PER1

Chr 17

period circadian regulator 1

Also known as: PER, RIGUI, hPER

NCBI Gene: 5187ENSG00000179094UniProt: O15534OMIM: 602260

The PER1 protein is a transcriptional repressor that forms a core component of the circadian clock system, regulating approximately 24-hour rhythms in gene expression that control sleep, metabolism, body temperature, and other physiological processes. Mutations in PER1 cause familial advanced sleep phase disorder, which is inherited in an autosomal dominant pattern and characterized by very early sleep and wake times. The gene shows low constraint against loss-of-function variants (pLI 0.0003, LOEUF 0.466), suggesting haploinsufficiency may not be the primary disease mechanism.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.47
Clinical Summary— PER1
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.31) despite low pLI — interpret in context.
💊
Clinical Trials
9 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.47LOEUF
pLI 0.000
Z-score 4.73
OE 0.31 (0.21–0.47)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.20Z-score
OE missense 0.98 (0.92–1.04)
751 obs / 766.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.31 (0.21–0.47)
0≤0.351.4
Missense OE0.98 (0.92–1.04)
0≤0.61.4
Synonymous OE1.21
0≤1.21.6
LoF obs/exp: 17 / 54.8Missense obs/exp: 751 / 766.4Syn Z: -2.99

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PER1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Congenital Adrenal Hyperplasia (CAH)

Fertility And Sexual Function In CAH: CALLIOPE

RECRUITING
NCT07099456University of Roma La SapienzaStarted 2024-11-01
Pelvic Organ ProlapseFemale Urogenital Diseases

Pelvic Organs Prolapse Treatment Using Neodymium Laser

ACTIVE NOT RECRUITING
NCT05000957Phase NAMeLSyTech, LtdStarted 2021-10-03
Laser TreatmentBlood analysisСlinical urine test
Circadian RhythmEnergy BalanceAppetitive Behavior

Timing and Resistance Exercise: Impact on Eating and Metabolism

NOT YET RECRUITING
NCT06549322Phase NANational Taiwan Normal UniversityStarted 2024-09-01
The exercise in morningThe exercise in evening
Obesity Type I and IIObesity and Overweight

Metabolic Investigation, Physical Performance, Physical Training At Different Times of the Day in Obese Women

ACTIVE NOT RECRUITING
NCT06601660Phase NAState University of Minas GeraisStarted 2024-09-16
Morning Physical TrainingNight Physical TrainingNo intervention
Polycystic Ovary SyndromeDiminished Ovarian ReserveOvulation Disorder

Clinical Trial of Anovulatory Infertility

ENROLLING BY INVITATION
NCT06601452Phase EARLY_PHASE1Affiliated Hospital of Nanjing University of Chinese MedicineStarted 2024-09-30
a compound prescription of Chinese medicine
Multiple Sclerosis

Understanding the Impact of Meal Timing on Neurological Health in Adults With Multiple Sclerosis

NOT YET RECRUITING
NCT07475377Phase NAUniversity of Alabama at BirminghamStarted 2026-05-01
Time Restricted EatingUnrestricted eating
Type 2 Diabetes Mellitus (T2DM)HypertensionObesity and Type 2 Diabetes

Eating Window and Sleep Disorders on Glycemic Control, Cardiovascular Risk, and Weight Loss

ACTIVE NOT RECRUITING
NCT06735859Phase NAFederal University of São PauloStarted 2026-01-21
Comparison of eating windows intervention
Newly Diagnosed Multiple Myeloma

Expression-linked and R-ISS-adapted Stratification for First Line Therapy in Multiple Myeloma Patients

RECRUITING
NCT05665140Phase PHASE2, PHASE3University Hopsital Schleswig Holstein Campus LübeckStarted 2023-02-03
IsatuximabLenalidomideBortezomib
Mantle Cell LymphomaRefractory Lymphoma

Avo In R/R And Previously Untreated MCL

RECRUITING
NCT04855695Phase PHASE1, PHASE2Austin I KimStarted 2021-07-02
AcalabrutinibVenetoclaxObinutuzumab
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Integrated Genomic and Transcriptomic Study Reveals MAPK11 and PER1 as Important Obesity Susceptibility Genes in a High-Risk Hispanic/Latino Population.
Kim D et al.·Circ Genom Precis Med
2026
Circadian rhythm disruption affects cellular senescence through the BMAL1/CRY2/PER1 signaling pathway in periodontitis.
Zheng C et al.·J Mol Histol
2026
Deletion of Clock Gene Period1 (Per1) in Neurons but Not in Astrocytes Shortens Clock Period and Diminishes Light-Mediated Rapid Phase Advances in Mice.
Epuran DA et al.·Clocks Sleep
2026Open Access
Circadian regulator PER1 inhibits osteoclastogenesis by activating inflammatory genes.
Katoku-Kikyo N et al.·J Bone Miner Res
2026
Circadian clock genes Per1/Per2 deficiency induces premature age-related motor function decline in mice.
Fan Y et al.·Physiol Behav
2026
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients