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PPARGC1A Gene

protein-coding   GIFtS: 64
GCID: GC04M023793

Peroxisome Proliferator-Activated Receptor Gamma, Coactivator...

(Previous names: peroxisome proliferative activated receptor, gamma, coactivator...)
(Previous symbol: PPARGC1)
  See PPARGC1A-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Peroxisome Proliferator-Activated Receptor Gamma, Coactivator 1
Alpha1 2
     PGC-1v2
PPARGC11 2 3 5     Ligand Effect Modulator-62
LEM62 3     Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1 Alpha
Transcript Variant B42
PGC-1-alpha2 3     Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1 Alpha
Transcript Variant B4-3ext2
PGC12 3     Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1 Alpha
Transcript Variant B4-8a2
PGC1A2 3     Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1 Alpha
Transcript Variant B52
PPARGC-1-alpha2 3     Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1 Alpha
Transcript Variant B5-NT2
Peroxisome Proliferative Activated Receptor, Gamma, Coactivator 11     Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-Alpha2
Peroxisome Proliferative Activated Receptor, Gamma, Coactivator 1, Alpha1     PPAR Gamma Coactivator Variant Form2
L-PGC-1alpha2     Ligand Effect Modulator 63
PGC-1(alpha)2     PPAR-Gamma Coactivator 1-Alpha3

External Ids:    HGNC: 92371   Entrez Gene: 108912   Ensembl: ENSG000001098197   OMIM: 6045175   UniProtKB: Q9UBK23   
ORGUL members:         

Export aliases for PPARGC1A gene to outside databases

Previous GC identifers: GC04M023544 GC04M023469 GC04M023138


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PPARGC1A Gene:
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 Summary for PPARGC1A Gene:
PPARGC1A (peroxisome proliferator-activated receptor gamma, coactivator 1 alpha) is a protein-coding gene. Diseases associated with PPARGC1A include multiple symmetric lipomatosis, and lipomatosis. GO annotations related to this gene include RNA binding and transcription factor binding. An important paralog of this gene is PPARGC1B.

UniProtKB/Swiss-Prot: PRGC1_HUMAN, Q9UBK2
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

Gene Wiki entry for PPARGC1A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_006316.17  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PPARGC1A gene promoter:
         MEF-2A   CREB   deltaCREB   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPPARGC1A promoter sequence
   Search Chromatin IP Primers for PPARGC1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PPARGC1A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p15.1   Ensembl cytogenetic band:  4p15.2   HGNC cytogenetic band: 4p15.1

PPARGC1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PPARGC1A gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M023793:  view genomic region     (about GC identifiers)

Start:
23,756,664 bp from pter      End:
23,905,712 bp from pter
Size:
149,049 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PRGC1_HUMAN, Q9UBK2 (See protein sequence)
Recommended Name: Peroxisome proliferator-activated receptor gamma coactivator 1-alpha  
Size: 798 amino acids; 91027 Da
Subunit: Binds MYBBP1A, which inhibits transcriptional activation by this protein (By similarity). Interacts with
PRDM16 (By similarity). Interacts with LRPPRC. Homooligomer. Interacts with LPIN1 (By similarity). Interacts with
PML (By similarity)
Selected PDB 3D structures from and Proteopedia for PPARGC1A (see all 7):
1XB7 (3D)        3B1M (3D)        3CS8 (3D)        3D24 (3D)        3U9Q (3D)        3V9T (3D)    
Secondary accessions: B7Z406 G8DM16 I3RTT5 I3RTT6 I3RTT7 I3RTT8 I3RTT9 Q3LIG1 Q4W5M7 Q9UN32
Alternative promoter usage, Alternative splicing: 9 isoforms:  Q9UBK2-1   Q9UBK2-2   Q9UBK2-3   Q9UBK2-4   Q9UBK2-5   Q9UBK2-6   Q9UBK2-7   Q9UBK2-8   
Q9UBK2-9   (Produced by alternative promoter usage. May be involved in gluconeogenesis, liver-specific)

