Format

Send to:

Choose Destination
    • Showing Current items.

    PPARGC1A PPARG coactivator 1 alpha [ Homo sapiens (human) ]

    Gene ID: 10891, updated on 25-Nov-2021

    Summary

    Official Symbol
    PPARGC1Aprovided by HGNC
    Official Full Name
    PPARG coactivator 1 alphaprovided by HGNC
    Primary source
    HGNC:HGNC:9237
    See related
    Ensembl:ENSG00000109819 MIM:604517
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LEM6; PGC1; PGC1A; PGC-1v; PPARGC1; PGC-1alpha; PGC-1(alpha)
    Summary
    The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This 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]
    Expression
    Broad expression in kidney (RPKM 8.0), liver (RPKM 6.2) and 15 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PPARGC1A in Genome Data Viewer
    Location:
    4p15.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (23792021..24472905, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (23793644..24474528, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374528 Neighboring gene uncharacterized LOC105374527 Neighboring gene VISTA enhancer hs2346 Neighboring gene Sharpr-MPRA regulatory region 10171 Neighboring gene microRNA 573 Neighboring gene DEAH-box helicase 15 Neighboring gene RNA, 7SL, cytoplasmic 16, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    GeneReviews: Not available
    Genome-wide association study (GWAS) for molar-incisor hypomineralization (MIH).
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A) in primary human brain microvascular endothelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables DNA-binding transcription factor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables RNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables chromatin DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables nuclear receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables nuclear receptor coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables nuclear receptor coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables signaling receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription coregulator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables transcription factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in adipose tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in brown fat cell differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular glucose homeostasis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cellular respiration TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to oxidative stress ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in circadian regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in digestion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in energy homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in fatty acid oxidation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in gluconeogenesis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in mRNA processing TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in mitochondrion organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of neuron apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of neuron death IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of negative regulation of smooth muscle cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of ATP biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of DNA-binding transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cellular respiration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of fatty acid oxidation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gluconeogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of histone acetylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of mitochondrial DNA metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of mitochondrion organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein stabilization TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in protein-containing complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of circadian rhythm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in respiratory electron transport chain ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to dietary excess IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to muscle activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to starvation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in temperature homeostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in transcription initiation from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in PML body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in chromatin IC
    Inferred by Curator
    more info
    PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    peroxisome proliferator-activated receptor gamma coactivator 1-alpha
    Names
    L-PGC-1alpha
    PGC-1-alpha
    PPAR gamma coactivator variant form
    PPARGC-1-alpha
    PPARgamma coactivator 1alpha
    ligand effect modulator-6
    peroxisome proliferator-activated receptor gamma coactivator 1 alpha transcript variant B4-3ext
    peroxisome proliferator-activated receptor gamma coactivator 1 alpha transcript variant B4-8a
    peroxisome proliferator-activated receptor gamma coactivator 1 alpha transcript variant B5-NT

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028250.2 RefSeqGene

      Range
      587929..685955
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001330751.2NP_001317680.1  peroxisome proliferator-activated receptor gamma coactivator 1-alpha isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), as well as variant 5, encodes the longest isoform (1).
      Source sequence(s)
      AC092834, AC115110, AF186379, BM976883, JQ772116, JQ772117
      UniProtKB/Swiss-Prot
      Q9UBK2
      Conserved Domains (3) summary
      cd12623
      Location:680770
      RRM_PPARGC1A; RNA recognition motif in peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1alpha, or PPARGC-1-alpha) and similar proteins
      pfam09756
      Location:643680
      DDRGK; DDRGK domain
      pfam14621
      Location:257384
      RFX5_DNA_bdg; RFX5 DNA-binding domain
    2. NM_001330752.2NP_001317681.1  peroxisome proliferator-activated receptor gamma coactivator 1-alpha isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR and contains an alternate exon in its 5' coding region. This variant represents translation initiation at an alternate start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the alternate start codon to encode an isoform (3) that has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC092834, AC115110, AF186379, BM976883, JQ772116
      UniProtKB/Swiss-Prot
      Q9UBK2
    3. NM_001330753.2NP_001317682.1  peroxisome proliferator-activated receptor gamma coactivator 1-alpha isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus than isoform 1. Variants 4 and 6 both encode the same isoform (4).
      Source sequence(s)
      AC092834, AF186379, BM976883, HQ695733
      Consensus CDS
      CCDS87211.1
      UniProtKB/Swiss-Prot
      Q9UBK2
      Related
      ENSP00000481498.1, ENST00000613098.4
      Conserved Domains (3) summary
      pfam09756
      Location:511548
      DDRGK; DDRGK domain
      pfam14621
      Location:125252
      RFX5_DNA_bdg; RFX5 DNA-binding domain
      cl17169
      Location:548638
      RRM_SF; RNA recognition motif (RRM) superfamily
    4. NM_001354825.2NP_001341754.1  peroxisome proliferator-activated receptor gamma coactivator 1-alpha isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variant 1, encodes isoform 1.
      Source sequence(s)
      AC006229, AC092834, AC115110
      Conserved Domains (3) summary
      cd12623
      Location:680770
      RRM_PPARGC1A; RNA recognition motif in peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1alpha, or PPARGC-1-alpha) and similar proteins
      pfam09756
      Location:643680
      DDRGK; DDRGK domain
      pfam14621
      Location:257384
      RFX5_DNA_bdg; RFX5 DNA-binding domain
    5. NM_001354826.2NP_001341755.1  peroxisome proliferator-activated receptor gamma coactivator 1-alpha isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variant 4, encodes isoform 4.
      Source sequence(s)
      AC092834, AC092846, AC115110
      Consensus CDS
      CCDS87211.1
      Conserved Domains (3) summary
      pfam09756
      Location:511548
      DDRGK; DDRGK domain
      pfam14621
      Location:125252
      RFX5_DNA_bdg; RFX5 DNA-binding domain
      cl17169
      Location:548638
      RRM_SF; RNA recognition motif (RRM) superfamily
    6. NM_001354827.2NP_001341756.1  peroxisome proliferator-activated receptor gamma coactivator 1-alpha isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC006229, AC092834, AC115110
      Conserved Domains (3) summary
      pfam09756
      Location:643680
      DDRGK; DDRGK domain
      pfam14621
      Location:257384
      RFX5_DNA_bdg; RFX5 DNA-binding domain
      cl17169
      Location:680768
      RRM_SF; RNA recognition motif (RRM) superfamily
    7. NM_001354828.2NP_001341757.1  peroxisome proliferator-activated receptor gamma coactivator 1-alpha isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC092834, BX282397
      Consensus CDS
      CCDS87212.1
      Related
      ENSP00000424181.1, ENST00000507380.1
    8. NM_013261.5NP_037393.1  peroxisome proliferator-activated receptor gamma coactivator 1-alpha isoform 2

