PPARGC1B Gene - Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1 Beta
A key regulator of mitochondrial biogenesis, oxidative metabolism, and energy homeostasis.
Gene Information Card
| Symbol | PPARGC1B |
|---|---|
| Full Name | Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1 Beta |
| Gene Type | Protein coding |
| Chromosomal Location | 5q32 |
| NCBI Gene ID | 133522 ncbi.nlm.nih.gov/gene/133522 |
| Ensembl ID | ENSG00000171444 |
| UniProt ID | Q86YN6 |
| OMIM ID | 608886 |
| HGNC ID | 30041 |
| Aliases | PGC-1β, PGC1B, PERC, PPARGC1 |
Description
PPARGC1B (Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1 Beta) encodes a transcriptional coactivator that interacts with PPARγ and other nuclear receptors to regulate genes involved in mitochondrial biogenesis, oxidative phosphorylation, and fatty acid oxidation. It plays a critical role in energy metabolism, thermogenesis, and adaptive responses to metabolic stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | PPARGC1B variants may alter energy expenditure and lipid metabolism, contributing to obesity risk. | PMID: 17212708 |
| Type 2 Diabetes | Reduced PPARGC1B expression in skeletal muscle is associated with impaired mitochondrial function and insulin resistance. | PMID: 12552113 |
| Metabolic Syndrome | Dysregulation of PPARGC1B-mediated oxidative metabolism is linked to metabolic syndrome components. | PMID: 17636005 |
| Breast Cancer | PPARGC1B overexpression has been observed in some breast cancers, potentially influencing tumor metabolism and progression. | PMID: 20010872 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal Muscle | 9.8 | Medium |
| Liver | 6.5 | Low |
| Kidney | 5.2 | Low |
| Brain | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 4.5 | Hepatocellular carcinoma cell line |
| MCF7 | 6.2 | Breast cancer cell line |
| SK-MEL-28 | 2.8 | Melanoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1444C>T (p.Arg482Cys) | Missense | <0.01% | Unknown functional effect; reported in COSMIC |
| c.196G>A (p.Gly66Ser) | Missense | <0.01% | Unknown functional effect; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; some variants may reduce coactivator activity.
Gain of Function (GOF)
Not well characterized; overexpression in cancer may suggest oncogenic potential.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• PPAR signaling pathway (KEGG: hsa03320)
• Thermogenesis (KEGG: hsa04714)
• Non-alcoholic fatty liver disease (KEGG: hsa04932)
Protein Summary
PPARGC1B (PGC-1β) is a 1023-amino acid protein that functions as a transcriptional coactivator. It contains an N-terminal activation domain, a nuclear receptor interaction domain, and a C-terminal RNA recognition motif. PGC-1β interacts with PPARγ, ERRα, and other transcription factors to promote mitochondrial biogenesis, oxidative metabolism, and fatty acid oxidation. Its expression is enriched in tissues with high oxidative capacity such as heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPARGC1B Knockout HEK293 Cell Line | EDJ-KQ9316 | Human | 133522 | Details Get a Quote |
| PPARGC1B Knockout HCT 116 Cell Line | EDJ-KQ35941 | Human | 133522 | Details Get a Quote |
| PPARGC1B Knockout HeLa Cell Line | EDJ-KQ34698 | Human | 133522 | Details Get a Quote |
| PPARGC1B Knockout A-549 Cell Line | EDJ-KQ66816 | Human | 133522 | Details Get a Quote |