Explore the universe of human proteins at neXtProt for PPARGC1A: NX_Q9UBK2

Explore proteomics data for PPARGC1A at MOPED

Post-translational modifications: 

  • Phosphorylation by AMPK in skeletal muscle increases activation of its own promoter (By similarity).
    Phosphorylated by CLK2 (By similarity)1
  • Heavily acetylated by GCN5 and biologically inactive under conditions of high nutrients. Deacetylated by SIRT1 in
    low nutrients/high NAD conditions1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PPARGC1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_037393.1  
    ENSEMBL proteins: 
     ENSP00000264867   ENSP00000423075   ENSP00000421632   ENSP00000424181  
    Reactome Protein details: Q9UBK2

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    Novus Biologicals PPARGC1A Protein
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for PPARGC1A 

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    Abcam antibodies for PPARGC1A
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    Search eBioscience for ELISAs for PPARGC1A 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RBM: RNA binding motif (RRM) containing

    2 InterPro protein domains:
     IPR012677 Nucleotide-bd_a/b_plait
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry Q9UBK2

    ProtoNet protein and cluster: Q9UBK2

    1 Blocks protein domain: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

    UniProtKB/Swiss-Prot: PRGC1_HUMAN, Q9UBK2
    Similarity: Contains 1 RRM (RNA recognition motif) domain


    Find genes that share domains with PPARGC1A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PRGC1_HUMAN, Q9UBK2
    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
    Induction: Transcription is repressed by ZNF746 which binds to 'insulin response sequences' its promoter

         Gene Ontology (GO): Selected molecular function terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0001104RNA polymerase II transcription cofactor activity TAS14636573
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding TAS10713165
    GO:0003682chromatin binding ----
         
    Find genes that share ontologies with PPARGC1A           About GenesLikeMe


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Ppargc1a):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
     endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  liver/biliary system  mortality/aging 
     muscle  nervous system  respiratory system  tumorigenesis 

    Find genes that share phenotypes with PPARGC1A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for PPARGC1A: Ppargc1atm1Dpk Ppargc1atm1.1Amos Ppargc1atm1Brsp

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PPARGC1A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PPARGC1A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PPARGC1A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PPARGC1A

    miRNA
    Products:
        
    miRTarBase miRNAs that target PPARGC1A:
    hsa-mir-378a-5p (MIRT043961), hsa-mir-335-5p (MIRT017345), hsa-mir-23a-3p (MIRT006280), hsa-mir-425-3p (MIRT042423), hsa-mir-98-5p (MIRT027602), hsa-let-7b-5p (MIRT051970), hsa-mir-421 (MIRT039358)

    Block miRNA regulation of human, mouse, rat PPARGC1A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PPARGC1A (see all 125):
    hsa-miR-124* hsa-miR-411* hsa-miR-26a-2* hsa-miR-193a-3p hsa-miR-3607-3p hsa-miR-485-3p hsa-miR-374a hsa-miR-3653
    SwitchGear 3'UTR luciferase reporter plasmidPPARGC1A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PPARGC1A

    Gene Editing
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    Clone
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    Sino Biological Human cDNA Clone for PPARGC1A
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PPARGC1A
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    Addgene plasmids for PPARGC1A 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPARGC1A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PRGC1_HUMAN, Q9UBK2: Isoform 1: Nucleus. Nucleus, PML body
    PRGC1_HUMAN, Q9UBK2: Isoform B4: Nucleus
    PRGC1_HUMAN, Q9UBK2: Isoform B4-8a: Cytoplasm. Nucleus
    PRGC1_HUMAN, Q9UBK2: Isoform B5: Nucleus. Nucleus, PML body
    PRGC1_HUMAN, Q9UBK2: Isoform 9: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion3
    cytosol2
    peroxisome2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS12588810
    GO:0005654nucleoplasm TAS--
    GO:0005665DNA-directed RNA polymerase II, core complex TAS12588810
    GO:0005829cytosol IEA--
    GO:0016605PML body IEA--

