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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
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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 PPARÎł, 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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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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Gene LinkOut

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