ENSG00000109819


Homo sapiens

Features
Gene ID: ENSG00000109819
  
Biological name :PPARGC1A
  
Synonyms : PPARGC1A / PPARG coactivator 1 alpha / Q9UBK2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: -1
Band: p15.2
Gene start: 23755041
Gene end: 23904089
  
Corresponding Affymetrix probe sets: 1569141_a_at (Human Genome U133 Plus 2.0 Array)   219195_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000423075
Ensembl peptide - ENSP00000421632
Ensembl peptide - ENSP00000424181
Ensembl peptide - ENSP00000481498
Ensembl peptide - ENSP00000479729
Ensembl peptide - ENSP00000477921
Ensembl peptide - ENSP00000264867
NCBI entrez gene - 10891     See in Manteia.
OMIM - 604517
RefSeq - XM_017007664
RefSeq - NM_001354827
RefSeq - NM_001354828
RefSeq - NM_013261
RefSeq - XM_005248131
RefSeq - XM_005248132
RefSeq - XM_005248134
RefSeq - XM_011513765
RefSeq - XM_011513766
RefSeq - XM_011513767
RefSeq - XM_011513768
RefSeq - XM_011513770
RefSeq - XM_011513771
RefSeq - NM_001330752
RefSeq - NM_001330753
RefSeq - NM_001354825
RefSeq Peptide - NP_001341754
RefSeq Peptide - NP_001341756
RefSeq Peptide - NP_001341757
RefSeq Peptide - NP_037393
RefSeq Peptide - NP_001317681
RefSeq Peptide - NP_001317682
RefSeq Peptide - NP_001341755
swissprot - A0A087WVW3
swissprot - A0A087WTJ3
swissprot - D6RBF3
swissprot - Q9UBK2
swissprot - A0A024R9Q9
Ensembl - ENSG00000109819
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ppargc1aENSDARG00000067829Danio rerio
 PPARGC1AENSGALG00000042851Gallus gallus
 O70343ENSMUSG00000029167Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PPRC1 / Q5VV67 / peroxisome proliferator-activated receptor gamma, coactivator-related 1ENSG0000014884032
Q86YN6 / PPARGC1B / PPARG coactivator 1 betaENSG0000015584631


Protein motifs (from Interpro)
Interpro ID Name
 IPR000504  RNA recognition motif domain
 IPR034605  PGC-1
 IPR034625  Peroxisome proliferator-activated receptor gamma coactivator 1-alpha
 IPR034833  PGC-1alpha, RNA recognition motif
 IPR035979  RNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000302 response to reactive oxygen species IEA
 biological_processGO:0000422 autophagy of mitochondrion IEA
 biological_processGO:0001659 temperature homeostasis TAS
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0001678 cellular glucose homeostasis NAS
 biological_processGO:0001933 negative regulation of protein phosphorylation IEA
 biological_processGO:0002021 response to dietary excess IEA
 biological_processGO:0002931 response to ischemia IEA
 biological_processGO:0006012 galactose metabolic process IEA
 biological_processGO:0006094 gluconeogenesis NAS
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006367 transcription initiation from RNA polymerase II promoter TAS
 biological_processGO:0006397 mRNA processing TAS
 biological_processGO:0007005 mitochondrion organization IEA
 biological_processGO:0007568 aging IEA
 biological_processGO:0007586 digestion TAS
 biological_processGO:0007623 circadian rhythm TAS
 biological_processGO:0008209 androgen metabolic process IEA
 biological_processGO:0008380 RNA splicing TAS
 biological_processGO:0009409 response to cold IEA
 biological_processGO:0009750 response to fructose IEA
 biological_processGO:0010822 positive regulation of mitochondrion organization ISS
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0014732 skeletal muscle atrophy IEA
 biological_processGO:0014823 response to activity IEA
 biological_processGO:0014850 response to muscle activity ISS
 biological_processGO:0014878 response to electrical stimulus involved in regulation of muscle adaptation IEA
 biological_processGO:0014912 negative regulation of smooth muscle cell migration IEA
 biological_processGO:0019395 fatty acid oxidation NAS
 biological_processGO:0021549 cerebellum development IEA
 biological_processGO:0022904 respiratory electron transport chain ISS
 biological_processGO:0030521 androgen receptor signaling pathway NAS
 biological_processGO:0030900 forebrain development IEA
 biological_processGO:0031325 positive regulation of cellular metabolic process IEA
 biological_processGO:0031667 response to nutrient levels IEA
 biological_processGO:0032922 circadian regulation of gene expression ISS
 biological_processGO:0034599 cellular response to oxidative stress ISS
 biological_processGO:0035066 positive regulation of histone acetylation TAS
 biological_processGO:0035865 cellular response to potassium ion IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0042594 response to starvation NAS
 biological_processGO:0042752 regulation of circadian rhythm ISS
 biological_processGO:0043201 response to leucine IEA
 biological_processGO:0043524 negative regulation of neuron apoptotic process ISS
 biological_processGO:0045333 cellular respiration TAS
 biological_processGO:0045722 positive regulation of gluconeogenesis TAS
 biological_processGO:0045820 negative regulation of glycolytic process IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0046321 positive regulation of fatty acid oxidation TAS
 biological_processGO:0048511 rhythmic process IEA
 biological_processGO:0048661 positive regulation of smooth muscle cell proliferation IEA
 biological_processGO:0048662 negative regulation of smooth muscle cell proliferation IEA
 biological_processGO:0050821 protein stabilization TAS
 biological_processGO:0050873 brown fat cell differentiation IEA
 biological_processGO:0051091 positive regulation of DNA-binding transcription factor activity IDA
 biological_processGO:0051552 flavone metabolic process IEA
 biological_processGO:0051602 response to electrical stimulus IEA
 biological_processGO:0060612 adipose tissue development IEA
 biological_processGO:0065003 protein-containing complex assembly TAS
 biological_processGO:0071222 cellular response to lipopolysaccharide IEA
 biological_processGO:0071250 cellular response to nitrite IEA
 biological_processGO:0071313 cellular response to caffeine IEA
 biological_processGO:0071332 cellular response to fructose stimulus IEA
 biological_processGO:0071333 cellular response to glucose stimulus IEA
 biological_processGO:0071354 cellular response to interleukin-6 IEA
 biological_processGO:0071356 cellular response to tumor necrosis factor IEA
 biological_processGO:0071372 cellular response to follicle-stimulating hormone stimulus IEA
 biological_processGO:0071392 cellular response to estradiol stimulus IEA
 biological_processGO:0071398 cellular response to fatty acid IEA
 biological_processGO:0071456 cellular response to hypoxia IEA
 biological_processGO:0071560 cellular response to transforming growth factor beta stimulus IEA
 biological_processGO:0071871 response to epinephrine IEA
 biological_processGO:0071873 response to norepinephrine IEA
 biological_processGO:0090258 negative regulation of mitochondrial fission IEA
 biological_processGO:0097066 response to thyroid hormone IEA
 biological_processGO:0097067 cellular response to thyroid hormone stimulus IEA
 biological_processGO:1901215 negative regulation of neuron death IGI
 biological_processGO:1901558 response to metformin IEA
 biological_processGO:1901857 positive regulation of cellular respiration IEA
 biological_processGO:1901860 positive regulation of mitochondrial DNA metabolic process IEA
 biological_processGO:1901863 positive regulation of muscle tissue development IEA
 biological_processGO:1903506 regulation of nucleic acid-templated transcription IEA
 biological_processGO:1904635 positive regulation of glomerular visceral epithelial cell apoptotic process IEA
 biological_processGO:1904637 cellular response to ionomycin IEA
 biological_processGO:1904639 cellular response to resveratrol IEA
 biological_processGO:1904640 response to methionine IEA
 biological_processGO:1990845 adaptive thermogenesis IEA
 biological_processGO:2000184 positive regulation of progesterone biosynthetic process IEA
 biological_processGO:2000272 negative regulation of signaling receptor activity IEA
 biological_processGO:2000310 regulation of NMDA receptor activity IEA
 biological_processGO:2001171 positive regulation of ATP biosynthetic process ISS
 cellular_componentGO:0005634 nucleus TAS
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005665 DNA-directed RNA polymerase II, core complex TAS
 cellular_componentGO:0005719 nuclear euchromatin IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0016605 PML body IEA
 cellular_componentGO:0022626 cytosolic ribosome IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0097440 apical dendrite IEA
 cellular_componentGO:1990843 subsarcolemmal mitochondrion IEA
 cellular_componentGO:1990844 interfibrillar mitochondrion IEA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003677 DNA binding TAS
 molecular_functionGO:0003682 chromatin binding IEA
 molecular_functionGO:0003712 transcription coregulator activity IEA
 molecular_functionGO:0003713 transcription coactivator activity IDA
 molecular_functionGO:0003723 RNA binding TAS
 molecular_functionGO:0005102 signaling receptor binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IEA
 molecular_functionGO:0016922 nuclear receptor binding IPI
 molecular_functionGO:0030331 estrogen receptor binding IEA
 molecular_functionGO:0030374 nuclear receptor transcription coactivator activity IDA
 molecular_functionGO:0031490 chromatin DNA binding ISS
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0042975 peroxisome proliferator activated receptor binding IEA
 molecular_functionGO:0043014 alpha-tubulin binding IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IDA
 molecular_functionGO:0050681 androgen receptor binding NAS
 molecular_functionGO:1990841 promoter-specific chromatin binding IEA


Pathways (from Reactome)
Pathway description
PPARA activates gene expression
Transcriptional activation of mitochondrial biogenesis
Activation of PPARGC1A (PGC-1alpha) by phosphorylation
Transcriptional regulation of white adipocyte differentiation
SUMOylation of transcription cofactors
Circadian Clock
Regulation of RUNX2 expression and activity


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000217 Xerostomia "Dryness of the mouth due to salivary gland dysfunction." [HPO:curators]
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 HP:0000712 Emotional lability 
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 HP:0000713 Agitation 
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000739 Anxiety 
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 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
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 HP:0002017 Nausea and vomiting 
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 HP:0002094 Dyspnea 
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 HP:0002180 Neurodegeneration 
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 HP:0002878 Early respiratory failure 
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003324 Generalized muscle weakness "Generalized weakness or decreased strength of the muscles." [HPO:curators]
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 HP:0003394 Muscle cramps 
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 HP:0003470 Paralysis "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement." [HPO:curators]
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 HP:0005945 Laryngeal obstruction 
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 HP:0007354 Amyotrophic lateral sclerosis 
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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 HP:0012531 Pain "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [ORCID:0000-0001-5208-3432]
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 HP:0030195 Fatigable weakness of swallowing muscles "A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [pmid:17986328, UK:rheller]
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 HP:0030196 Fatigable weakness of respiratory muscles "A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UNCL:mbertoli]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000188130 MAPK12 / P53778 / mitogen-activated protein kinase 12  / reaction
 ENSG00000111725 PRKAB1 / Q9Y478 / protein kinase AMP-activated non-catalytic subunit beta 1  / reaction
 ENSG00000112062 MAPK14 / Q16539 / mitogen-activated protein kinase 14  / reaction
 ENSG00000131791 O43741 / PRKAB2 / protein kinase AMP-activated non-catalytic subunit beta 2  / reaction
 ENSG00000115592 PRKAG3 / Q9UGI9 / protein kinase AMP-activated non-catalytic subunit gamma 3  / reaction
 ENSG00000106459 NRF1 / Q16656 / nuclear respiratory factor 1  / complex / reaction
 ENSG00000103275 UBE2I / P63279 / ubiquitin conjugating enzyme E2 I  / reaction
 ENSG00000116030 SUMO1 / P63165 / small ubiquitin-like modifier 1  / reaction / complex
 ENSG00000116604 MEF2D / Q14814 / myocyte enhancer factor 2D  / complex
 ENSG00000173153 ESRRA / P11474 / estrogen related receptor alpha  / complex
 ENSG00000069667 RORA / P35398 / RAR related orphan receptor A  / complex
 ENSG00000081189 MEF2C / Q06413 / myocyte enhancer factor 2C  / complex
 ENSG00000100393 EP300 / Q09472 / E1A binding protein p300  / complex
 ENSG00000106617 PRKAG2 / Q9UGJ0 / protein kinase AMP-activated non-catalytic subunit gamma 2  / reaction
 ENSG00000181929 P54619 / PRKAG1 / protein kinase AMP-activated non-catalytic subunit gamma 1  / reaction
 ENSG00000180530 NRIP1 / P48552 / nuclear receptor interacting protein 1  / complex
 ENSG00000185386 MAPK11 / Q15759 / mitogen-activated protein kinase 11  / reaction
 ENSG00000162409 P54646 / PRKAA2 / protein kinase AMP-activated catalytic subunit alpha 2  / reaction






 

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