 - SLC16A2 - DXS441 - DXS171 - DXS347 - DXS325 - DXS356 - DXS56 - ATP7A (MNK )- PGK1 PGK1 - qter
    Authors Brown (91), Lafrenière (93), Horn (95), Consensus (95), Rougeulle(96)
    Text [XIC region]
    regionally located in the region of the X inactivation center
    RNA
    TRANSCRIPTS type untranslated
    text untranslated RNA
    EXPRESSION
    Rna function XIST RNA is diffusible and is trapped by the X chromosome via YY1
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    text non chromatin nuclear structure
    basic FUNCTION
  • associating with inactive X and involved in chromatin packaging
  • involved in the overexpression of H2A1M in inactivated X
  • implicated in recognizing the number of X chromosomes and initiating a silencing signal on cis
  • delayed reprogramming of XIST/reactivation of inactive X chromosome after cell fusion was accelerated by DNA methylation and histone deacetylation of XIST, which follow upregulation of DNMT3A and TSIX
  • reprogramming of X-chromosome inactivation during the acquisition of pluripotency is accompanied by the repression of XIST, the trigger of X-inactivation, and the upregulation of its antisense counterpart TSIX (
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component possible constituent of non chromatin nuclear structure
    INTERACTION
    DNA
    RNA binding to XIST RNA with the hot spot of H3lys9
    small molecule
    protein
  • YY1 interacts with XIST RNA through Repeat C
  • SPEN is required for gene repression by XIST
  • CIZ1 has likely an essential role in anchoring XIST to the nuclear matrix in specific somatic lineages
  • SPEN acts as a molecular integrator for the initiation of X-chromosome inactivation (XCI), bridging XIST RNA with the transcription machinery-as well as with nucleosome remodellers and histone deacetylases-at active enhancers and promoters
    • cell & other
    REGULATION
    inhibited by trichostatin A, which normally activates gene expression, but results in downregulation of XIST
    repressed by TSIX, its transcription is negatively regulated by its antisense partner TSIX, whose disruption results in nonrandom X-chromosome inactivation in females
    Other replication regulated (replicated before its expressed allele)
    methylation is the initial event in the spread of the inactivation signal
    maintenance of XIST methylation is controlled differently than global genomic methylation and in the absence of both DNMT1 and DNMT3B
    regulated by a balance of multiple XIST activators and repressors, and levels of POU5F1 and TSIX are crucial toward achieving this balance
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    promoter mutated in skewed X inactivation and the choice of X chromosome inactivation reflects stabilization of a higher order chromatin conformation impinging on the CTCF-XIST promoter complex
    tumoral     --other  
    aberrantly demethylated in testicular germ cell tumor and in male-derived plasma
    tumoral     --over  
    by demethylation in aggressive prostate cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS