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

Summary

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

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

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.
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.
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.
LMP1 mediates tumorigenesis through persistent epigenetic modifications and PGC1beta upregulation.
Title: LMP1 mediates tumorigenesis through persistent epigenetic modifications and PGC1β upregulation.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Genome-wide association study of tanning phenotype in a population of European ancestry. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A189WF1 (e-PCR)
- UniSTS:72538

D5S442E (e-PCR)
- UniSTS:472976

SHGC-82137 (e-PCR)
- UniSTS:103056

D5S1907 (e-PCR)
- UniSTS:42905

bac51268T (e-PCR)
- UniSTS:181437

D5S442E (e-PCR)
- UniSTS:147432

L28290 (e-PCR)
- UniSTS:50686

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 alkaline phosphatase activity	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

NG_016747.2 RefSeqGene

Range

5002..129714

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

149730310..149857959

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060929.1 Alternate T2T-CHM13v2.0

Range

150266870..150394600

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054351585.1 → XP_054207560.1 peroxisome proliferator-activated receptor gamma coactivator 1-beta isoform X1
XM_054351587.1 → XP_054207562.1 peroxisome proliferator-activated receptor gamma coactivator 1-beta isoform X3
XM_054351589.1 → XP_054207564.1 peroxisome proliferator-activated receptor gamma coactivator 1-beta isoform X5
XM_054351586.1 → XP_054207561.1 peroxisome proliferator-activated receptor gamma coactivator 1-beta isoform X2
XM_054351588.1 → XP_054207563.1 peroxisome proliferator-activated receptor gamma coactivator 1-beta isoform X4