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Aliases for PER3 Gene

Aliases for PER3 Gene

  • Period Circadian Clock 3 2 3 5
  • Cell Growth-Inhibiting Gene 13 Protein 3 4
  • Circadian Clock Protein PERIOD 3 3 4
  • HPER3 3 4
  • Period (Drosophila) Homolog 3 2
  • Period Homolog 3 (Drosophila) 2
  • Period Circadian Protein 3 3
  • FASPS3 3
  • GIG13 3

External Ids for PER3 Gene

Previous GeneCards Identifiers for PER3 Gene

  • GC01P007426
  • GC01P007653
  • GC01P007554
  • GC01P007778
  • GC01P006993

Summaries for PER3 Gene

Entrez Gene Summary for PER3 Gene

  • This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been linked to sleep disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014]

GeneCards Summary for PER3 Gene

PER3 (Period Circadian Clock 3) is a Protein Coding gene. Diseases associated with PER3 include Advanced Sleep Phase Syndrome and Delayed Sleep Phase Syndrome. Among its related pathways are Circadian rhythm and Circadian entrainment. GO annotations related to this gene include signal transducer activity and kinase binding. An important paralog of this gene is PER2.

UniProtKB/Swiss-Prot for PER3 Gene

  • Originally described as a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots circa (about) and diem (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for timegivers). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5-CACGTG-3) within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK NPAS2-ARNTL/BMAL1 ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1, NR1D2, RORA, RORB and RORG, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. Has a redundant role with the other PER proteins PER1 and PER2 and is not essential for the circadian rhythms maintenance. In contrast, plays an important role in sleep-wake timing and sleep homeostasis probably through the transcriptional regulation of sleep homeostasis-related genes, without influencing circadian parameters. Can bind heme.

Gene Wiki entry for PER3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PER3 Gene

Genomics for PER3 Gene

Regulatory Elements for PER3 Gene

Enhancers for PER3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PER3 on UCSC Golden Path with GeneCards custom track

Promoters for PER3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PER3 on UCSC Golden Path with GeneCards custom track

Genomic Location for PER3 Gene

Chromosome:
1
Start:
7,784,320 bp from pter
End:
7,845,181 bp from pter
Size:
60,862 bases
Orientation:
Plus strand

Genomic View for PER3 Gene

Genes around PER3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PER3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PER3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PER3 Gene

Proteins for PER3 Gene

  • Protein details for PER3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56645-PER3_HUMAN
    Recommended name:
    Period circadian protein homolog 3
    Protein Accession:
    P56645
    Secondary Accessions:
    • Q5H8X4
    • Q5H8X5
    • Q969K6
    • Q96S77
    • Q96S78
    • Q9C0J3
    • Q9NSP9
    • Q9UGU8

    Protein attributes for PER3 Gene

    Size:
    1201 amino acids
    Molecular mass:
    131888 Da
    Quaternary structure:
    • Homodimer. Component of the circadian core oscillator, which includes the CRY proteins, CLOCK or NPAS2, ARTNL/BMAL1 or ARTNL2/BMAL2, CSNK1D and/or CSNK1E, TIMELESS and the PER proteins. Interacts directly with PER1, PER2, CRY1, CRY2, and TIMELESS; interaction with CRY1 and CRY2 is weak and not rhythmic. Interacts with FBXW11 and BTRC.
    SequenceCaution:
    • Sequence=BAB32925.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for PER3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PER3 Gene

Proteomics data for PER3 Gene at MOPED

Post-translational modifications for PER3 Gene

  • Phosphorylation by CSNK1E is weak and appears to require association with PER1 and translocation to the nucleus.
  • Ubiquitinated.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PER3 Gene

Domains & Families for PER3 Gene

Protein Domains for PER3 Gene

Suggested Antigen Peptide Sequences for PER3 Gene

Graphical View of Domain Structure for InterPro Entry

P56645

UniProtKB/Swiss-Prot:

PER3_HUMAN :
  • Contains 1 PAC (PAS-associated C-terminal) domain.
Domain:
  • Contains 1 PAC (PAS-associated C-terminal) domain.
  • Contains 2 PAS (PER-ARNT-SIM) domains.
genes like me logo Genes that share domains with PER3: view

No data available for Gene Families for PER3 Gene

Function for PER3 Gene

Molecular function for PER3 Gene

UniProtKB/Swiss-Prot Function:
Originally described as a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots circa (about) and diem (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for timegivers). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5-CACGTG-3) within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK NPAS2-ARNTL/BMAL1 ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1, NR1D2, RORA, RORB and RORG, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. Has a redundant role with the other PER proteins PER1 and PER2 and is not essential for the circadian rhythms maintenance. In contrast, plays an important role in sleep-wake timing and sleep homeostasis probably through the transcriptional regulation of sleep homeostasis-related genes, without influencing circadian parameters. Can bind heme.

Gene Ontology (GO) - Molecular Function for PER3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 21070773
genes like me logo Genes that share ontologies with PER3: view
genes like me logo Genes that share phenotypes with PER3: view

Animal Models for PER3 Gene

MGI Knock Outs for PER3:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PER3 Gene

Localization for PER3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PER3 Gene

Cytoplasm. Nucleus. Note=Mainly cytoplasmic. Translocates to the nucleus through binding PER1, PER2, CRY1 or CRY2, but not TIMELESS (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PER3 Gene COMPARTMENTS Subcellular localization image for PER3 gene
Compartment Confidence
nucleus 5
cytosol 4
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for PER3 Gene

Pathways & Interactions for PER3 Gene

genes like me logo Genes that share pathways with PER3: view

Pathways by source for PER3 Gene

1 Qiagen pathway for PER3 Gene

Gene Ontology (GO) - Biological Process for PER3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0007623 circadian rhythm IEA --
GO:0032922 circadian regulation of gene expression IEA --
GO:0045187 regulation of circadian sleep/wake cycle, sleep IEA,IMP 17346965
genes like me logo Genes that share ontologies with PER3: view

No data available for SIGNOR curated interactions for PER3 Gene

Drugs & Compounds for PER3 Gene

No Compound Related Data Available

Transcripts for PER3 Gene

Unigene Clusters for PER3 Gene

Period circadian clock 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PER3 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^ 10 ^ 11
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for PER3 Gene

GeneLoc Exon Structure for
PER3
ECgene alternative splicing isoforms for
PER3

Expression for PER3 Gene

mRNA expression in normal human tissues for PER3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PER3 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.2).

Protein differential expression in normal tissues from HIPED for PER3 Gene

This gene is overexpressed in Breast (57.4) and CD8 Tcells (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PER3 Gene



SOURCE GeneReport for Unigene cluster for PER3 Gene Hs.162200

genes like me logo Genes that share expression patterns with PER3: view

Protein tissue co-expression partners for PER3 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for PER3 Gene

Orthologs for PER3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PER3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PER3 35
  • 81.16 (n)
  • 75.57 (a)
dog
(Canis familiaris)
Mammalia PER3 35
  • 77.61 (n)
  • 68.17 (a)
PER3 36
  • 61 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Per3 35
  • 72.54 (n)
  • 64.86 (a)
Per3 16
Per3 36
  • 58 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PER3 35
  • 98.93 (n)
  • 98.31 (a)
PER3 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Per3 35
  • 73.78 (n)
  • 66.13 (a)
oppossum
(Monodelphis domestica)
Mammalia PER3 36
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves PER3 35
  • 61.55 (n)
  • 54.76 (a)
PER3 36
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia per3 35
  • 58.29 (n)
  • 51.69 (a)
zebrafish
(Danio rerio)
Actinopterygii per3 35
  • 54.63 (n)
  • 50.64 (a)
per3 36
  • 36 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta per 36
  • 9 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lin-42 36
  • 15 (a)
OneToMany
Species with no ortholog for PER3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PER3 Gene

ENSEMBL:
Gene Tree for PER3 (if available)
TreeFam:
Gene Tree for PER3 (if available)

Paralogs for PER3 Gene

Paralogs for PER3 Gene

(2) SIMAP similar genes for PER3 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for PER3 Gene

genes like me logo Genes that share paralogs with PER3: view

Variants for PER3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PER3 Gene

PER3_HUMAN-P56645
The number of repeats of 18 amino acids in positions 966 to 1055 is polymorphic and varies among at least 2 different alleles. Alleles corresponding in size to a 4 (PER3.4) and 5 (PER3.5) repeats have been described. The sequence shown is that of allele PER3.5. In most populations around 10% of individuals are homozygous for the 5-repeat (PER3.5), whereas approximately 50% are homozygous for the 4-repeat (PER3.4). In some populations in Papua New Guinea the prevalence of the various genotypes appears to be reversed. These repeats and polymorphism are not present in non-primate mammals. Homozygosity for PER3.5 is more likely to show morning preference, whereas homozygosity for the PER3.4 associates with evening preferences. PER3.5 homozygous show vulnerability to sleep loss with a greater cognitive decline in response to total sleep deprivation (PubMed:11306557, PubMed:17346965, PubMed:19716732, PubMed:24439663, PubMed:24577121).

Sequence variations from dbSNP and Humsavar for PER3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs228697 - 7,827,519(+) ACCCC(C/G)CTGTC reference, missense
rs228696 - 7,827,433(+) TGGGC(C/T)GCCCT reference, missense
rs10462020 - 7,820,623(+) CCATG(G/T)CCCAC reference, missense
rs2640909 - 7,830,057(+) GTCCA(C/T)GGGAT reference, missense
rs10462021 - 7,837,073(+) TTCTC(A/G)TGGGC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PER3 Gene

Variant ID Type Subtype PubMed ID
nsv870846 CNV Loss 21882294
nsv161033 CNV Loss 16902084
esv2742917 CNV Deletion 23290073
esv2743028 CNV Deletion 23290073
esv991458 CNV Deletion 20482838

Variation tolerance for PER3 Gene

Residual Variation Intolerance Score: 68.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.34; 70.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PER3 Gene

Human Gene Mutation Database (HGMD)
PER3

Disorders for PER3 Gene

MalaCards: The human disease database

(10) MalaCards diseases for PER3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
advanced sleep phase syndrome
  • familial advanced sleep-phase syndrome
delayed sleep phase syndrome
  • delayed sleep phase syndrome, susceptibility to
sleep disorder
  • non-organic sleep disorder
anthracosilicosis
acute stress disorder
  • traumatic stress disorder
- elite association - COSMIC cancer census association via MalaCards
Search PER3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PER3

Genetic Association Database (GAD)
PER3
Human Genome Epidemiology (HuGE) Navigator
PER3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PER3
genes like me logo Genes that share disorders with PER3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PER3 Gene

Publications for PER3 Gene

  1. PER3 polymorphism predicts sleep structure and waking performance. (PMID: 17346965) Viola A.U. … Dijk D.J. (Curr. Biol. 2007) 3 4 48 67
  2. Differential association of circadian genes with mood disorders: CRY1 and NPAS2 are associated with unipolar major depression and CLOCK and VIP with bipolar disorder. (PMID: 20072116) Soria V. … Urretavizcaya M. (Neuropsychopharmacology 2010) 3 23
  3. Expression profiles of PERIOD1, 2, and 3 in peripheral blood mononuclear cells from older subjects. (PMID: 19013183) Hida A. … Mishima K. (Life Sci. 2009) 3 23
  4. Association between specific diurnal preference questionnaire items and PER3 VNTR genotype. (PMID: 19360490) Ellis J. … Archer S.N. (Chronobiol. Int. 2009) 3 23
  5. Circadian disruption, Per3, and human cytokine secretion. (PMID: 19926609) Guess J. … Hrushesky W.J. (Integr Cancer Ther 2009) 3 23

Products for PER3 Gene

Sources for PER3 Gene

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