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PER1 Gene

protein-coding   GIFtS: 62
GCID: GC17M008043

Period Circadian Clock 1

(Previous names: period (Drosophila) homolog 1, period homolog 1 (Drosophila))
(Previous symbol: PER)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Period Circadian Clock 11 2     Period Homolog 1 (Drosophila)1
PER1 2 3 5     hPER2
RIGUI2 3 5     Period Circadian Protein Homolog 12
Circadian Clock Protein PERIOD 12 3     Period Homolog 12
Circadian Pacemaker Protein Rigui2 3     Period, Drosophila, Homolog Of2
hPER12 3     KIAA04823
Period (Drosophila) Homolog 11     

External Ids:    HGNC: 88451   Entrez Gene: 51872   Ensembl: ENSG000001790947   OMIM: 6022605   UniProtKB: O155343   

Export aliases for PER1 gene to outside databases

Previous GC identifers: GC17U990073 GC17M009132 GC17M007986 GC17M008244 GC17M007984 GC17M007938


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 clock 1) is a protein-coding gene. Diseases associated with PER1 include advanced sleep phase syndrome, and delayed sleep phase syndrome. GO annotations related to this gene include E-box binding and signal transducer activity. An important paralog of this gene is PER3.

UniProtKB/Swiss-Prot: PER1_HUMAN, O15534
Function: Component of the circadian clock mechanism which is essential for generating circadian rhythms. Negative
element in the circadian transcriptional loop. Influences clock function by interacting with other circadian
regulatory proteins and transporting them to the nucleus. Negatively regulates CLOCK NPAS2-BMAL1 BMAL2-induced
transactivation. Can bind heme (By similarity)

Gene Wiki entry for PER1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PER1 gene promoter:
         E2F-3a   E2F-4   AP-1   p53   ATF-2   E2F-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PER1 promoter sequence
   Search Chromatin IP Primers for PER1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PER1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

PER1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PER1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M008043:  view genomic region     (about GC identifiers)

Start:
8,043,788 bp from pter      End:
8,059,824 bp from pter
Size:
16,037 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PER1_HUMAN, O15534 (See protein sequence)
Recommended Name: Period circadian protein homolog 1  
Size: 1290 amino acids; 136212 Da
Subunit: Homodimer (By similarity). Component of the circadian core oscillator, which includes the CRY proteins,
CLOCK or NPAS2, BMAL1 or 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. Interaction with CSNK1D or CSNK1E
promotes nuclear location of PER proteins. Interacts with GPRASP1 (By similarity). Binding to CSNK1G2 triggers
proteasomal degradation
Sequence caution: Sequence=BAC06326.2; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for PER1:
1UL6 (3D)    
Secondary accessions: B2RPA8 D3DTR3
Alternative splicing: 3 isoforms:  O15534-1   O15534-2   O15534-3   

Explore the universe of human proteins at neXtProt for PER1: NX_O15534

Explore proteomics data for PER1 at MOPED

Post-translational modifications: 

  • Phosphorylated on serine residues by CSNK1E. Also can be phosphorylated by the delta isoform. Phosphorylation by
    CSNK1 retains PER1 in the cytoplasm and leads to its ubiquitination and subsequent degradation1
  • Ubiquitinated (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PER1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002607.2  
    ENSEMBL proteins: 
     ENSP00000314420   ENSP00000462064   ENSP00000463054   ENSP00000346979   ENSP00000463369  
     ENSP00000464696   ENSP00000463385   ENSP00000462546   ENSP00000463661  
    Reactome Protein details: O15534

    PER1 Human Recombinant Protein Products:

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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for PER1
    GenScript Custom Purified and Recombinant Proteins Services for PER1
    Novus Biologicals PER1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PER1

    PER1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PER1
    R&D Systems Antibodies for PER1
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for PER1
    Novus Biologicals PER1 Antibodies
    Abcam antibodies for PER1
    Cloud-Clone Corp. Antibodies for PER1
    ThermoFisher Antibody for PER1
    LSBio Antibodies in human, mouse, rat for PER1

