XIST - X inactive specific transcript Gene
Also Known as SXI1; swd66; DXS1089; DXS399E; LINC00001; NCRNA00001
Species: Homo sapiens
About XIST
This gene has 30 transcripts (splice variants) and is associated with 1 phenotype. Broad expression in thyroid (RPKM 59.4), ovary (RPKM 51.4) and 20 other tissues.
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]
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables chromatin-protein adaptor activity |
IDA
IDA: Inferred from direct assay
|
25843628 | GOA |
| enables miRNA inhibitor activity via base-pairing |
IDA
IDA: Inferred from direct assay
|
29053187 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in lncRNA-mediated post-transcriptional gene silencing |
IDA
IDA: Inferred from direct assay
|
29053187 | GOA |
| involved in positive regulation of miRNA catabolic process |
IDA
IDA: Inferred from direct assay
|
29053187 | GOA |
| involved in random inactivation of X chromosome |
IDA
IDA: Inferred from direct assay
|
25843628 | GOA |
| involved in random inactivation of X chromosome |
IEP
IEP: Inferred from expression pattern
|
9335338 | GOA |
| involved in regulatory ncRNA-mediated heterochromatin formation |
IMP
IMP: Inferred from mutant phenotype
|
25843628 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of ribonucleoprotein complex |
IDA
IDA: Inferred from direct assay
|
33268787 | GOA |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| X Inactivation, Familial Skewed, 1 |
|
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| Collecting Duct Carcinoma |
|
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| Hypogonadotropic Hypogonadism |
|
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| Hematologic Cancer |
|
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| Cervical Squamous Cell Carcinoma |
|
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| Microinvasive Gastric Cancer |
|
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| Testicular Germ Cell Cancer |
|
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| High Grade Glioma |
|
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| Nasopharyngeal Carcinoma |
|
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| Leukemia, Acute Lymphoblastic |
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| Osteogenic Sarcoma |
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| Bladder Cancer |
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| Glioblastoma |
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| Melanoma |
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| Esophagus Squamous Cell Carcinoma |
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| Pancreatic Cancer |
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| Ovarian Cancer |
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| Gastric Cancer |
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| Prostate Cancer |
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| Hepatocellular Carcinoma |
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| Lung Cancer |
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| Colorectal Cancer |
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| Breast Cancer |
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| Testicular Cancer |
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| Intellectual Developmental Disorder, Autosomal Dominant 46 |
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| Retinitis Pigmentosa 11 |
|
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| Beckwith-Wiedemann Syndrome |
|
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| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | XIST | RGD | RGD:6492187 |
| Mus musculus | XIST | MGD | MGI:98974 |