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

Gene ID: 133522, updated on 26-May-2016
Official Symbol
PPARGC1Bprovided by HGNC
Official Full Name
PPARG coactivator 1 betaprovided by HGNC
Primary source
HGNC:HGNC:30022
See related
Ensembl:ENSG00000155846 HPRD:10594; MIM:608886; Vega:OTTHUMG00000130055
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]
Orthologs
Location:
5q32
Exon count:
16
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (149730252..149857874)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (149109815..149234585)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Rho guanine nucleotide exchange factor 37 Neighboring gene uncharacterized LOC105378224 Neighboring gene microRNA 378a Neighboring gene phosphodiesterase 6A Neighboring gene mitochondrial fission factor pseudogene Neighboring gene solute carrier family 26 member 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Obesity
MedGen: C0028754 OMIM: 601665 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate.
NHGRI GWA Catalog
Genome-wide association study of tanning phenotype in a population of European ancestry.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
  • AMPK signaling, organism-specific biosystem (from WikiPathways)
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  • Energy Metabolism, organism-specific biosystem (from WikiPathways)
    Energy Metabolism, organism-specific biosystemThe PPARGC1A protein is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with the nuclear receptor PPARG, which permits the interaction of ...
  • Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
    Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
  • Insulin resistance, organism-specific biosystem (from KEGG)
    Insulin resistance, organism-specific biosystemInsulin resistance is a condition where cells become resistant to the effects of insulin. It is often found in people with health disorders, including obesity, type 2 diabetes mellitus, non-alcoholic...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
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  • Mitochondrial Gene Expression, organism-specific biosystem (from WikiPathways)
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  • Mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
    Mitochondrial biogenesis, organism-specific biosystemMitochondrial biogenesis and remodeling occur in response to exercise and redox state (reviewed in Scarpulla et al. 2012, Handy and Loscalzo 2012, Piantadosi and Suliman 2012, Scarpulla 2011, Wenz et...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • PPARA activates gene expression, organism-specific biosystem (from REACTOME)
    PPARA activates gene expression, organism-specific biosystemThe set of genes regulated by PPAR-alpha is not fully known in humans, however many examples have been found in mice. Genes directly activated by PPAR-alpha contain peroxisome proliferator receptor e...
  • Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystem (from REACTOME)
    Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystemPeroxisome proliferator-activated receptor alpha (PPAR-alpha) is the major regulator of fatty acid oxidation in the liver. PPARalpha is also the target of fibrate drugs used to treat abnormal plasma ...
  • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
  • SREBP signalling, organism-specific biosystem (from WikiPathways)
    SREBP signalling, organism-specific biosystemSterol regulatory element-binding proteins (SREBPs) are membrane-bound proteins that act as transcription factors. They regulate lipid, especially cholesterol, biosynthesis and uptake at a transcript...
  • Transcriptional activation of mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
    Transcriptional activation of mitochondrial biogenesis, organism-specific biosystemPhosphorylated PPARGC1A (PGC-1alpha) does not bind DNA directly but instead interacts with other transcription factors, notably NRF1 and NRF2 (via HCF1). NRF1 and NRF2 together with PPARGC1A activate...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ14284, DKFZp686C1790

Gene Ontology Provided by GOA

Function Evidence Code Pubs
AF-2 domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
RNA binding NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II transcription cofactor activity IDA
Inferred from Direct Assay
more info
PubMed 
estrogen receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
ligand-dependent nuclear receptor transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
receptor activator activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
actin filament organization IEA
Inferred from Electronic Annotation
more info
 
bone trabecula formation IEA
Inferred from Electronic Annotation
more info
 
cellular response to reactive oxygen species IEA
Inferred from Electronic Annotation
more info
 
intracellular estrogen receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion organization TAS
Traceable Author Statement
more info
 
negative regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
ossification IEA
Inferred from Electronic Annotation
more info
 
positive regulation of alkaline phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of bone resorption IEA
Inferred from Electronic Annotation
more info
 
positive regulation of osteoclast differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of receptor activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of sequence-specific DNA binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
response to cAMP IEA
Inferred from Electronic Annotation
more info
 
response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
transcription from mitochondrial promoter IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mediator complex IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
peroxisome proliferator-activated receptor gamma coactivator 1-beta
Names
PGC-1-related estrogen receptor alpha coactivator
PPAR-gamma coactivator 1-beta
PPARGC-1-beta
PPARgamma coactivator 1 beta
peroxisome proliferator-activated receptor gamma, coactivator 1 beta

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_016747.1 RefSeqGene

    Range
    5001..129771
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001172698.1NP_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/Swiss-Prot
    Q86YN6
    UniProtKB/TrEMBL
    B7ZM40
    Related
    ENSP00000353638, OTTHUMP00000198107, ENST00000360453, OTTHUMT00000319319
    Conserved Domains (2) summary
    smart00360
    Location:864934
    RRM; RNA recognition motif
    cd12356
    Location:861940
    RRM_PPARGC1B; RNA recognition motif in peroxisome proliferator-activated receptor gamma coactivator 1-beta (PGC-1-beta) and similar proteins
  2. NM_001172699.1NP_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/Swiss-Prot
    Q86YN6
    Related
    ENSP00000384403, OTTHUMP00000198104, ENST00000403750, OTTHUMT00000319316
    Conserved Domains (2) summary
    smart00360
    Location:839909
    RRM; RNA recognition motif
    cd12356
    Location:836915
    RRM_PPARGC1B; RNA recognition motif in peroxisome proliferator-activated receptor gamma coactivator 1-beta (PGC-1-beta) and similar proteins
  3. NM_133263.3NP_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
    Q86YN6
    Related
    ENSP00000312649, OTTHUMP00000160530, ENST00000309241, OTTHUMT00000252334
    Conserved Domains (2) summary
    smart00360
    Location:903973
    RRM; RNA recognition motif
    cd12356
    Location:900979
    RRM_PPARGC1B; RNA recognition motif in peroxisome proliferator-activated receptor gamma coactivator 1-beta (PGC-1-beta) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

    Range
    149730252..149857874
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537553.1XP_011535855.1  

    Related
    ENSP00000377855, OTTHUMP00000198105, ENST00000394320, OTTHUMT00000319317
    Conserved Domains (2) summary
    smart00360
    Location:903973
    RRM; RNA recognition motif
    cd12356
    Location:900979
    RRM_PPARGC1B; RNA recognition motif in peroxisome proliferator-activated receptor gamma coactivator 1-beta (PGC-1-beta) and similar proteins
  2. XM_011537557.1XP_011535859.1  

  3. XM_011537555.1XP_011535857.1  

    Conserved Domains (2) summary
    smart00360
    Location:864934
    RRM; RNA recognition motif
    cd12356
    Location:861940
    RRM_PPARGC1B; RNA recognition motif in peroxisome proliferator-activated receptor gamma coactivator 1-beta (PGC-1-beta) and similar proteins
  4. XM_011537554.1XP_011535856.1  

    Conserved Domains (2) summary
    smart00360
    Location:882952
    RRM; RNA recognition motif
    cd12356
    Location:879958
    RRM_PPARGC1B; RNA recognition motif in peroxisome proliferator-activated receptor gamma coactivator 1-beta (PGC-1-beta) and similar proteins
  5. XM_005268372.3XP_005268429.1  

    UniProtKB/Swiss-Prot
    Q86YN6
    Conserved Domains (2) summary
    smart00360
    Location:882952
    RRM; RNA recognition motif
    cd12356
    Location:879958
    RRM_PPARGC1B; RNA recognition motif in peroxisome proliferator-activated receptor gamma coactivator 1-beta (PGC-1-beta) and similar proteins
  6. XM_011537556.1XP_011535858.1  

    Conserved Domains (2) summary
    smart00360
    Location:699769
    RRM; RNA recognition motif
    cd12356
    Location:696775
    RRM_PPARGC1B; RNA recognition motif in peroxisome proliferator-activated receptor gamma coactivator 1-beta (PGC-1-beta) and similar proteins

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

    Range
    148542243..148667243
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)