USF1 Gene - Upstream Transcription Factor 1
A master regulator of lipid metabolism and glucose homeostasis
Gene Information Card
| Symbol | USF1 |
|---|---|
| Full Name | Upstream Transcription Factor 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 7391 ncbi.nlm.nih.gov/gene/7391 |
| Ensembl ID | ENSG00000158773 |
| UniProt ID | P22415 |
| OMIM ID | 191170 |
| HGNC ID | 12593 |
| Aliases | bHLHb11, FCHL, MLR, UEF, USF |
Description
USF1 encodes a basic helix-loop-helix leucine zipper transcription factor that binds to E-box motifs (5'-CANNTG-3') and regulates genes involved in lipid and glucose metabolism, cell cycle, and stress response. It functions as a homodimer or heterodimer with USF2. Variants in USF1 are associated with familial combined hyperlipidemia (FCHL) and type 2 diabetes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Familial Combined Hyperlipidemia (FCHL) | Altered USF1 expression disrupts lipid metabolism gene regulation, leading to elevated cholesterol and triglycerides. | OMIM #144250; multiple association studies |
| Type 2 Diabetes | USF1 variants affect insulin secretion and glucose homeostasis via regulation of glucokinase and other metabolic genes. | ClinVar; PMID: 17293852 |
| Breast Cancer | USF1 overexpression correlates with poor prognosis; regulates cell cycle genes (e.g., CCND1). | COSMIC; PMID: 23542377 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Pancreas | 8.3 | Low |
| Adipose Tissue | 10.1 | Medium |
| Kidney | 9.7 | Low |
| Heart | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| MCF7 | 11.8 | Breast cancer cell line |
| HeLa | 9.5 | Cervical cancer cell line |
| K562 | 6.3 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.-232C>T | SNP | 0.05 (5% in European populations) | Associated with FCHL risk; alters promoter activity |
| p.Gly262Arg | Missense | <0.01 | Reduced DNA-binding affinity; reported in FCHL |
| p.Arg258Trp | Missense | <0.01 | Loss of transactivation; ClinVar pathogenic |
Mutation functional classification
Loss of Function (LOF)
p.Arg258Trp reduces DNA binding and transcriptional activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
p.Gly262Arg may interfere with dimerization and function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Lipid metabolism and transport (Reactome: R-HSA-556833)
• Glucose metabolism (Reactome: R-HSA-70263)
• p53 signaling pathway (KEGG: hsa04115)
Protein Summary
USF1 is a 310-amino-acid transcription factor with a basic helix-loop-helix (bHLH) domain and a leucine zipper motif. It binds E-box sequences as a homodimer or heterodimer with USF2. The protein is ubiquitously expressed, with highest levels in liver and adipose tissue. It regulates key metabolic genes including FASN, SREBF1, and GCK. Post-translational modifications include phosphorylation and acetylation, modulating its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USF1 Knockout HEK293 Cell Line | EDJ-KQ5276 | Human | 7391 | Details Get a Quote |
| USF1 Knockout A-549 Cell Line | EDJ-KQ29604 | Human | 7391 | Details Get a Quote |
| USF1 Knockout HCT 116 Cell Line | EDJ-KQ29606 | Human | 7391 | Details Get a Quote |
| USF1 Knockout HeLa Cell Line | EDJ-KQ29607 | Human | 7391 | Details Get a Quote |
