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

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; AllianceGenome:HGNC:12810
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
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Genomic context

Location:: Xq13.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (73820651..73852753, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (72253967..72286069, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (73040486..73072588, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Discovering therapeutic possibilities for polycystic ovary syndrome by targeting XIST and its associated ceRNA network through the analysis of transcriptome data.
Title: Discovering therapeutic possibilities for polycystic ovary syndrome by targeting XIST and its associated ceRNA network through the analysis of transcriptome data.
Long noncoding RNA XIST inhibition promotes Leydig cell apoptosis by acting as a competing endogenous RNA for microRNA-145a-5p that targets SIRT1 in late-onset hypogonadism.
Title: Long noncoding RNA XIST inhibition promotes Leydig cell apoptosis by acting as a competing endogenous RNA for microRNA-145a-5p that targets SIRT1 in late-onset hypogonadism.
Dissection of protein and RNA regions required for SPEN binding to XIST A-repeat RNA.
Title: Dissection of protein and RNA regions required for SPEN binding to XIST A-repeat RNA.
Exploring the XIST axis as oxidative stress-related signatures in systemic lupus erythematosus.
Title: Exploring the XIST axis as oxidative stress-related signatures in systemic lupus erythematosus.
METTL14-mediated lncRNA XIST silencing alleviates GDM progression by facilitating trophoblast cell proliferation and migration via the miR-497-5p/FOXO1 axis.
Title: METTL14-mediated lncRNA XIST silencing alleviates GDM progression by facilitating trophoblast cell proliferation and migration via the miR-497-5p/FOXO1 axis.
Long noncoding RNA X-inactive specific transcript (lncRNA XIST) inhibits hepatic insulin resistance by competitively binding microRNA-182-5p.
Title: Long noncoding RNA X-inactive specific transcript (lncRNA XIST) inhibits hepatic insulin resistance by competitively binding microRNA-182-5p.
XIST directly regulates X-linked and autosomal genes in naive human pluripotent cells.
Title: XIST directly regulates X-linked and autosomal genes in naive human pluripotent cells.
Gender dimorphism in hepatocarcinogenesis-DNA methylation modification regulated X-chromosome inactivation escape molecule XIST.
Title: Gender dimorphism in hepatocarcinogenesis-DNA methylation modification regulated X-chromosome inactivation escape molecule XIST.
Long non-coding RNA X-Inactive Specific Transcript (XIST) interacting with USF2 promotes osteogenic differentiation of periodontal ligament stem cells through regulation of WDR72 transcription.
Title: Long non-coding RNA X-Inactive Specific Transcript (XIST) interacting with USF2 promotes osteogenic differentiation of periodontal ligament stem cells through regulation of WDR72 transcription.
The XIST lncRNA is a sex-specific reservoir of TLR7 ligands in SLE.
Title: The XIST lncRNA is a sex-specific reservoir of TLR7 ligands in SLE.

Submit: New GeneRIF Correction See all GeneRIFs (230)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
X inactivation, familial skewed, 1 MedGen: C1848138 OMIM: 300087 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-04-22) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-04-22) ClinGen Genome Curation PagePubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS9733 (e-PCR)
- UniSTS:29189

GDB:454788 (e-PCR)
- UniSTS:157448

G20873 (e-PCR)
- UniSTS:41510

A006J28 (e-PCR)
- UniSTS:41511

GDB:265297 (e-PCR)
- UniSTS:99368

RH18196 (e-PCR)
- UniSTS:41301

G20784 (e-PCR)
- UniSTS:67677

A006G16 (e-PCR)
- UniSTS:67678

PMC24149P11 (e-PCR)
- UniSTS:272222

PMC24149P12 (e-PCR)
- UniSTS:272223

PMC24149P13 (e-PCR)
- UniSTS:272224

PMC24149P14 (e-PCR)
- UniSTS:272225

PMC24149P15 (e-PCR)
- UniSTS:272226

PMC24149P16 (e-PCR)
- UniSTS:272227

PMC24149P17 (e-PCR)
- UniSTS:272228

1206 (e-PCR)
- UniSTS:39524

RH47941 (e-PCR)
- UniSTS:12915

RH16556 (e-PCR)
- UniSTS:65177

DXS9733 (e-PCR)
- UniSTS:26309

GDB:190003 (e-PCR)
- UniSTS:155606

RH103941 (e-PCR)
- UniSTS:98266

Other Names

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chromatin-protein adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables miRNA inhibitor activity via base-pairing	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in constitutive heterochromatin formation	TAS Traceable Author Statement more info	PubMed
involved_in lncRNA-mediated post-transcriptional gene silencing	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of miRNA catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in random inactivation of X chromosome	IEP Inferred from Expression Pattern more info	PubMed
involved_in random inactivation of X chromosome	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in X chromosome	TAS Traceable Author Statement more info	PubMed
part_of dosage compensation complex	TAS Traceable Author Statement more info	PubMed
part_of ribonucleoprotein complex	IDA Inferred from Direct Assay more info	PubMed

NCBI Reference Sequences (RefSeq)

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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.