PPARGC1A

Gene Information
 
Gene Symbol
PPARGC1A
 
Aliases
LEM6, PGC-1(alpha), PGC-1alpha, PGC-1v, PGC1, PGC1A, PPARGC1
 
Entrez Gene ID
 
Gene Name
PPARG coactivator 1 alpha
 
Chromosomal Location
4p15.2
 
HGNC ID
 
Summary
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]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

SNPs

SNP Id
Upstream Sequence
SNP
Downstream Sequence Functional Significance References
G482S 19681917

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0001659 Biological process Temperature homeostasis TAS 1258810
GO:0001678 Biological process Cellular glucose homeostasis NAS 11854298
GO:0006094 Biological process Gluconeogenesis NAS 11854298
GO:0006355 Biological process Regulation of transcription, DNA-templated IDA 23836911
GO:0006367 Biological process Transcription initiation from RNA polymerase II promoter TAS 14636573
Protein Information
 
Protein Name
Peroxisome proliferator-activated receptor gamma coactivator 1-alpha, L-PGC-1alpha, PGC-1-alpha, PPAR gamma coactivator variant form, PPARGC-1-alpha, PPARgamma coactivator 1alpha, ligand effect modulator-6, peroxisome proliferator-activated receptor gamma coactivator 1 alpha transcript variant B4-3ext, peroxisome proliferator-activated receptor gamma coactivator 1 alpha transcript variant B4-8a, peroxisome proliferator-activated receptor gamma coactivator 1 alpha transcript variant B5-NT
 
Function
Transcriptional coactivator for steroid receptors and nuclear receptors. Greatly increases the transcriptional activity of PPARG and thyroid hormone receptor on the uncoupling protein promoter. Can regulate key mitochondrial genes that contribute to the program of adaptive thermogenesis. Plays an essential role in metabolic reprogramming in response to dietary availability through coordination of the expression of a wide array of genes involved in glucose and fatty acid metabolism. Induces the expression of PERM1 in the skeletal muscle in an ESRRA-dependent manner. Also involved in the integration of the circadian rhythms and energy metabolism. Required for oscillatory expression of clock genes, such as ARNTL/BMAL1 and NR1D1, through the coactivation of RORA and RORC, and metabolic genes, such as PDK4 and PEPCK.
 
Refseq Proteins
 
UniProt
 
PDB
Pathways
 
KEGG
 
Reactome
 

AMPK signaling pathway
Longevity regulating pathway
Apelin signaling pathway
Thermogenesis
Insulin signaling pathway
Adipocytokine signaling pathway
Glucagon signaling pathway
Insulin resistance
Huntington disease

 

PPARA activates gene expression
Transcriptional activation of mitochondrial biogenesis
Transcriptional regulation of white adipocyte differentiation
Circadian Clock
Regulation of RUNX2 expression and activity

Interactions
 
STRING MINT IntAct
ENSP00000358404 Q9NQB0 Q9NQB0
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Heart Failure
Myocardial Failure
Myocardial Infarction
Endocrine System Diseases
Diabetes Mellitus
Neuronal ceroid lipofuscinosis
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
PPAR-alpha Leu162Val, PPAR-delta rs2267668A/G, PPAR-delta-87T/C, PPAR-gamma2 Pro12Ala and PPAR-gamma2 -681C/G variants 
 
Gly482Ser variant in PPARGC1A 
 
Direct 
 
Common polymorphisms in the PPARGC1A, PPAR-delta and PPAR-gamma2 loci are associated with PCOS. 

| © 2019, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412