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XIST X inactive specific transcript [ Homo sapiens (human) ]

Gene ID: 7503, updated on 6-Aug-2019

Summary

Official Symbol
XISTprovided by HGNC
Official Full Name
X inactive specific transcriptprovided by HGNC
Primary source
HGNC:HGNC:12810
See related
Ensembl:ENSG00000229807 MIM:314670
Gene type
ncRNA
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SXI1; swd66; DXS1089; DXS399E; LINC00001; NCRNA00001
Summary
X inactivation is an early developmental process in mammalian females that transcriptionally silences one of the pair of X chromosomes, thus providing dosage equivalence between males and females. The process is regulated by several factors, including a region of chromosome X called the X inactivation center (XIC). The XIC comprises several non-coding and protein-coding genes, and this gene was the first non-coding gene identified within the XIC. This gene is expressed exclusively from the XIC of the inactive X chromosome, and is essential for the initiation and spread of X-inactivation. The transcript is a spliced RNA. Alternatively spliced transcript variants have been identified, but their full length sequences have not been determined. Mutations in the XIST promoter cause familial skewed X inactivation. [provided by RefSeq, Apr 2012]
Expression
Broad expression in thyroid (RPKM 59.4), ovary (RPKM 51.4) and 20 other tissues See more

Genomic context

See XIST in Genome Data Viewer
Location:
Xq13.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (73820651..73852753, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (73040486..73072588, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase 4 pseudogene 1 Neighboring gene cysteine rich hydrophobic domain 1 Neighboring gene selenophosphate synthetase 1 pseudogene 4 Neighboring gene TSIX transcript, XIST antisense RNA Neighboring gene FXYD domain containing ion transport regulator 6 pseudogene 3 Neighboring gene JPX transcript, XIST activator Neighboring gene ribosomal protein SA pseudogene 14 Neighboring gene FTX transcript, XIST regulator

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
X inactivation, familial skewed, 1
MedGen: C1848138 OMIM: 300087 GeneReviews: Not available
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Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-09-20)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-09-20)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Other Names

  • X inactive specific transcript (non-protein coding)
  • long intergenic non-protein coding RNA 1

Clone Names

  • DKFZp779P0129

Gene Ontology Provided by GOA

Process Evidence Code Pubs
dosage compensation by inactivation of X chromosome IEA
Inferred from Electronic Annotation
more info
 
gene silencing IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016172.1 RefSeqGene

    Range
    5001..37103
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. NR_001564.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AI640908, AL353804, BX648323
    Related
    ENST00000429829.6

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    73820651..73852753 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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