    Find genes that share ontologies with PPARGC1A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PPARGC1A About   (see all 22)  
    See pathways by source

    SuperPathContained pathways About
    1Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    PPARA Activates Gene Expression0.63
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.65
    Transcriptional Regulation of White Adipocyte Differentiation0.38
    2Circadian Repression of Expression by REV-ERBA
    Circadian Repression of Expression by REV-ERBA0.88
    RORA Activates Circadian Expression0.88
    3Circadian Clock
    Circadian Clock0.66
    BMAL1-CLOCK/NPAS2 Activates Circadian Expression0.66
    4Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    5L1CAM interactions
    Developmental Biology0.63


    Find genes that share SuperPaths with PPARGC1A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PPARGC1A
        PGC1Alpha Pathway
    Estrogen Pathway

    1 Cell Signaling Technology (CST) Pathway for PPARGC1A
        Glucose / Energy Metabolism

    1 GeneGo (Thomson Reuters) Pathway for PPARGC1A
        Development Beta-adrenergic receptors signaling via cAMP

    Selected BioSystems Pathways for PPARGC1A (see all 9)
        Mitochondrial Gene Expression
    Adipogenesis
    SIDS Susceptibility Pathways
    SREBF and miR33 in cholesterol and lipid homeostasis
    Energy Metabolism


    Selected Reactome Pathways for PPARGC1A (see all 8)
        Transcriptional regulation of white adipocyte differentiation
    Circadian Clock
    Activation of PPARGC1A (PGC-1alpha) by phosphorylation
    PPARA activates gene expression
    Transcriptional activation of mitochondrial biogenesis

    1 PharmGKB Pathway for PPARGC1A
        Metformin Pathway, Pharmacodynamic

    3 Kegg Pathways  (Kegg details for PPARGC1A):
        Insulin signaling pathway
    Adipocytokine signaling pathway
    Huntington's disease

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PPARGC1A (see all 12): 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat
              Diabetes in human mouse rat
              Adipogenesis in human mouse rat
              Insulin Resistance in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PPARGC1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PPARGC1A (Q9UBK21, 2, 3 ENSP000002648674) via UniProtKB, MINT, STRING, and/or I2D (see all 150)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LRPPRCP427041, 3, ENSP000002606654EBI-765486,EBI-1050853 I2D: score=3 STRING: ENSP00000260665
    ESRRGP625081, 2, 3, ENSP000003861714EBI-765486,EBI-2834260 MINT-6824653 MINT-7297435 MINT-7297297 I2D: score=3 STRING: ENSP00000386171
    PPARGP372312, 3, ENSP000002878204MINT-7229698 MINT-7229685 I2D: score=2 STRING: ENSP00000287820
    ESR2Q927313, ENSP000003439254I2D: score=3 STRING: ENSP00000343925
    SIRT1Q96EB63, ENSP000002120154I2D: score=3 STRING: ENSP00000212015
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 59):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001659temperature homeostasis TAS1258810
    GO:0001666response to hypoxia ----
    GO:0001678cellular glucose homeostasis NAS11854298
    GO:0006012galactose metabolic process IEA--
    GO:0006094gluconeogenesis NAS11854298

    Find genes that share ontologies with PPARGC1A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PPARGC1A (PRGC1)

    Selected Novoseek inferred chemical compound relationships for PPARGC1A gene (see all 37)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pgc1 87.8 16 15864539 (3), 20078951 (3), 20437825 (2), 20096380 (2) (see all 7)
    fatty acid 67 58 19965780 (3), 12777397 (2), 11733490 (2), 19766270 (2) (see all 40)
    aicar 62.8 6 12734114 (1), 15864539 (1), 20044477 (1), 18946175 (1) (see all 5)
    glucose 60.2 100 16314495 (4), 19208857 (4), 19038972 (3), 15592662 (3) (see all 50)
    androstane 53.3 1 12551939 (1)
    acetyl-coa 51.5 5 17030788 (1), 19819719 (1), 16022198 (1)
    carnitine 50.2 8 19448714 (1), 17828388 (1), 15297149 (1), 16538490 (1) (see all 7)
    phosphoenolpyruvate 49.1 4 16323215 (1), 12324453 (1), 19208857 (1), 16267049 (1)
    citrate 48.5 10 19657668 (2), 19927026 (1), 16540710 (1), 15516373 (1) (see all 8)
    pyruvate 48.4 13 17270342 (1), 19448714 (1), 19038972 (1), 15932964 (1) (see all 11)



    Find genes that share compounds with PPARGC1A           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PPARGC1A gene: 
    NM_013261.3  

    Unigene Cluster for PPARGC1A:

    Peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
    Hs.527078  [show with all ESTs]
    Unigene Representative Sequence: NM_013261
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000509702(uc011bxp.1) ENST00000264867(uc003gqs.3 uc003gqt.3 uc010ier.1)
    ENST00000506055 ENST00000513205 ENST00000509642 ENST00000514479 ENST00000508380
    ENST00000512169 ENST00000507342 ENST00000515534 ENST00000503714 ENST00000505469
    ENST00000514517 ENST00000507380(uc003gqu.4) ENST00000514494
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PPARGC1A (see all 125):
    hsa-miR-124* hsa-miR-411* hsa-miR-26a-2* hsa-miR-193a-3p hsa-miR-3607-3p hsa-miR-485-3p hsa-miR-374a hsa-miR-3653
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    Additional mRNA sequence: 

    AB061325.1 AF106698.1 AF159714.1 AF186379.1 AK024990.1 AK095100.1 AK296591.1 AK301883.1 
    AK309261.1 HQ695733.1 JQ772116.1 JQ772117.1 JQ772118.1 JQ772119.1 JQ772120.1 

    8 DOTS entries:

    DT.408302  DT.99936748  DT.92424158  DT.91750753  DT.121224998  DT.95230601  DT.97793374  DT.40121894 

    Selected AceView cDNA sequences (see all 87):

    AI800226 AW299670 CB147181 CB135766 CB146647 AA865326 CB046265 BX115564 
    NM_013261 CB138266 AA188859 BX282397 CB134860 BM976883 AU279925 CB147411 
    AI582569 AF186379 AW827187 CB137722 BM717833 AI431440 AW466942 AA548632 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PPARGC1A (see all 10)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10 ^ 11a · 11b ^ 12 ^
    SP1:                          -     -     -     -     -     -     -                       -     -     -                                         -               
    SP2:                          -     -     -     -     -     -     -                       -     -     -                                                         
    SP3:                                                  -     -     -                       -     -     -                                                         
    SP4:                                                  -     -     -                                   -                                                         
    SP5:                          -     -     -     -     -     -     -                 -     -     -     -                                                         

    ExUns: 13 ^ 14 ^ 15 ^ 16 ^ 17
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for PPARGC1A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PPARGC1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATTGTTGTG
    PPARGC1A Expression
    About this image


    PPARGC1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 20 entries
             Sacral Brown Adipocyte Cells Sacral Brown Adipose Depot
             Interscapular Brown Adipose Depot
             Brown adipocyte-like cells
             Human Mesenchymal Stem Cell-adipose (HMSC-ad)   
     
     Mesenchymal Stem Cells (Uncategorized)
             Human Mesenchymal Stem Cell-adipose (HMSC-ad)   
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Eye (Sensory Organs)
             Mature Rod Cells Outer Nuclear Layer
     
     Oligodendrocytes (Nervous System)
             Oligodendrocyte progenitor cells
    PPARGC1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PPARGC1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.527078

    UniProtKB/Swiss-Prot: PRGC1_HUMAN, Q9UBK2
    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 fasting induced a 2-fold increase in levels in the skeletal muscle in obese subjects

