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Aliases for PER1 Gene

Aliases for PER1 Gene

  • Period Circadian Regulator 1 2 3 5
  • Circadian Clock Protein PERIOD 1 3 4
  • Period Circadian Clock 1 2 3
  • RIGUI 3 4
  • HPER1 3 4
  • PER 3 4
  • Period Circadian Protein Homolog 1 3
  • Circadian Pacemaker Protein RIGUI 3
  • Circadian Pacemaker Protein Rigui 4
  • Period, Drosophila, Homolog Of 3
  • Period (Drosophila) Homolog 1 2
  • Period Homolog 1 (Drosophila) 2
  • Period Homolog 1 3
  • KIAA0482 4
  • HPER 3

External Ids for PER1 Gene

Previous HGNC Symbols for PER1 Gene

  • PER

Previous GeneCards Identifiers for PER1 Gene

  • GC17U990073
  • GC17M009132
  • GC17M007986
  • GC17M008244
  • GC17M007984
  • GC17M008043
  • GC17M007938
  • GC17M008164
  • GC17M008186
  • GC17M008256
  • GC17M008333
  • GC17M008361
  • GC17M008407
  • GC17M008439
  • GC17M008475

Summaries for PER1 Gene

Entrez Gene Summary for PER1 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 may increase the risk of getting certain cancers. Alternative splicing has been observed in this gene; however, these variants have not been fully described. [provided by RefSeq, Jan 2014]

GeneCards Summary for PER1 Gene

PER1 (Period Circadian Regulator 1) is a Protein Coding gene. Diseases associated with PER1 include Periodic Limb Movement Disorder and Advanced Sleep Phase Syndrome. Among its related pathways are Circadian rhythm pathway and BMAL1-CLOCK,NPAS2 activates circadian gene expression. Gene Ontology (GO) annotations related to this gene include transcription factor binding and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is PER2.

UniProtKB/Swiss-Prot for PER1 Gene

  • Transcriptional repressor which forms 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 NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. Regulates circadian target genes expression at post-transcriptional levels, but may not be required for the repression at transcriptional level. Controls PER2 protein decay. Represses CRY2 preventing its repression on CLOCK/ARNTL target genes such as FXYD5 and SCNN1A in kidney and PPARA in liver. Besides its involvement in the maintenance of the circadian clock, has an important function in the regulation of several processes. Participates in the repression of glucocorticoid receptor NR3C1/GR-induced transcriptional activity by reducing the association of NR3C1/GR to glucocorticoid response elements (GREs) by ARNTL:CLOCK. Plays a role in the modulation of the neuroinflammatory state via the regulation of inflammatory mediators release, such as CCL2 and IL6. In spinal astrocytes, negatively regulates the MAPK14/p38 and MAPK8/JNK MAPK cascades as well as the subsequent activation of NFkappaB. Coordinately regulates the expression of multiple genes that are involved in the regulation of renal sodium reabsorption. Can act as gene expression activator in a gene and tissue specific manner, in kidney enhances WNK1 and SLC12A3 expression in collaboration with CLOCK. Modulates hair follicle cycling. Represses the CLOCK-ARNTL/BMAL1 induced transcription of BHLHE40/DEC1.

Gene Wiki entry for PER1 Gene

Additional gene information for PER1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PER1 Gene

Genomics for PER1 Gene

GeneHancer (GH) Regulatory Elements for PER1 Gene

Promoters and enhancers for PER1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J008149 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 686.4 -0.8 -813 16 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 PER1 VAMP2 DVL2 CTC1 PFAS CNTROB POLR2A ENSG00000265749 WRAP53 SNORD10
GH17J008142 Promoter 0.5 EPDnew 650.4 +14.2 14219 0.1 PER1 GC17M008541 MIR6883 TRT-AGT5-1
GH17J008172 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 65.8 -18.5 -18461 5.2 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF416 VAMP2 GC17M008543 SNORD118 TMEM107 LOC105371520 DVL2 CNTROB CTC1 WRAP53 POLR2A
GH17J007833 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 54.8 +316.8 316777 12.5 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 KDM6B CHD3 DVL2 PFAS CTC1 WRAP53 CNTROB POLR2A SNORD10 SNORA48
GH17J007474 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 40.1 +675.9 675917 12.5 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC POLR2A ZBTB4 SLC35G6 KIAA0753 DVL2 SNORD10 PFAS CTC1 SNORA48 WRAP53
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PER1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PER1 gene promoter:
  • c-Jun
  • ATF-2
  • p53
  • AP-1
  • E2F-4
  • E2F-3a
  • E2F-2

Genomic Locations for PER1 Gene

Genomic Locations for PER1 Gene
chr17:8,140,470-8,156,506
(GRCh38/hg38)
Size:
16,037 bases
Orientation:
Minus strand
chr17:8,043,788-8,059,824
(GRCh37/hg19)
Size:
16,037 bases
Orientation:
Minus strand

Genomic View for PER1 Gene

Genes around PER1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PER1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PER1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PER1 Gene

Proteins for PER1 Gene

  • Protein details for PER1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15534-PER1_HUMAN
    Recommended name:
    Period circadian protein homolog 1
    Protein Accession:
    O15534
    Secondary Accessions:
    • B2RPA8
    • B4DI49
    • D3DTR3

    Protein attributes for PER1 Gene

    Size:
    1290 amino acids
    Molecular mass:
    136212 Da
    Quaternary structure:
    • Homodimer. Component of the circadian core oscillator, which includes the CRY proteins, CLOCK or NPAS2, ARNTL/BMAL1 or ARNTL2/BMAL2, CSNK1D and/or CSNK1E, TIMELESS, and the PER proteins. Interacts directly with TIMELESS, PER2, PER3 and, through a C-terminal domain, with CRY1 and CRY2. Interacts with ARNTL/BMAL1 and CLOCK. Interacts with GPRASP1. Interacts (phosphorylated) with BTRC and FBXW11; the interactions trigger proteasomal degradation. Interacts with NONO, WDR5 and SFPQ. Interacts with USP2 (By similarity).
    SequenceCaution:
    • Sequence=BAC06326.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PER1 Gene

    Alternative splice isoforms for PER1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PER1 Gene

Post-translational modifications for PER1 Gene

  • Phosphorylated on serine residues by CSNK1D, CSNK1E and probably also by CSNK1G2. Phosphorylation by CSNK1D or CSNK1E promotes nuclear location of PER proteins as well as ubiquitination and subsequent degradation. May be dephosphorylated by PP1.
  • Ubiquitinated; requires phosphorylation by CSNK1E and interaction with BTRC and FBXW11. Deubiquitinated by USP2 (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PER1 Gene

Domains & Families for PER1 Gene

Gene Families for PER1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for PER1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PER1: view

No data available for UniProtKB/Swiss-Prot for PER1 Gene

Function for PER1 Gene

Molecular function for PER1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor which forms 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 NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. Regulates circadian target genes expression at post-transcriptional levels, but may not be required for the repression at transcriptional level. Controls PER2 protein decay. Represses CRY2 preventing its repression on CLOCK/ARNTL target genes such as FXYD5 and SCNN1A in kidney and PPARA in liver. Besides its involvement in the maintenance of the circadian clock, has an important function in the regulation of several processes. Participates in the repression of glucocorticoid receptor NR3C1/GR-induced transcriptional activity by reducing the association of NR3C1/GR to glucocorticoid response elements (GREs) by ARNTL:CLOCK. Plays a role in the modulation of the neuroinflammatory state via the regulation of inflammatory mediators release, such as CCL2 and IL6. In spinal astrocytes, negatively regulates the MAPK14/p38 and MAPK8/JNK MAPK cascades as well as the subsequent activation of NFkappaB. Coordinately regulates the expression of multiple genes that are involved in the regulation of renal sodium reabsorption. Can act as gene expression activator in a gene and tissue specific manner, in kidney enhances WNK1 and SLC12A3 expression in collaboration with CLOCK. Modulates hair follicle cycling. Represses the CLOCK-ARNTL/BMAL1 induced transcription of BHLHE40/DEC1.
UniProtKB/Swiss-Prot Induction:
Serum-induced levels in fibroblasts show circadian oscillations. Maximum levels after 1 hour stimulation, minimum levels after 12 hours. Another peak is then observed after 20 hours. Protein levels show maximum levels at 6 hours, decrease to reach minimum levels at 20 hours, and increase again to reach a second peak after 26 hours. Levels then decrease slightly and then increase to maximum levels at 32 hours. Levels of phosphorylated form increase between 3 hours and 12 hours.
GENATLAS Biochemistry:
Drosophila period gene homolog,ortholog of murine Rigui,expressed in suprachiasmatic nucleus,putative key regulator of circadian rythms

Phenotypes From GWAS Catalog for PER1 Gene

Gene Ontology (GO) - Molecular Function for PER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IEA,IBA --
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 18411297
GO:0000989 transcription factor activity, transcription factor binding ISS --
GO:0001222 transcription corepressor binding IBA --
GO:0005515 protein binding IPI 23503662
genes like me logo Genes that share ontologies with PER1: view
genes like me logo Genes that share phenotypes with PER1: view

Animal Models for PER1 Gene

MGI Knock Outs for PER1:

Animal Model Products

miRNA for PER1 Gene

miRTarBase miRNAs that target PER1

Clone Products

  • Addgene plasmids for PER1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PER1 Gene

Localization for PER1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PER1 Gene

Nucleus. Cytoplasm. Note=Nucleocytoplasmic shuttling is effected by interaction with other circadian core oscillator proteins and/or by phosphorylation. Retention of PER1 in the cytoplasm occurs through PER1-PER2 heterodimer formation. Translocate to the nucleus after phosphorylation by CSNK1D or CSNK1E. Also translocated to the nucleus by CRY1 or CRY2 (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PER1 gene
Compartment Confidence
nucleus 5
cytosol 5
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 24005054
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with PER1: view

Pathways & Interactions for PER1 Gene

genes like me logo Genes that share pathways with PER1: view

SIGNOR curated interactions for PER1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for PER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II ISS --
GO:0002028 regulation of sodium ion transport ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007623 circadian rhythm TAS,IEP 14645221
genes like me logo Genes that share ontologies with PER1: view

Drugs & Compounds for PER1 Gene

(4) Drugs for PER1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Avibactam Approved Pharma Target, inhibitor Beta-lactamase inhibitor 28

(1) Additional Compounds for PER1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PER1: view

Transcripts for PER1 Gene

Unigene Clusters for PER1 Gene

Period circadian clock 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for PER1

Alternative Splicing Database (ASD) splice patterns (SP) for PER1 Gene

No ASD Table

Relevant External Links for PER1 Gene

GeneLoc Exon Structure for
PER1
ECgene alternative splicing isoforms for
PER1

Expression for PER1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PER1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PER1 Gene

This gene is overexpressed in Tlymphocyte (26.9), Blymphocyte (23.0), and Monocytes (15.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PER1 Gene



Protein tissue co-expression partners for PER1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PER1 Gene:

PER1

SOURCE GeneReport for Unigene cluster for PER1 Gene:

Hs.445534

mRNA Expression by UniProt/SwissProt for PER1 Gene:

O15534-PER1_HUMAN
Tissue specificity: Widely expressed. Expressed in hair follicles (at protein level).Found in heart, brain, placenta, lung, liver, skeletal muscle, pancreas, kidney, spleen, thymus, prostate, testis, ovary and small intestine. Highest level in skeletal muscle.

