Version: 8.0.0Date: Tue Jan 28 2025
Gene
PPARGC1A
- Species
- Homo sapiens
- Symbol
- PPARGC1A
- Name
- PPARG coactivator 1 alpha
- Synonyms
- L-PGC-1alpha
- LEM6
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including nuclear receptor binding activity; nuclear receptor coactivator activity; and ubiquitin protein ligase binding activity. Involved in gluconeogenesis; mitochondrion organization; and regulation of gene expression. Acts upstream of or within regulation of DNA-templated transcription. Located in cytosol and nucleoplasm. Is active in nucleus. Implicated in several diseases, including macular degeneration; malignant fibrous histiocytoma; metabolic dysfunction-associated steatotic liver disease; neurodegenerative disease (multiple); and type 2 diabetes mellitus. Biomarker of several diseases, including chronic obstructive pulmonary disease; kidney cancer; myocardial infarction; neurodegenerative disease (multiple); and type 2 diabetes mellitus.
- RGD Description
- The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR15528
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
- Chr4:23755041...24472905 - (717.86 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.