      See identical proteins and their annotated locations for NP_037393.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC092834, AF106698, AF186379, BM976883
      Consensus CDS
      CCDS3429.1
      UniProtKB/Swiss-Prot
      Q9UBK2
      UniProtKB/TrEMBL
      A0A024R9Q9
      Related
      ENSP00000264867.2, ENST00000264867.7
      Conserved Domains (2) summary
      PHA03420
      Location:200295
      PHA03420; E4 protein; Provisional
      cd12623
      Location:675765
      RRM_PPARGC1A; RNA recognition motif in peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1alpha, or PPARGC-1-alpha) and similar proteins

    RNA

    1. NR_148981.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092834, AC092846, AC115110
    2. NR_148982.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC006229, AC092834, AC115110
    3. NR_148983.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092834, AC092846, AC115110
    4. NR_148984.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092834
    5. NR_148985.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092834, AC115110, JQ772118
    6. NR_148986.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092834, AC115110, JQ772119
    7. NR_148987.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092834, AC115110, JQ772120

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      23792021..24472905 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453878.1XP_024309646.1  peroxisome proliferator-activated receptor gamma coactivator 1-alpha isoform X1

      Conserved Domains (3) summary
      cd12623
      Location:680770
      RRM_PPARGC1A; RNA recognition motif in peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1alpha, or PPARGC-1-alpha) and similar proteins
      pfam09756
      Location:643680
      DDRGK; DDRGK domain
      pfam14621
      Location:257384
      RFX5_DNA_bdg; RFX5 DNA-binding domain
    2. XM_005248134.4XP_005248191.1  peroxisome proliferator-activated receptor gamma coactivator 1-alpha isoform X5

      Conserved Domains (1) summary
      pfam12848
      Location:642677
      ABC_tran_Xtn; ABC transporter
    3. XM_005248132.1XP_005248189.1  peroxisome proliferator-activated receptor gamma coactivator 1-alpha isoform X3

      Conserved Domains (2) summary
      PHA03420
      Location:197292
      PHA03420; E4 protein; Provisional
      cd12623
      Location:672762
      RRM_PPARGC1A; RNA recognition motif in peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1alpha, or PPARGC-1-alpha) and similar proteins
    4. XM_011513766.1XP_011512068.1  peroxisome proliferator-activated receptor gamma coactivator 1-alpha isoform X4

      See identical proteins and their annotated locations for XP_011512068.1

      Conserved Domains (1) summary
      cd12623
      Location:640730
      RRM_PPARGC1A; RNA recognition motif in peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1alpha, or PPARGC-1-alpha) and similar proteins
    5. XM_005248131.5XP_005248188.1  peroxisome proliferator-activated receptor gamma coactivator 1-alpha isoform X2

      Conserved Domains (2) summary
      PHA03420
      Location:204299
      PHA03420; E4 protein; Provisional
      cd12623
      Location:679769
      RRM_PPARGC1A; RNA recognition motif in peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1alpha, or PPARGC-1-alpha) and similar proteins
    6. XM_011513768.1XP_011512070.1  peroxisome proliferator-activated receptor gamma coactivator 1-alpha isoform X4

      See identical proteins and their annotated locations for XP_011512070.1

      Conserved Domains (1) summary
      cd12623
      Location:640730
      RRM_PPARGC1A; RNA recognition motif in peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1alpha, or PPARGC-1-alpha) and similar proteins
    7. XM_011513771.1XP_011512073.1  peroxisome proliferator-activated receptor gamma coactivator 1-alpha isoform X7

      See identical proteins and their annotated locations for XP_011512073.1

      UniProtKB/Swiss-Prot
      Q9UBK2
      Conserved Domains (3) summary
      pfam09756
      Location:511548
      DDRGK; DDRGK domain
      pfam14621
      Location:125252
      RFX5_DNA_bdg; RFX5 DNA-binding domain
      cl17169
      Location:548638
      RRM_SF; RNA recognition motif (RRM) superfamily
    8. XM_011513769.2XP_011512071.1  peroxisome proliferator-activated receptor gamma coactivator 1-alpha isoform X6

      Conserved Domains (1) summary
      pfam14621
      Location:257384
      RFX5_DNA_bdg; RFX5 DNA-binding domain
    Support Center