PPARGC1A

Gene Information
 
Gene Symbol
PPARGC1A
 
Aliases
LEM6, PGC-1(alpha), PGC-1v, PGC1, PGC1A, PPARGC1
 
Entrez Gene ID
 
Gene Name
Peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
 
Chromosomal Location
4p15.1
 
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)
 
GeneCards ID
 
UniGene
 
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 Definition 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:0006367 Biological process Transcription initiation from RNA polymerase II promoter TAS 14636573
GO:0006397 Biological process MRNA processing TAS 12588810
Protein Information
 
Protein Name
L-PGC-1alpha, PGC-1-alpha, PPAR gamma coactivator variant form, PPARGC-1-alpha, ligand effect modulator-6, peroxisome proliferator-activated receptor gamma coactivator 1 alpha transcript variant B4, 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, 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
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
Accessions
IPR012677, IPR000504
 
Pfam
Pfam Accession Pfam ID
PF00076 RRM_1 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)
 
KEGG
 
OMIM

Associated Diseases

Diseases References
Alzheimers disease 18072811, 15993441, 19631630, 18573313, 16733054, 17569578, 15320743, 16787414, 15946122, 17805244, 10695726, 17803977, 18212130, 11755002, 11220752, 10632585, 20336061, 19199928, 18625459, 9920782, 18645613, 16454728, 20520853, 19422805, 18753719, 17440948, 15666037, 15574741, 12448960, 19109927, 17270153, 11277593, 16766086, 12467491, 18615183, 19129679
Bone loss 17259667, 17259664, 17259663
Cancer (adenoma) 12931546, 15483076, 19797117, 15362967, 18465691, 12161538, 18570731, 16900637, 17561883, 16201313, 16419492, 12727930, 15191358, 17671378, 16430724, 19300395, 19919817, 18465691, 15538937, 14971739, 14522940, 14713549, 11950812, 17167986, 17561883, 15191358, 16201313, 15550453, 15362967, 16775170
Cancer (carcinoma papillary) 15362967, 15274390, 12931546, 16209039, 18688583, 11344222
Cardiovascular diseases 19129679, 15320743, 20158101, 18417957, 11872377, 14732733, 16335797, 16556873, 12663371, 16360030, 19646657, 11374025, 19228871, 18580862, 18370623, 18288288, 16831022, 14566384, 19796634, 18552452, 19808901, 19515415, 19490202, 18308193, 18241614, 18071073, 18001313, 16563944, 15117825, 19117570, 18220629, 18288291, 17076999, 11861659, 12957321, 10408502, 19569080, 17240171, 15830032, 15234647, 14521714, 12861348, 18173954, 15142970, 19620300, 17164134, 16696956, 18922179, 19118492
   
References
 
Primary:

The role of genetic variation in peroxisome proliferator-activated receptors in the polycystic ovary syndrome (PCOS): an original case-control study followed by systematic review and meta-analysis of existing evidence.

San-Millan Jose L, Escobar-Morreale Hector F
Department of Molecular Genetics, Hospital Universitario Ramon y Cajal & Universidad de Alcala, Madrid, Spain.
Clin Endocrinol (Oxf). 2010 Mar;72(3):383-92. doi:
 
Supporting Literature:
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. 

 

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