    PER1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PER1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PER1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PER1
    Cloud-Clone Corp. CLIAs for PER1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001610 PAC
     IPR000014 PAS
     IPR022728 Period_circadian-like_C

    Graphical View of Domain Structure for InterPro Entry O15534

    ProtoNet protein and cluster: O15534

    2 Blocks protein domains:
    IPB000014 PAS domain
    IPB001610 PAC motif


    UniProtKB/Swiss-Prot: PER1_HUMAN, O15534
    Similarity: Contains 1 PAC (PAS-associated C-terminal) domain
    Similarity: Contains 2 PAS (PER-ARNT-SIM) domains


    PER1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PER1_HUMAN, O15534
    Function: Component of the circadian clock mechanism which is essential for generating circadian rhythms. Negative
    element in the circadian transcriptional loop. Influences clock function by interacting with other circadian
    regulatory proteins and transporting them to the nucleus. Negatively regulates CLOCK NPAS2-BMAL1 BMAL2-induced
    transactivation. Can bind heme (By similarity)
    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 entry for PER1:
    Drosophila period gene homolog,ortholog of murine Rigui,expressed in suprachiasmatic nucleus,putative key
    regulator of circadian rythms

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA18411297
    GO:0000988protein binding transcription factor activity ----
    GO:0000989transcription factor binding transcription factor activity ISS--
    GO:0004871signal transducer activity IEA--
    GO:0005515protein binding ----
         
    PER1 for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Per1):
     behavior/neurological  growth/size/body  hematopoietic system  homeostasis/metabolism  mortality/aging 
     nervous system  renal/urinary system  reproductive system  skeleton 

    PER1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PER1: Per1tm1Brd Per1tm1Saco Per1tm1Drw

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PER1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PER1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PER1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PER1

    miRNA
    Products:
        
    miRTarBase miRNAs that target PER1:
    hsa-mir-484 (MIRT042311), hsa-mir-17-5p (MIRT050902), hsa-let-7b-5p (MIRT052278), hsa-mir-335-5p (MIRT016887)

    Block miRNA regulation of human, mouse, rat PER1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PER1 (see all 26):
    hsa-miR-4291 hsa-miR-4251 hsa-miR-1224-3p hsa-miR-1260b hsa-miR-29a hsa-miR-29c hsa-miR-4299 hsa-miR-486-3p
    SwitchGear 3'UTR luciferase reporter plasmidPER1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PER1
    Predesigned siRNA for gene silencing in human, mouse, rat PER1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PER1

    Clone
    Products:
         
    OriGene clones in human, mouse for PER1 (see all 9)
    OriGene ORF clones in mouse, rat for PER1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PER1 (NM_002616)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PER1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PER1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PER1
    Browse ESI BIO Cell Lines and PureStem Progenitors for PER1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PER1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PER1_HUMAN, O15534: Nucleus (By similarity). Cytoplasm (By similarity). Note=Mainly nuclear. 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 or by interaction with CSNK1E
    and/or phosphorylation which appears to mask the PER1 nuclear localization signal. Also translocated to the
    nucleus by CRY1 or CRY2 (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    extracellular2
    endoplasmic reticulum1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA--

    PER1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PER1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Circadian rhythm
    Circadian rhythm0.31
    Circadian Clock in Mammals0.31
    2Circadian Clock
    Circadian Clock0.66
    BMAL1-CLOCK/NPAS2 Activates Circadian Expression0.66
    3Circadian entrainment
    Circadian entrainment0.40
    4Influenza A
    Herpes simplex infection0.33
    5Selected targets of CREB1
    Selected targets of CREB1

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PER1
        HIF1Alpha Pathway
    Metabolic States and Circadian Oscillators
    Circadian Clock in Mammals

