PER1 (Period Circadian Regulator 1)
A core circadian clock gene implicated in sleep disorders, cancer, and metabolic regulation.
Gene Information Card
| Symbol | PER1 |
|---|---|
| Full Name | Period Circadian Regulator 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 5187 ncbi.nlm.nih.gov/gene/5187 |
| Ensembl ID | ENSG00000179094 |
| UniProt ID | O15534 |
| OMIM ID | 602260 |
| HGNC ID | 8845 |
| Aliases | PER, hPER1, RIGUI |
Description
PER1 encodes a core circadian clock protein that forms a negative feedback loop with CLOCK/ARNTL heterodimers. It regulates daily rhythms in physiology and behavior, and has roles in cell cycle, DNA damage response, and metabolism. Mutations and altered expression are linked to sleep disorders, cancer, and metabolic syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Familial Advanced Sleep Phase Syndrome (FASPS) | Missense mutations in PER1 can alter the circadian period, leading to advanced sleep phase. | ClinVar, OMIM |
| Breast Cancer | Reduced PER1 expression is observed in tumors; PER1 may act as a tumor suppressor by regulating apoptosis and cell cycle. | COSMIC, PubMed (via NCBI) |
| Colorectal Cancer | PER1 downregulation correlates with poor prognosis; loss of PER1 promotes proliferation and invasion. | COSMIC, PubMed |
| Insomnia / Circadian Rhythm Disorders | Polymorphisms in PER1 are associated with diurnal preference and sleep timing. | ClinVar, PubMed |
| Metabolic Syndrome | PER1 variants influence glucose metabolism and lipid homeostasis, contributing to metabolic risk. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (suprachiasmatic nucleus) | High | High |
| Testis | High | High |
| Liver | Medium | Medium |
| Kidney | Medium | Medium |
| Lung | Low | Low |
| Heart | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | Medium | Circadian oscillation observed |
| MCF7 (breast cancer) | Low | Reduced expression compared to normal |
| HCT116 (colorectal cancer) | Low | Downregulated in tumors |
| U2OS (osteosarcoma) | High | Used in circadian studies |
| HepG2 (liver cancer) | Medium | Circadian expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2585405 (intronic variant) | SNP | Allele frequency ~0.3 (global) | Associated with sleep timing and metabolic traits |
| c.2435C>T (p.Pro812Leu) | Missense | Rare | May affect protein stability and circadian period |
| c.1120G>A (p.Val374Ile) | Missense | Rare | Reported in FASPS; alters phosphorylation |
| c.1465C>T (p.Arg489Trp) | Missense | Rare | Potential loss-of-function; linked to cancer |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in PER1 reduce its repressive activity on CLOCK/ARNTL, leading to disrupted circadian rhythms and increased cell proliferation.
Gain of Function (GOF)
Gain-of-function mutations are rare; some variants may stabilize PER1 protein, lengthening the circadian period.
Dominant Negative (DN)
Certain missense mutations (e.g., in the PAS domain) can act as dominant-negative, interfering with wild-type PER1 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Circadian Clock (KEGG hsa04710)
• Cell Cycle (KEGG hsa04110)
• p53 signaling pathway (KEGG hsa04115)
• DNA damage response (Reactome: R-HSA-73894)
Protein Summary
PER1 is a 1290-amino acid protein with PAS domains and a nuclear localization signal. It heterodimerizes with CRY proteins to inhibit CLOCK/ARNTL-mediated transcription. PER1 undergoes phosphorylation by casein kinases (CK1δ/ε), regulating its stability and nuclear entry. It also interacts with p53 and ATM, linking circadian control to DNA repair and apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PER1 Knockout HEK293 Cell Line | EDJ-KQ3506 | Human | 5187 | Details Get a Quote |
| GPER1 Knockout HEK293 Cell Line | EDJ-KQ4776 | Human | 2852 | Details Get a Quote |
| CATSPER1 Knockout HEK293 Cell Line | EDJ-KQ7593 | Human | 117144 | Details Get a Quote |
| CATSPER1 Knockout A-549 Cell Line | EDJ-KQ32931 | Human | 117144 | Details Get a Quote |
| CATSPER1 Knockout HCT 116 Cell Line | EDJ-KQ32932 | Human | 117144 | Details Get a Quote |
| CATSPER1 Knockout HeLa Cell Line | EDJ-KQ32933 | Human | 117144 | Details Get a Quote |
| PER1 Knockout A-549 Cell Line | EDJ-KQ25318 | Human | 5187 | Details Get a Quote |
| PER1 Knockout HCT 116 Cell Line | EDJ-KQ25319 | Human | 5187 | Details Get a Quote |
| PER1 Knockout HeLa Cell Line | EDJ-KQ25320 | Human | 5187 | Details Get a Quote |
| GPER1 Knockout HCT 116 Cell Line | EDJ-KQ26311 | Human | 2852 | Details Get a Quote |
| GPER1 Knockout HeLa Cell Line | EDJ-KQ53404 | Human | 2852 | Details Get a Quote |
| GPER1 Knockout A-549 Cell Line | EDJ-KQ61881 | Human | 2852 | Details Get a Quote |
| GPER1 Knockout AsPC-1 Cell Line | EDC07694 | Human | 2852 | Details Get a Quote |
| GPER1（p.R253A and p.R254A） Point Mutation in A-549 Cell Line | EDC03195 | Human | 2852 | Details Get a Quote |
Displaying Records 1 To 14 Of 14 Records