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PPARGC1A (see all 12): 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat
              Diabetes in human mouse rat
              Adipogenesis in human mouse rat
              Insulin Resistance in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPARGC1A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for PPARGC1A gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ppargc1a1 , 5 peroxisome proliferative activated receptor, gamma, more1, 5 92.25(n)1
    94.85(a)1
      5 (27.02 cM)5
    190171  NM_008904.21  NP_032930.11 
     514542495 
    chicken
    (Gallus gallus)
    Aves PPARGC1A1 peroxisome proliferator-activated receptor gamma, coactivator more 86.08(n)
    89.06(a)
      422815  NM_001006457.1  NP_001006457.1 
    lizard
    (Anolis carolinensis)
    Reptilia PPARGC1A6
    peroxisome proliferator-activated receptor gamma, ...
    83(a)
    1 ↔ 1
    5(74113190-74219756)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX771684.12   -- 82.2(n)    BX771684.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ppargc1a6
    peroxisome proliferator-activated receptor gamma, ...
    54(a)
    1 ↔ 1
    7(73134952-73225368) ENSDARG00000067829
    fruit fly
    (Drosophila melanogaster)
    Insecta Spargel6
    Spargel
    13(a)
    1 → many
    3R(248205-255051)


    ENSEMBL Gene Tree for PPARGC1A (if available)
    TreeFam Gene Tree for PPARGC1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PPARGC1A gene
    PPARGC1B2  PPRC12  

    Find genes that share paralogs with PPARGC1A           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for PPARGC1A (see all 2150)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs355896831,2
    C--23143697(+) GAGAC-/AAAAAA 1 -- int10--------
    rs3691128611,2
    C--23144059(+) AAAAA-/TATTTTTT 2 -- int1 cds10--------
    rs58567911,2
    C,F--23151468(+) CTTATC/-CCATT 1 -- int12Minor allele frequency- -:0.11NS 84
    rs58567931,2
    C--23161448(+) AGAAG-/AAAAAA 1 -- int1 trp31Minor allele frequency- A:0.50CSA 2
    rs356950711,2
    C,F--23185224(+) AAAAAA/-TGTAT 1 -- int13Minor allele frequency- -:0.35NS NA 82
    rs342496301,2
    C,F--23186126(+) AAAAGAA/-AAGTT 1 -- int13Minor allele frequency- -:0.13NS CSA 88
    rs3746995491,2
    C--23190633(+) TATAT-/TATAG 
            
    TAGAA
    1 -- int10--------
    rs2001917791,2
    C--23190813(+) TAATC-/ATATAAT 1 -- int10--------
    rs1426010411,2
    C--23191199(+) TATAT-/ACACACA 1 -- int10--------
    rs286962681,2
    C--23191200(+) ATATAC/TACACA 1 -- int10--------

    HapMap Linkage Disequilibrium report for PPARGC1A (23756664 - 23905712 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PPARGC1A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv290453CNV Insertion16902084
    esv269130CNV Insertion20981092

    Human Gene Mutation Database (HGMD): PPARGC1A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PPARGC1A
    DNA2.0 Custom Variant and Variant Library Synthesis for PPARGC1A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 604517    OMIM disorders: --

    6 diseases for PPARGC1A:    
    About MalaCards
    multiple symmetric lipomatosis    lipomatosis    familial partial lipodystrophy    amyotrophic lateral sclerosis
    obesity    breast cancer

    1 disease from the University of Copenhagen DISEASES database for PPARGC1A:
    Diabetes mellitus

    Find genes that share disorders with PPARGC1A           About GenesLikeMe

    Selected Novoseek inferred disease relationships for PPARGC1A gene (see all 27)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    insulin resistance 63.1 47 16403952 (4), 19966034 (4), 20410232 (2), 19208857 (2) (see all 23)
    insulin sensitivity 62 23 17327385 (3), 16403952 (3), 17828388 (2), 19208857 (2) (see all 13)
    obesity 52.6 38 19913841 (3), 18349111 (2), 19056573 (2), 11916956 (2) (see all 20)
    metabolic disorder 49.2 3 19038972 (1), 17907962 (1)
    niddm 42.9 23 15937669 (2), 17479445 (2), 16978372 (2), 11793024 (2) (see all 11)
    impaired glucose tolerance 30.8 5 15592662 (3), 16804087 (1), 19966034 (1)
    hyperglycemia 18.1 1 20078951 (1)
    hypertrophy 17.5 2 17579564 (1), 20010125 (1)
    cardiac hypertrophy 15.1 5 17579564 (2), 11985547 (1), 15649578 (1)
    response acute phase 11.6 2 18510493 (1), 17224343 (1)