    2 BioSystems Pathways for PER1
        Diurnally regulated genes with circadian orthologs
    Circadian rhythm pathway

    2 Reactome Pathways for PER1
        Circadian Clock
    BMAL1:CLOCK,NPAS2 activates circadian gene expression


    3 Kegg Pathways  (Kegg details for PER1):
        Circadian rhythm
    Circadian entrainment
    Herpes simplex infection


    PER1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PER1: 
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat
              Circadian Rhythms in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PER1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PER1 (O155343 ENSP000003144204) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRY1Q165263, ENSP000000085274I2D: score=4 STRING: ENSP00000008527
    CSNK1DP487303, ENSP000003244644I2D: score=4 STRING: ENSP00000324464
    CSNK1EP496743, ENSP000003529294I2D: score=4 STRING: ENSP00000352929
    TIMELESSQ9UNS13, ENSP000002292014I2D: score=4 STRING: ENSP00000229201
    BTRCQ9Y2973, ENSP000003592064I2D: score=3 STRING: ENSP00000359206
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0007165signal transduction ----
    GO:0007623circadian rhythm TAS9333243

    PER1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PER1

    4 Novoseek inferred chemical compound relationships for PER1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    melatonin 42 5 16706855 (2), 14529560 (2), 17762827 (1)
    benzodiazepine 3.13 2 11139454 (1), 16313103 (1)
    lipid 0 3 17021251 (2), 14715703 (1)
    arginine 0 2 12598633 (1), 17715068 (1)



    PER1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PER1 gene: 
    NM_002616.2  

    Unigene Cluster for PER1:

    Period circadian clock 1
    Hs.445534  [show with all ESTs]
    Unigene Representative Sequence: NM_002616
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000317276(uc010cns.3 uc010vuq.2 uc002gkd.3) ENST00000581082
    ENST00000582719 ENST00000583677 ENST00000585284 ENST00000579098 ENST00000578089
    ENST00000578950 ENST00000354903(uc010vur.1) ENST00000583559 ENST00000581395
    ENST00000585095 ENST00000577424 ENST00000579203 ENST00000578223 ENST00000579065(uc010vus.1)
    ENST00000581703 ENST00000577253
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PER1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PER1 (see all 26):
    hsa-miR-4291 hsa-miR-4251 hsa-miR-1224-3p hsa-miR-1260b hsa-miR-29a hsa-miR-29c hsa-miR-4299 hsa-miR-486-3p
    SwitchGear 3'UTR luciferase reporter plasmidPER1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PER1
    Predesigned siRNA for gene silencing in human, mouse, rat PER1
    Clone
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    OriGene clones in human, mouse for PER1 (see all 9)
    OriGene ORF clones in mouse, rat for PER1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PER1 (NM_002616)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PER1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PER1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for PER1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PER1
      QuantiTect SYBR Green Assays in human, mouse, rat PER1
      QuantiFast Probe-based Assays in human, mouse, rat PER1

    Additional mRNA sequence: 

    AB002107.1 AB088477.1 AF022991.1 AK291061.1 AK295410.1 BC072458.1 BC137346.1 BC144593.1 
    BC150151.1 

    23 DOTS entries:

    DT.75171234  DT.99948107  DT.305584  DT.120986621  DT.91962177  DT.91945512  DT.91700408  DT.91753710 
    DT.99927972  DT.40305235  DT.120986618  DT.97779467  DT.100713998  DT.120986609  DT.120986626  DT.305583 
    DT.95208780  DT.97796573  DT.100714801  DT.100769930  DT.120986653  DT.91726409  DT.92429382 

    Selected AceView cDNA sequences (see all 253):

    CA445980 AI570880 AU105956 BM509159 CA306715 BQ925718 BM724696 BP351139 
    BI035908 BX953447 CD615186 BE530996 CA432949 AB002107 BQ787668 AL700704 
    BE615751 CA392770 BX459994 CB240629 AI743776 CA312405 CA430599 BI771107 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PER1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGTCCCTGG
    PER1 Expression
    About this image

