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    PPARGC1B PPARG coactivator 1 beta [ Homo sapiens (human) ]

    Gene ID: 133522, updated on 14-Nov-2024

    Summary

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    Official Symbol
    PPARGC1Bprovided by HGNC
    Official Full Name
    PPARG coactivator 1 betaprovided by HGNC
    Primary source
    HGNC:HGNC:30022
    See related
    Ensembl:ENSG00000155846 MIM:608886; AllianceGenome:HGNC:30022
    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
    PERC; ERRL1; PGC1B; PGC-1(beta)
    Summary
    The protein encoded by this gene stimulates the activity of several transcription factors and nuclear receptors, including estrogen receptor alpha, nuclear respiratory factor 1, and glucocorticoid receptor. The encoded protein may be involved in fat oxidation, non-oxidative glucose metabolism, and the regulation of energy expenditure. This protein is downregulated in prediabetic and type 2 diabetes mellitus patients. Certain allelic variations in this gene increase the risk of the development of obesity. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
    Expression
    Ubiquitous expression in duodenum (RPKM 2.8), small intestine (RPKM 2.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PPARGC1B in Genome Data Viewer
    Location:
    5q32
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (149730310..149857959)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (150266870..150394600)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (149109873..149234585)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378224 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:149092310-149092945 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:149095860-149096110 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:149109472-149110122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23386 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16500 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16501 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16502 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16503 Neighboring gene RNA, 7SL, cytoplasmic 868, pseudogene Neighboring gene microRNA 378a Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149138890-149139607 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149143045-149143915 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149152433-149153272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23387 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23389 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149183799-149184608 Neighboring gene NFE2L2 motif-containing MPRA enhancer 202 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:149195389 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149198738-149199254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23391 Neighboring gene phosphodiesterase 6A Neighboring gene Sharpr-MPRA regulatory region 12732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149318171-149318672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149318673-149319172 Neighboring gene Sharpr-MPRA regulatory region 12514 Neighboring gene MFF pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr5:149338737-149339340 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16504 Neighboring gene solute carrier family 26 member 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human Genetic Variation at rs10071329 Correlates With Adiposity-Related Traits, Modulates PPARGC1B Expression, and Alters Brown Adipocyte Function.
      Title: Human Genetic Variation at rs10071329 Correlates With Adiposity-Related Traits, Modulates PPARGC1B Expression, and Alters Brown Adipocyte Function.
    2. HLA-DQA1*05 and upstream variants of PPARGC1B are associated with infliximab persistence in Japanese Crohn's disease patients.
      Title: HLA-DQA1*05 and upstream variants of PPARGC1B are associated with infliximab persistence in Japanese Crohn's disease patients.
    3. Pulling rank with RNA: RANKL promotes the association of PGC-1beta/RNA complexes with NCoR/HDAC3 to activate gene expression in osteoclasts.
      Title: Pulling rank with RNA: RANKL promotes the association of PGC-1β/RNA complexes with NCoR/HDAC3 to activate gene expression in osteoclasts.
    4. LMP1 mediates tumorigenesis through persistent epigenetic modifications and PGC1beta upregulation.
      Title: LMP1 mediates tumorigenesis through persistent epigenetic modifications and PGC1β upregulation.
    5. Association between PPARgamma, PPARGC1A, and PPARGC1B genetic variants and susceptibility of gastric cancer in an Eastern Chinese population.
      Title: Association between PPARγ, PPARGC1A, and PPARGC1B genetic variants and susceptibility of gastric cancer in an Eastern Chinese population.
    6. Analysis of Metabolic Regulators PGC1-alpha and PGC1-beta in Oral Squamous Cell Carcinoma with and without Hyperglycemia.
      Title: Analysis of Metabolic Regulators PGC1-α and PGC1-β in Oral Squamous Cell Carcinoma with and without Hyperglycemia.
    7. Low expression of PGC-1beta and other mitochondrial biogenesis modulators in melanoma is associated with growth arrest and the induction of an immunosuppressive gene expression program dependent on MEK and IRF-1.
      Title: Low expression of PGC-1β and other mitochondrial biogenesis modulators in melanoma is associated with growth arrest and the induction of an immunosuppressive gene expression program dependent on MEK and IRF-1.
    8. PGC1alpha/beta Expression Predicts Therapeutic Response to Oxidative Phosphorylation Inhibition in Ovarian Cancer.
      Title: PGC1α/β Expression Predicts Therapeutic Response to Oxidative Phosphorylation Inhibition in Ovarian Cancer.
    9. UBQLN1 mediates sorafenib resistance through regulating mitochondrial biogenesis and ROS homeostasis by targeting PGC1beta in hepatocellular carcinoma.
      Title: UBQLN1 mediates sorafenib resistance through regulating mitochondrial biogenesis and ROS homeostasis by targeting PGC1β in hepatocellular carcinoma.
    10. Decreased PGC1beta expression results in disrupted human erythroid differentiation, impaired hemoglobinization and cell cycle exit.
      Title: Decreased PGC1β expression results in disrupted human erythroid differentiation, impaired hemoglobinization and cell cycle exit.
    Submit: New GeneRIF Correction See all GeneRIFs (77)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate.
    EBI GWAS Catalog
    Genome-wide association study of tanning phenotype in a population of European ancestry.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See Variation Viewer (GRCh37.p13)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14284, DKFZp686C1790

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables AF-2 domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables RNA binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables nuclear estrogen receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nuclear receptor coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nuclear receptor coactivator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription coregulator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin filament organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in bone trabecula formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to reactive oxygen species IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in energy homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in estrogen receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of bone resorption 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 osteoclast differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of phosphorylation 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
    		  
