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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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   

Export aliases for PPARGC1A gene to outside databases

Previous GC identifers: GC04M023544 GC04M023469 GC04M023138


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 multiple symmetrical lipomatosis, and among its related super-pathways are Axon guidance and GPCR Pathway. 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

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_006316.16  NC_018915.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PPARGC1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Nucleus. Nucleus, PML body (By similarity)
6/7 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: Q4W5M7 Q9UN32

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

Explore proteomics data for PPARGC1A at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation by AMPK in skeletal muscle increases activation of its own promoter (By similarity).
    Phosphorylated by CLK2 (By similarity)
  • UniProtKB: Heavily acetylated by GCN5 and biologically inactive under conditions of high nutrients. Deacetylated by SIRT1 in
    low nutrients/high NAD conditions
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UBK2

  • PPARGC1A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PPARGC1A Protein Expression
    REFSEQ proteins: NP_037393.1  
    ENSEMBL proteins: 
     ENSP00000264867   ENSP00000423075   ENSP00000421632   ENSP00000424181  
    Reactome Protein details: Q9UBK2
    Human Recombinant Protein Products for PPARGC1A: 
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    Novus Biologicals PPARGC1A Protein
    Novus Biologicals PPARGC1A Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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--

    PPARGC1A for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    PPARGC1A for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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
    Induction: Transcription is repressed by ZNF746 which binds to 'insulin response sequences' its promoter

         Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12):    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:0003713transcription coactivator activity IDA19651776
         
    PPARGC1A for ontologies           About GeneDecksing


    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  homeostasis/metabolism  liver/biliary system  mortality/aging 
     muscle  nervous system  respiratory system  tumorigenesis 

    PPARGC1A for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PPARGC1A 
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       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 

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    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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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPARGC1A


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PPARGC1A About   (see all 20)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Axon guidance
    Developmental Biology0.69
    2GPCR Pathway
    Estrogen Pathway0.55
    3PEDF Induced Signaling
    PGC1Alpha Pathway0.51
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Huntington's disease0.47
    5Circadian Clock
    Circadian Clock0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for PPARGC1A
        Development Beta-adrenergic receptors signaling via cAMP

    2 Downloadable PowerPoint Slides of QIAGEN 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

    5/9 BioSystems Pathways for PPARGC1A (see all 9)
        Mitochondrial Gene Expression
    Adipogenesis
    SIDS Susceptibility Pathways
    SREBF and miR33 in cholesterol and lipid homeostasis
    Energy Metabolism


    3        Reactome Pathways for PPARGC1A
        Circadian Clock
    Developmental Biology
    Transcriptional Regulation of White Adipocyte Differentiation

    1 PharmGKB Pathway for PPARGC1A
        Metformin Pathway, Pharmacodynamic

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


    PPARGC1A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PPARGC1A

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

    5/144 Interacting proteins for PPARGC1A (Q9UBK21, 2, 3 ENSP000002648674) via UniProtKB, MINT, STRING, and/or I2D (see all 144)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LRPPRCP427041, 3, ENSP000002606654EBI-765486,EBI-1050853 I2D: score=3 STRING: ENSP00000260665
    ESRRGP625082, 3, ENSP000003861714MINT-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): 5/36 biological process terms (GO ID links to tree view) (see all 36):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001659temperature homeostasis TAS1258810
    GO:0001666response to hypoxia IEA--
    GO:0001678cellular glucose homeostasis NAS11854298
    GO:0006094gluconeogenesis NAS11854298
    GO:0006367transcription initiation from RNA polymerase II promoter TAS14636573

    PPARGC1A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PPARGC1A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PPARGC1A (PRGC1)

    10/37 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)

    Search CenterWatch for drugs/clinical trials and news about PPARGC1A / PRGC1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    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

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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 

    24/87 AceView cDNA sequences (see all 87):

    AU279925 CB138266 BX282397 AW299670 NM_013261 CB135766 AF186379 CB147411 
    AI431440 CB046265 CB137722 AA188859 CB147181 AI582569 AW827187 BM976883 
    BX115564 BM717833 CB134860 CB146647 AW466942 AI800226 AA865326 AI741530 

    GeneLoc Exon Structure

    5/10 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PPARGC1A expression in normal human tissues (normalized intensities)      PPARGC1A embryonic expression: see
    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 
     5/12 selected tissues (see all 12) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 17 entries
             Sacral Brown Adipocyte Cells Sacral Brown Adipose Depot
             Interscapular Brown Adipose Depot
             Brown adipocyte-like cells ( Generation of adipocytes from human pluripotent stem...
             Human Mesenchymal Stem Cell-adipose (HMSC-ad)   
     
     Tooth (Integumentary System)    fully expand to see all 2 entries
             visceral organ/oral region/upper jaw   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Eye (Sensory Organs)
             Mature Rod Cells Outer Nuclear Layer

    See PPARGC1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PPARGC1A

    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

        SABiosciences Expression via Pathway-Focused 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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    (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

    This gene was present in the common ancestor of animals.

    Orthologs for PPARGC1A gene from 6/12 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
    Uncharacterized protein
    84(a)
    1 ↔ 1
    5(74113190-74219756)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX771684.12   -- 82.2(n)    BX771684.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ppargc1a1 peroxisome proliferator-activated receptor gamma, coactivator more 62.16(n)
    60.31(a)
      553418  XM_002667531.2  XP_002667577.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Spargel6
    Spargel
    11(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)
    About This Section
    Paralogs for PPARGC1A gene
    PPARGC1B2  PPRC12  
    1 SIMAP similar gene for PPARGC1A using alignment to 9 protein entries:     PRGC1_HUMAN (see all proteins):
    PGC-1v

    PPARGC1A for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2150 SNPs in PPARGC1A are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604517    OMIM disorders: --

    20/64 diseases for PPARGC1A (see all 64):    About MalaCards
    multiple symmetric lipomatosis    multiple symmetrical lipomatosis    lipomatosis    familial partial lipodystrophy
    obesity    cholelithiasis    friedreich ataxia    lipodystrophy
    fatty liver disease    insulin resistance    obesity, association with    gestational diabetes
    brain disease    glucose intolerance    familial breast cancer    morbid obesity
    hyperglycemia    hypertrophic cardiomyopathy    sporadic breast cancer    polycystic ovary syndrome

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

    PPARGC1A for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/27 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

    PubMed articles for PPARGC1A gene, integrated from 9 sources (see all 604):
    (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. (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. (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....Ordovas J.M. (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. (2007)
    5. Evaluation of the association between the PPARGC1A ge netic polymorphisms and type 2 diabetes in Han Chinese population. (PubMed id 19828207)1, 4, 9 Zhu S....Liu Y. (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. (2007)
    7. Cloning and mRNA tissue distribution of human PPARgamma coactivator- 1. (PubMed id 10643692)1, 2, 9 Larrouy D.... Langin D. (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. (2005)
    9. Association of the PPARGC1A gene polymorphism with di abetic nephropathy in an Asian Indian population (CURES-41). (PubMed id 19900151)1, 4, 9 Gayathri S.B....Mohan V. (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. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 10891 HGNC: 9237 AceView: PPARGC1A Ensembl:ENSG00000109819 euGenes: HUgn10891
    ECgene: PPARGC1A Kegg: 10891 H-InvDB: PPARGC1A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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