Version: 8.0.0Date: Tue Jan 28 2025
Gene
ATF6
- Species
- Homo sapiens
- Symbol
- ATF6
- Name
- activating transcription factor 6
- Synonyms
- ACHM7
- activating transcription factor 6 alpha
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; identical protein binding activity; and protein heterodimerization activity. Involved in several processes, including positive regulation of ATF6-mediated unfolded protein response; positive regulation of transcription by RNA polymerase II; and visual perception. Acts upstream of or within positive regulation of autophagy. Located in Golgi apparatus; endoplasmic reticulum membrane; and nucleus. Part of RNA polymerase II transcription regulator complex. Implicated in achromatopsia 7.
- RGD Description
- This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this protein is unusual in that it is synthesized as a transmembrane protein that is embedded in the ER. It functions as an ER stress sensor/transducer, and following ER stress-induced proteolysis, it functions as a nuclear transcription factor via a cis-acting ER stress response element (ERSE) that is present in the promoters of genes encoding ER chaperones. This protein has been identified as a survival factor for quiescent but not proliferative squamous carcinoma cells. There have been conflicting reports about the association of polymorphisms in this gene with diabetes in different populations, but another polymorphism has been associated with increased plasma cholesterol levels. This gene is also thought to be a potential therapeutic target for cystic fibrosis. [provided by RefSeq, Aug 2011]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR46164
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr1:161766298...161977574 + (211.28 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.