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    part_of mediator complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    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
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    peroxisome proliferator-activated receptor gamma coactivator 1-beta
    Names
    PGC-1-related estrogen receptor alpha coactivator
    PPAR-gamma coactivator 1-beta
    PPARAGCIbeta
    PPARGC-1-beta
    PPARgamma coactivator 1 beta
    peroxisome proliferator-activated receptor gamma, coactivator 1 beta

    NCBI Reference Sequences (RefSeq)

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    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_016747.2 RefSeqGene

      Range
      5002..129714
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001172698.2 → NP_001166169.1  peroxisome proliferator-activated receptor gamma coactivator 1-beta isoform 2

      See identical proteins and their annotated locations for NP_001166169.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AC008545, BC132971, BC144251, CA435617
      Consensus CDS
      CCDS54933.1
      UniProtKB/TrEMBL
      B7ZM40
      Related
      ENSP00000353638.4, ENST00000360453.8
      Conserved Domains (1) summary
      cd12356
      Location:861 → 940
      RRM_PPARGC1B; RNA recognition motif in peroxisome proliferator-activated receptor gamma coactivator 1-beta (PGC-1-beta) and similar proteins

    2. NM_001172699.2 → NP_001166170.1  peroxisome proliferator-activated receptor gamma coactivator 1-beta isoform 3

      See identical proteins and their annotated locations for NP_001166170.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents use of an alternate promoter and 5' UTR, uses a distinct start codon, and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus and lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AC008545, AK123614, CA435617
      Consensus CDS
      CCDS54934.1
      UniProtKB/TrEMBL
      B7ZM40
      Related
      ENSP00000384403.1, ENST00000403750.5
      Conserved Domains (1) summary
      cd12356
      Location:836 → 915
      RRM_PPARGC1B; RNA recognition motif in peroxisome proliferator-activated receptor gamma coactivator 1-beta (PGC-1-beta) and similar proteins

    3. NM_133263.4 → NP_573570.3  peroxisome proliferator-activated receptor gamma coactivator 1-beta isoform 1

      See identical proteins and their annotated locations for NP_573570.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC008545, BC132971, CA435617
      Consensus CDS
      CCDS4298.1
      UniProtKB/Swiss-Prot
      A2RUM8, A2RUN0, B3KVW0, Q86YN3, Q86YN4, Q86YN5, Q86YN6, Q8N1N9, Q8TDE4, Q8TDE5
      UniProtKB/TrEMBL
      B7ZM40
      Related
      ENSP00000312649.5, ENST00000309241.10
      Conserved Domains (1) summary
      cd12356
      Location:900 → 979
      RRM_PPARGC1B; RNA recognition motif in peroxisome proliferator-activated receptor gamma coactivator 1-beta (PGC-1-beta) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      149730310..149857959
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537553.3 → XP_011535855.1  peroxisome proliferator-activated receptor gamma coactivator 1-beta isoform X1

      UniProtKB/TrEMBL
      B7ZM40
      Related
      ENSP00000377855.3, ENST00000394320.7
      Conserved Domains (1) summary
      cd12356
      Location:900 → 979
      RRM_PPARGC1B; RNA recognition motif in peroxisome proliferator-activated receptor gamma coactivator 1-beta (PGC-1-beta) and similar proteins

    2. XM_011537555.3 → XP_011535857.1  peroxisome proliferator-activated receptor gamma coactivator 1-beta isoform X3

      UniProtKB/TrEMBL
      B7ZM40
      Conserved Domains (1) summary
      cd12356
      Location:861 → 940
      RRM_PPARGC1B; RNA recognition motif in peroxisome proliferator-activated receptor gamma coactivator 1-beta (PGC-1-beta) and similar proteins

    3. XM_011537557.2 → XP_011535859.1  peroxisome proliferator-activated receptor gamma coactivator 1-beta isoform X5

    4. XM_011537554.3 → XP_011535856.1  peroxisome proliferator-activated receptor gamma coactivator 1-beta isoform X2

      UniProtKB/TrEMBL
      B7ZM40
      Conserved Domains (1) summary
      cd12356
      Location:879 → 958
      RRM_PPARGC1B; RNA recognition motif in peroxisome proliferator-activated receptor gamma coactivator 1-beta (PGC-1-beta) and similar proteins

    5. XM_005268372.4 → XP_005268429.1  peroxisome proliferator-activated receptor gamma coactivator 1-beta isoform X4

      UniProtKB/TrEMBL
      B7ZM40
      Conserved Domains (1) summary
      cd12356
      Location:879 → 958
      RRM_PPARGC1B; RNA recognition motif in peroxisome proliferator-activated receptor gamma coactivator 1-beta (PGC-1-beta) and similar proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      150266870..150394600
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351585.1 → XP_054207560.1  peroxisome proliferator-activated receptor gamma coactivator 1-beta isoform X1

    2. XM_054351587.1 → XP_054207562.1  peroxisome proliferator-activated receptor gamma coactivator 1-beta isoform X3

    3. XM_054351589.1 → XP_054207564.1  peroxisome proliferator-activated receptor gamma coactivator 1-beta isoform X5

    4. XM_054351586.1 → XP_054207561.1  peroxisome proliferator-activated receptor gamma coactivator 1-beta isoform X2

    5. XM_054351588.1 → XP_054207563.1  peroxisome proliferator-activated receptor gamma coactivator 1-beta isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86YN6.2 GenPept UniProtKB/Swiss-Prot:Q86YN6

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