Evidence on tissue expression from TISSUES for PER1 Gene

  • Nervous system(4.9)
  • Heart(4.3)
  • Muscle(2.3)
genes like me logo Genes that share expression patterns with PER1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PER1 Gene

Orthologs for PER1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PER1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PER1 34 33
  • 99.33 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PER1 34 33
  • 88.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PER1 34 33
  • 87.97 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Per1 16 34 33
  • 87.75 (n)
rat
(Rattus norvegicus)
Mammalia Per1 33
  • 86.86 (n)
oppossum
(Monodelphis domestica)
Mammalia PER1 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PER1 34
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PER1 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia per1 33
  • 63.36 (n)
African clawed frog
(Xenopus laevis)
Amphibia per1-A 33
zebrafish
(Danio rerio)
Actinopterygii per1b 34
  • 46 (a)
OneToMany
per1a 34
  • 45 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11645 33
fruit fly
(Drosophila melanogaster)
Insecta per 34
  • 11 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lin-42 34
  • 19 (a)
OneToMany
Species where no ortholog for PER1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 PER1 Gene

ENSEMBL:
Gene Tree for PER1 (if available)
TreeFam:
Gene Tree for PER1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PER1: view image

Paralogs for PER1 Gene

Paralogs for PER1 Gene

(2) SIMAP similar genes for PER1 Gene using alignment to 12 proteins:

  • PER1_HUMAN
  • A2I2P6_HUMAN
  • B4DI49_HUMAN
  • J3KRL7_HUMAN
  • J3KSL6_HUMAN
  • J3KTM2_HUMAN
  • J3QL46_HUMAN
  • J3QL55_HUMAN
  • J3QLQ5_HUMAN
  • J3QSH9_HUMAN
  • Q6IN51_HUMAN
  • Q9H2D0_HUMAN
genes like me logo Genes that share paralogs with PER1: view

Variants for PER1 Gene

Sequence variations from dbSNP and Humsavar for PER1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs761958964 A colorectal cancer sample 8,142,729(-) G/A coding_sequence_variant, missense_variant
VAR_036038 A breast cancer sample p.Glu696Gln
VAR_036039 A breast cancer sample p.Asn985Ser
rs1000050064 -- 8,152,390(-) C/G 5_prime_UTR_variant, intron_variant
rs1000277927 -- 8,157,994(-) T/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PER1 Gene

Variant ID Type Subtype PubMed ID
esv2715610 CNV deletion 23290073
nsv1964 CNV insertion 18451855
nsv457661 CNV loss 19166990
nsv516242 CNV loss 19592680
nsv518983 CNV loss 19592680
nsv527475 CNV loss 19592680
nsv574335 CNV loss 21841781
nsv833352 CNV loss 17160897
nsv833353 CNV loss 17160897

Variation tolerance for PER1 Gene

Residual Variation Intolerance Score: 85.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.64; 56.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PER1 Gene

Human Gene Mutation Database (HGMD)
PER1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PER1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PER1 Gene

Disorders for PER1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PER1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
periodic limb movement disorder
  • nocturnal myoclonus
advanced sleep phase syndrome
  • familial advanced sleep-phase syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PER1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PER1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PER1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PER1 Gene

Publications for PER1 Gene

  1. Testing the circadian gene hypothesis in prostate cancer: a population-based case-control study. (PMID: 19934327) Zhu Y … Stanford JL (Cancer research 2009) 3 22 44 58
  2. Association of Per1 and Npas2 with autistic disorder: support for the clock genes/social timing hypothesis. (PMID: 17264841) Nicholas B … Wimpory DC (Molecular psychiatry 2007) 3 22 44 58
  3. A silent polymorphism in the PER1 gene associates with extreme diurnal preference in humans. (PMID: 17051316) Carpen JD … Archer SN (Journal of human genetics 2006) 3 22 44 58
  4. Human clock, PER1 and PER2 polymorphisms: lack of association with cocaine dependence susceptibility and cocaine-induced paranoia. (PMID: 17106427) Malison RT … Gelernter J (Psychiatric genetics 2006) 3 22 44 58
  5. SCFbeta-TRCP controls clock-dependent transcription via casein kinase 1-dependent degradation of the mammalian period-1 (Per1) protein. (PMID: 15917222) Shirogane T … Harper JW (The Journal of biological chemistry 2005) 3 4 22 58

Products for PER1 Gene