    Genetic Association Database (GAD): PPARGC1A
    Human Genome Epidemiology (HuGE) Navigator: PPARGC1A (123 documents)

    Export disorders for PPARGC1A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for PPARGC1A gene, integrated from 10 sources (see all 616):
    (articles sorted by number of sources associating them with PPARGC1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human peroxisome proliferator activated receptor gamma coactivator 1 (PPARGC1) gene: cDNA sequence, genomic organization, chromosomal localization, and tissue expression. (PubMed id 10585775)1, 2, 3, 9 Esterbauer H.... Patsch W. (Genomics 1999)
    2. Epigenetic regulation of PPARGC1A in human type 2 diabetic islets and effect on insulin secretion. (PubMed id 18270681)1, 4, 9 Ling C....Del Prato S. (Diabetologia 2008)
    3. PPARGC1A variation associated with DNA damage, diabetes, and cardiovascular diseases: the Boston Puerto Rican Health Study. (PubMed id 18162502)1, 4, 9 Lai C.Q....OrdovA!s J.M. (Diabetes 2008)
    4. The peroxisome proliferator-activated receptor gamma coactivator-1 alpha gene (PGC-1alpha) is not associated with type 2 diabetes mellitus or body mass index among Hispanic and non Hispanic Whites from Colorado. (PubMed id 17479445)1, 4, 9 Nelson T.L....Norris J.M. (amp 2007)
    5. Evaluation of the association between the PPARGC1A genetic polymorphisms and type 2 diabetes in Han Chinese population. (PubMed id 19828207)1, 4, 9 Zhu S....Liu Y. (Diabetes Res. Clin. Pract. 2009)
    6. Association between peroxisome proliferator-activated receptor-gamma coactivator-1alpha gene polymorphisms and type 2 diabetes in southern Chinese population: role of altered interaction with myocyte enhancer factor 2C. (PubMed id 18067759)1, 4, 9 Zhang S.L....Cheng H. (Chin. Med. J. 2007)
    7. Cloning and mRNA tissue distribution of human PPARgamma coactivator- 1. (PubMed id 10643692)1, 2, 9 Larrouy D.... Langin D. (Int. J. Obes. Relat. Metab. Disord. 1999)
    8. Peroxisome proliferator-activated receptor gamma coactivator 1 alpha promoter polymorphisms are associated with early-onset type 2 diabetes mellitus in the Korean population. (PubMed id 15937669)1, 4, 9 Kim J.H....Park K.S. (Diabetologia 2005)
    9. Association of the PPARGC1A gene polymorphism with diabetic nephropathy in an Asian Indian population (CURES-41). (PubMed id 19900151)1, 4, 9 Gayathri S.B....Mohan V. (Metab Syndr Relat Disord 2010)
    10. Polymorphisms of the peroxisome proliferator-activated receptor-gamma coactivator-1alpha gene are associated with hypertrophic cardiomyopathy and not with hypertension hypertrophy. (PubMed id 17579564)1, 4, 9 Wang S....Hui R. (Clin. Chem. Lab. Med. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10891 HGNC: 9237 AceView: PPARGC1A Ensembl:ENSG00000109819 euGenes: HUgn10891
    ECgene: PPARGC1A Kegg: 10891 H-InvDB: PPARGC1A

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PPARGC1A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PPARGC1A Genetics and Cytogenetics in Oncology and Haematology
    SeattleSNPshttp://pga.gs.washington.edu/data/ppargc1a/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for PPARGC1A gene:
    Search GeneIP for patents involving PPARGC1A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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