Gene Gene information from NCBI Gene database.
Entrez ID 10891
Gene name PPARG coactivator 1 alpha
Gene symbol PPARGC1A
Synonyms (NCBI Gene)
LEM6PGC-1(alpha)PGC-1alphaPGC-1vPGC1PGC1APPARGC1
Chromosome 4
Chromosome location 4p15.2
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 protei
miRNA miRNA information provided by mirtarbase database.
489
miRTarBase ID miRNA Experiments Reference
MIRT006280 hsa-miR-23a-3p Luciferase reporter assay 22318941
MIRT006280 hsa-miR-23a-3p Luciferase reporter assay 22318941
MIRT006280 hsa-miR-23a-3p Luciferase reporter assay 22318941
MIRT006280 hsa-miR-23a-3p Luciferase reporter assay 22318941
MIRT006280 hsa-miR-23a-3p Luciferase reporter assay 22318941
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
CRTC1 Activation 10893434
MEF2A Unknown 18222924
MITF Activation 23416000
TP53 Unknown 19139068
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
91
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IC 27471003
GO:0001659 Process Temperature homeostasis TAS 1258810
GO:0001678 Process Intracellular glucose homeostasis NAS 11854298
GO:0002021 Process Response to dietary excess IEA
GO:0003676 Function Nucleic acid binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604517 9237 ENSG00000109819
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UBK2
Protein name Peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1-alpha) (PPAR-gamma coactivator 1-alpha) (PPARGC-1-alpha) (Ligand effect modulator 6)
Protein function Transcriptional coactivator for steroid receptors and nuclear receptors (PubMed:10713165, PubMed:20005308, PubMed:21376232, PubMed:28363985, PubMed:32433991). Greatly increases the transcriptional activity of PPARG and thyroid hormone receptor o
PDB 1XB7 , 3B1M , 3CS8 , 3D24 , 3U9Q , 3V9T , 3V9V , 4QJR , 4QK4 , 5Q0I , 5TWO , 5UNJ , 5Z5S , 5Z6S , 6AD9 , 6FZF , 6FZP , 6IZM , 6IZN , 6K0T , 6KXX , 6KXY , 6LN4 , 6MS7 , 6NWK , 6NWL , 6T1V , 6W9K , 6W9L , 7E2E , 7KHT , 7PRV , 7PRW , 7PRX , 8BF1 , 8DK4 , 9F7W , 9F7X
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 679 742 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Heart, skeletal muscle, liver and kidney. Expressed at lower levels in brain and pancreas and at very low levels in the intestine and white adipose tissue. In skeletal muscle, levels were lower in obese than in lean subjects and fastin
Sequence
MAWDMCNQDSESVWSDIECAALVGEDQPLCPDLPELDLSELDVNDLDTDSFLGGLKWCSD
QSEIISNQYNNEPSNIFEKIDEENEANLLAVLTETLDSLPVDEDGLPSFDALTDGDVTTD
NEASPSSMPDGTPPPQEAEEPSLLKKLLLAPANTQLSYNECSGLSTQNHANHNHRIRTNP
AIVKTENSWSNKAKSICQQQKPQRRPCSELLKYLTTNDDPPHTKPTENRNSSRDKCTSKK
KSHTQSQSQHLQAKPTTLSLPLTPESPNDPKGSPFENKTIERTLSVELSGTAGLTPPTTP
PHKANQDNPFRASPKLKSSCKTVVPPPSKKPRYSESSGTQGNNSTKKGPEQSELYAQLSK
SSVLTGGHEERKTKRPSLRLFGDHDYCQSINSKTEILINISQELQDSRQLENKDVSSDWQ
GQICSSTDSDQCYLRETLEASKQVSPCSTRKQLQDQEIRAELNKHFGHPSQAVFDDEADK
TGELRDSDFSNEQFSKLPMFINSGLAMDGLFDDSEDESDKLSYPWDGTQSYSLFNVSPSC
SSFNSPCRDSVSPPKSLFSQRPQRMRSRSRSFSRHRSCSRSPYSRSRSRSPGSRSSSRSC
YYYESSHYRHRTHRNSPLYVRSRSRSPYSRRPRYDSYEEYQHERLKREEYRREYEKRESE
RAKQRERQRQKAIEERRVIYVGKIRPDTTRTELRDRFEVFGEIEECTVNLRDDGDSYGFI
TYRYTCDAFAALENGYTLRRSN
ETDFELYFCGRKQFFKSNYADLDSNSDDFDPASTKSKY
DSLDFDSLLKEAQRSLRR
Sequence length 798
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
36
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BOWEN'S DISEASE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BUNDLE BRANCH BLOCK GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute pancreatitis Pancreatitis BEFREE 30221360, 30570131
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 25331784
★☆☆☆☆
Found in Text Mining only
Adrenal Hyperplasia Congenital Congenital adrenal hyperplasia Pubtator 34373561 Associate
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 23335958, 29925537, 30087287, 30253279
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 22077634 Inhibit
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31081111, 31283791, 40642087 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 21799244
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 24398293, 28946859
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis GWASDB_DG 17362836
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 20840068, 22560226, 22975021, 23147503, 23669350, 24398293, 28603486, 29282717, 29580918
★★☆☆☆
Found in Text Mining + Unknown/Other Associations