    PER1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PER1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.445534

    UniProtKB/Swiss-Prot: PER1_HUMAN, O15534
    Tissue specificity: Widely expressed. Found in heart, brain, placenta, lung, liver, skeletal muscle, pancreas,
    kidney, spleen, thymus, prostate, testis, ovary and small intestine. Highest level in skeletal muscle. Low level
    in kidney

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PER1: 
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat
              Circadian Rhythms in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for PER1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PER1
    QuantiTect SYBR Green Assays in human, mouse, rat PER1
    QuantiFast Probe-based Assays in human, mouse, rat PER1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PER1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PER1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Per11 , 5 period homolog 1 (Drosophila)5
    period circadian clock 11
    87.75(n)1
    92(a)1
      11 (42.37 cM)5
    186261  NM_011065.41  NP_035195.21 
     690952175 
    lizard
    (Anolis carolinensis)
    Reptilia PER16
    period circadian clock 1
    58(a)
    1 ↔ 1
    GL343400.1(436411-458624)
    African clawed frog
    (Xenopus laevis)
    Amphibia per1-A2 period homolog 1 77.59(n)    AY340103.1 
    zebrafish
    (Danio rerio)
    Actinopterygii per1b6
    per1a6
    period homolog 1a (Drosophila)
    46(a)
    45(a)
    1 ↔ many
    1 ↔ many
    7(52277645-52301471) ENSDARG00000012499
    10(23012653-23028581) ENSDARG00000056885
    fruit fly
    (Drosophila melanogaster)
    Insecta per6
    period
    11(a)
    1 → many
    X(2579613-2586813)
    worm
    (Caenorhabditis elegans)
    Secernentea lin-426
    Protein LIN-42, isoform c (lin-42) mRNA, complete ...
    19(a)
    1 → many
    II(1233244-1244035) WBGene00018572


    ENSEMBL Gene Tree for PER1 (if available)
    TreeFam Gene Tree for PER1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PER1 gene
    PER32  PER22  
    2 SIMAP similar genes for PER1 using alignment to 12 protein entries:     PER1_HUMAN (see all proteins):
    PER2    PER3

    PER1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PER1 (see all 637)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0360404
    A colorectal cancer sample4--see VAR_0360402 S L mis40--------
    VAR_0360384
    A breast cancer sample4--see VAR_0360382 E Q mis40--------
    VAR_0360394
    A breast cancer sample4--see VAR_0360392 N S mis40--------
    rs1136937361,2
    C--8043332(+) GAACCC/TGGGAG 1 -- ds50010--------
    rs1173433761,2
    --8043382(+) CAGCTG/AGGTGA 1 -- ds50011Minor allele frequency- A:0.01NA 120
    rs1491204081,2
    --8043388(+) GGTGAC/TAGAGC 1 -- ds50010--------
    rs1133686021,2
    C--8043393(+) CAGAGC/TGAAAT 1 -- ds50010--------
    rs1478360371,2
    --8043445(+) CCCTCG/TAATAC 1 -- ds50010--------
    rs1826016281,2
    --8043463(+) CACCAC/TGGAGT 1 -- ds50010--------
    rs1413236521,2
    C--8043491(+) CCTTGA/GCCACC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for PER1 (8043788 - 8059824 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for PER1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2715610CNV Deletion23290073
    nsv1964CNV Insertion18451855
    nsv516242CNV Loss19592680
    nsv907658CNV Loss21882294
    nsv518983CNV Loss19592680
    nsv457661CNV Loss19166990
    nsv907657CNV Loss21882294
    nsv527475CNV Loss19592680
    nsv833353CNV Loss17160897
    nsv833352CNV Loss17160897

    Human Gene Mutation Database (HGMD): PER1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PER1
    DNA2.0 Custom Variant and Variant Library Synthesis for PER1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602260    OMIM disorders: --

    Selected diseases for PER1 (see all 39):    
    About MalaCards
    advanced sleep phase syndrome    delayed sleep phase syndrome    sleep disorder    autistic disorder
    bipolar i disorder    cocaine dependence    schizoaffective disorder    gastroenteritis
    attention deficit hyperactivity disorder    autism spectrum disorder    mood disorder    brain disease
    bipolar disorder    gingivitis    endometrial carcinoma    acute myeloid leukemia
    dementia    breast and colorectal cancer    cervical cancer    chronic lymphocytic leukemia


    PER1 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for PER1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    shock 27.6 1 14715703 (1)
    cancer 17.4 18 16678109 (3), 19926612 (3), 19916834 (3), 17660446 (2) (see all 8)
    endometrial cancer 8.7 1 15809976 (1)
    tumors 0 38 19926612 (4), 19916834 (4), 17971899 (3), 17699798 (3) (see all 11)

    Genetic Association Database (GAD): PER1
    Human Genome Epidemiology (HuGE) Navigator: PER1 (18 documents)

    Export disorders for PER1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PER1 gene, integrated from 10 sources (see all 190):
    (articles sorted by number of sources associating them with PER1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Rigui, a putative mammalian ortholog of the Drosophila period gene. (PubMed id 9323128)1, 2, 3 Sun Z.S.... Lee C.C. (Cell 1997)
    2. SCFbeta-TRCP controls clock-dependent transcription via casein kinase 1-dependent degradation of the mammalian period-1 (Per1) protein. (PubMed id 15917222)1, 2, 9 Shirogane T.... Harper J.W. (J. Biol. Chem. 2005)
    3. A silent polymorphism in the PER1 gene associates with extreme diurnal preference in humans. (PubMed id 17051316)1, 4, 9 Carpen J.D....Archer S.N. (J. Hum. Genet. 2006)
    4. Association of Per1 and Npas2 with autistic disorder: support for the clock genes/social timing hypothesis. (PubMed id 17264841)1, 4, 9 Nicholas B....Wimpory D.C. (Mol. Psychiatry 2007)
    5. Human clock, PER1 and PER2 polymorphisms: lack of association with cocaine dependence susceptibility and cocaine-induced paranoia. (PubMed id 17106427)1, 4, 9 Malison R.T....Gelernter J. (Psychiatr. Genet. 2006)
    6. Phosphorylation of clock protein PER1 regulates its circadian degradation in normal human fibroblasts. (PubMed id 14750904)1, 2, 9 Miyazaki K.... Ishida N. (Biochem. J. 2004)
    7. Differential association of circadian genes with mood disorders: CRY1 and NPAS2 are associated with unipolar major depression and CLOCK and VIP with bipolar disorder. (PubMed id 20072116)1, 4, 9 Soria V....Urretavizcaya M. (Neuropsychopharmacology 2010)
    8. Testing the circadian gene hypothesis in prostate cancer: a population-based case-control study. (PubMed id 19934327)1, 4, 9 Zhu Y....Stanford J.L. (Cancer Res. 2009)
    9. Suggestive evidence for association of the circadian genes PERIOD3 and ARNTL with bipolar disorder. (PubMed id 16528748)1, 4, 9 Nievergelt C.M....Kelsoe J.R. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2006)
    10. Circadian oscillation of a mammalian homologue of the Drosophila period gene. (PubMed id 9333243)1, 2, 9 Tei H....Sakaki Y. (Nature 1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5187 HGNC: 8845 AceView: PER1 Ensembl:ENSG00000179094 euGenes: HUgn5187
    ECgene: PER1 Kegg: 5187 H-InvDB: PER1

    (According to HUGE)
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    HUGE: KIAA0482

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PER1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PER1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PER1 gene:
    Search GeneIP for patents involving PER1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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