AutismKB 2.0

Annotation Details for PPARGC1A


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Basic Information Top
Gene Symbol:PPARGC1A ( LEM6,PGC-1(alpha),PGC-1v,PGC1,PGC1A,PPARGC1 )
Gene Full Name: peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
Band: 4p15.2
Quick LinksEntrez ID:10891; OMIM: 604517; Uniprot ID:PRGC1_HUMAN; ENSEMBL ID: ENSG00000109819; HGNC ID: 9237
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus23836911
GO:0005634ISS-nucleus-
GO:0005634TAS-nucleus12588810
GO:0005654IDA-nucleoplasm-
GO:0005654TAS-nucleoplasm-
GO:0005665TAS-DNA-directed RNA polymerase II, core complex12588810
GO:0005719IEA-nuclear euchromatin-
GO:0016605IEA-PML body-
GO:0022626IEA-cytosolic ribosome-
GO:0043025IEA-neuronal cell body-
GO:0043231IDA-intracellular membrane-bounded organelle-
GO:0097440IEA-apical dendrite-
GO:1990843IEA-subsarcolemmal mitochondrion-
GO:1990844IEA-interfibrillar mitochondrion-
GO ID Evidence Qualifier GO_term References
GO:0001104TAS-RNA polymerase II transcription cofactor activity14636573
GO:0003677ISS-DNA binding-
GO:0003677TAS-DNA binding10713165
GO:0003713IDA-transcription coactivator activity19651776
GO:0003723TAS-RNA binding12588810
GO:0005515IPI-protein binding17050673
GO:0008134TAS-transcription factor binding12588810
GO:0016922IPI-ligand-dependent nuclear receptor binding18798693
GO:0030331IEA-estrogen receptor binding-
GO:0030374IDA-ligand-dependent nuclear receptor transcription coactivator activity16488887
GO:0031490ISS-chromatin DNA binding-
GO:0031625IPI-ubiquitin protein ligase binding22064484
GO:0042975IEA-peroxisome proliferator activated receptor binding-
GO:0043014IEA-alpha-tubulin binding-
GO:0043565IDA-sequence-specific DNA binding23836911
GO:0050681NAS-androgen receptor binding15572661
GO:1990841IEA-promoter-specific chromatin binding-
GO ID Evidence Qualifier GO_term References
GO:0000302IEA-response to reactive oxygen species-
GO:0000422IEA-mitophagy-
GO:0001659TAS-temperature homeostasis1258810
GO:0001678NAS-cellular glucose homeostasis11854298
GO:0001933IEA-negative regulation of protein phosphorylation-
GO:0002021IEA-response to dietary excess-
GO:0002931IEA-response to ischemia-
GO:0006012IEA-galactose metabolic process-
GO:0006094NAS-gluconeogenesis11854298
GO:0006355IDA-regulation of transcription, DNA-templated23836911
GO:0006367TAS-transcription initiation from RNA polymerase II promoter14636573
GO:0006397TAS-mRNA processing12588810
GO:0006461TAS-protein complex assembly14636573
GO:0007005NAS-mitochondrion organization11854298
GO:0007005TAS-mitochondrion organization-
GO:0007568IEA-aging-
GO:0007586TAS-digestion10585775
GO:0007623TAS-circadian rhythm-
GO:0008209IEA-androgen metabolic process-
GO:0008380TAS-RNA splicing12588810
GO:0009409IEA-response to cold-
GO:0010822IMP-positive regulation of mitochondrion organization25118933
GO:0010822ISS-positive regulation of mitochondrion organization-
GO:0014732IEA-skeletal muscle atrophy-
GO:0014850ISS-response to muscle activity-
GO:0014878IEA-response to electrical stimulus involved in regulation of muscle adaptation-
GO:0014912IEA-negative regulation of smooth muscle cell migration-
GO:0019395NAS-fatty acid oxidation11854298
GO:0021549IEA-cerebellum development-
GO:0022904ISS-respiratory electron transport chain-
GO:0030521NAS-androgen receptor signaling pathway15572661
GO:0030900IEA-forebrain development-
GO:0032922ISS-circadian regulation of gene expression-
GO:0034599ISS-cellular response to oxidative stress-
GO:0035066TAS-positive regulation of histone acetylation14636573
GO:0035865IEA-cellular response to potassium ion-
GO:0042493IEA-response to drug-
GO:0042594NAS-response to starvation11854298
GO:0042752ISS-regulation of circadian rhythm-
GO:0043201IEA-response to leucine-
GO:0043524ISS-negative regulation of neuron apoptotic process-
GO:0045333TAS-cellular respiration11551810
GO:0045722TAS-positive regulation of gluconeogenesis12588810
GO:0045820IEA-negative regulation of glycolytic process-
GO:0045893IDA-positive regulation of transcription, DNA-templated16488887
GO:0045893NAS-positive regulation of transcription, DNA-templated15572661
GO:0045944IDA-positive regulation of transcription from RNA polymerase II promoter21376232
GO:0045944ISS-positive regulation of transcription from RNA polymerase II promoter-
GO:0046321TAS-positive regulation of fatty acid oxidation12588810
GO:0048661IEA-positive regulation of smooth muscle cell proliferation-
GO:0048662IEA-negative regulation of smooth muscle cell proliferation-
GO:0050821TAS-protein stabilization14636573
GO:0050873TAS-brown fat cell differentiation12588810
GO:0051091IDA-positive regulation of sequence-specific DNA binding transcription factor activity19651776
GO:0051552IEA-flavone metabolic process-
GO:0060612IEA-adipose tissue development-
GO:0071222IEA-cellular response to lipopolysaccharide-
GO:0071250IEA-cellular response to nitrite-
GO:0071313IEA-cellular response to caffeine-
GO:0071332IEA-cellular response to fructose stimulus-
GO:0071333IEA-cellular response to glucose stimulus-
GO:0071354IEA-cellular response to interleukin-6-
GO:0071356IEA-cellular response to tumor necrosis factor-
GO:0071372IEA-cellular response to follicle-stimulating hormone stimulus-
GO:0071392IEA-cellular response to estradiol stimulus-
GO:0071456IEA-cellular response to hypoxia-
GO:0071560IEA-cellular response to transforming growth factor beta stimulus-
GO:0071871IEA-response to epinephrine-
GO:0071873IEA-response to norepinephrine-
GO:0090258IEA-negative regulation of mitochondrial fission-
GO:0097067IEA-cellular response to thyroid hormone stimulus-
GO:1901215IGI-negative regulation of neuron death21376232
GO:1901558IEA-response to metformin-
GO:1901857IEA-positive regulation of cellular respiration-
GO:1901860IEA-positive regulation of mitochondrial DNA metabolic process-
GO:1901863IEA-positive regulation of muscle tissue development-
GO:1904635IEA-positive regulation of glomerular visceral epithelial cell apoptotic process-
GO:1904637IEA-cellular response to ionomycin-
GO:1904639IEA-cellular response to resveratrol-
GO:1904640IEA-response to methionine-
GO:1990845IEA-adaptive thermogenesis-
GO:2000184IEA-positive regulation of progesterone biosynthetic process-
GO:2000272IEA-negative regulation of receptor activity-
GO:2000310IEA-regulation of NMDA receptor activity-
GO:2000507ISS-positive regulation of energy homeostasis-
GO:2001171ISS-positive regulation of ATP biosynthetic process-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PPARGC1ACREBBP11609710558993 Affinity Capture-Western; Reconstituted Complex
PPARGC1ACREBBP10777710558993 Affinity Capture-Western; Reconstituted Complex
PPARGC1AEP30010834717050673 Affinity Capture-MS
PPARGC1AEP30011609717050673 Affinity Capture-MS
PPARGC1AESR110840310748020 Reconstituted Complex
PPARGC1AESR111609710748020 Reconstituted Complex
PPARGC1AESRRA11609715337744 Co-crystal Structure
PPARGC1AESRRA10840515337744 Co-crystal Structure
PPARGC1AESRRG11609715821111 Reconstituted Complex
PPARGC1AESRRG10840715821111 Reconstituted Complex
PPARGC1ANR3C111609710713165 Two-hybrid
PPARGC1ANR3C110916510713165 Two-hybrid
PPARGC1AGSK3B11609718198341 Biochemical Activity
PPARGC1AGSK3B10918718198341 Biochemical Activity
PPARGC1AHCFC111609711733490 Affinity Capture-Western
PPARGC1AHCFC110930411733490 Affinity Capture-Western
PPARGC1AHNF4A11609715322103 17636037 18552123 Affinity Capture-Western; Reconstituted Complex
PPARGC1AHNF4A10941415322103 17636037 18552123 Affinity Capture-Western; Reconstituted Complex
PPARGC1AMYOD111609719553684 Co-localization
PPARGC1AMYOD111073719553684 Co-localization
PPARGC1ANRF111609710412986 Affinity Capture-Western; Reconstituted Complex
PPARGC1ANRF111095510412986 Affinity Capture-Western; Reconstituted Complex
PPARGC1APPARA11609710669761 Reconstituted Complex
PPARGC1APPARA11146110669761 Reconstituted Complex
PPARGC1APPARG11609710558993 14636573 Reconstituted Complex
PPARGC1APPARG11146410558993 14636573 Reconstituted Complex
PPARGC1AMED111146514636573 Affinity Capture-Western; Reconstituted Complex
PPARGC1AMED111609714636573 Affinity Capture-Western; Reconstituted Complex
PPARGC1ARXRA11609711714715 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
PPARGC1ARXRA11216811714715 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
PPARGC1ASRSF211232510983978 Affinity Capture-Western
PPARGC1ASRSF211609710983978 Affinity Capture-Western
PPARGC1ASRSF411232710983978 Affinity Capture-Western
PPARGC1ASRSF411609710983978 Affinity Capture-Western
PPARGC1ASRSF511232810983978 Affinity Capture-Western
PPARGC1ASRSF511609710983978 Affinity Capture-Western
PPARGC1ASRSF611232910983978 Affinity Capture-Western
PPARGC1ASRSF611609710983978 Affinity Capture-Western
PPARGC1ATHRB11609711751919 Affinity Capture-Western; Reconstituted Complex
PPARGC1ATHRB11292411751919 Affinity Capture-Western; Reconstituted Complex
PPARGC1AUBC11609718198341 Affinity Capture-Western
PPARGC1AUBC11316418198341 Affinity Capture-Western
PPARGC1ANCOA111420010558993 Affinity Capture-Western; Reconstituted Complex
PPARGC1ANCOA111609710558993 Affinity Capture-Western; Reconstituted Complex
PPARGC1AIQGAP111609717050673 Affinity Capture-MS
PPARGC1AIQGAP111435317050673 Affinity Capture-MS
PPARGC1ANR1I211609715322103 Affinity Capture-Western; Reconstituted Complex
PPARGC1ANR1I211438015322103 Affinity Capture-Western; Reconstituted Complex
PPARGC1AMED1411469914636573 Affinity Capture-Western; Reconstituted Complex
PPARGC1AMED1411609714636573 Affinity Capture-Western; Reconstituted Complex
PPARGC1AMED2111480714636573 Affinity Capture-Western
PPARGC1AMED2111609714636573 Affinity Capture-Western
PPARGC1AMED1711483014636573 Affinity Capture-Western; Reconstituted Complex
PPARGC1AMED1711609714636573 Affinity Capture-Western; Reconstituted Complex
PPARGC1AMED2011486214636573 Affinity Capture-Western
PPARGC1AMED2011609714636573 Affinity Capture-Western
PPARGC1AMED1211529314636573 Affinity Capture-Western; Reconstituted Complex
PPARGC1AMED1211609714636573 Affinity Capture-Western; Reconstituted Complex
PPARGC1ANR1H411529614729567 Affinity Capture-Western; Reconstituted Complex
PPARGC1ANR1H411609714729567 Affinity Capture-Western; Reconstituted Complex
PPARGC1AMED1611609714636573 Affinity Capture-Western
PPARGC1AMED1611534214636573 Affinity Capture-Western
PPARGC1ALRPPRC11543217050673 Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
PPARGC1ALRPPRC11609717050673 Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
MYEF2PPARGC1A11912415111488 Affinity Capture-Western
MYEF2PPARGC1A11609715111488 Affinity Capture-Western
FBXW7PPARGC1A12058118198341 Affinity Capture-Western; Reconstituted Complex
FBXW7PPARGC1A11609718198341 Affinity Capture-Western; Reconstituted Complex
NCOA6PPARGC1A11609718552123 Reconstituted Complex
NCOA6PPARGC1A11669118552123 Reconstituted Complex
SIRT1PPARGC1A11698319553684 Co-localization
SIRT1PPARGC1A11609719553684 Co-localization
No data
No data
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
PPARGC1Ars17574213, rs2290604, rs2970848, rs2970852, rs3755863, rs3774923, rs7665116, rs7672915, rs7695542, rs8192678 Gene overview in AlzGene
No data
No data
Animal Model Top
  • MGI ID: MGI:1342774
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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