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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PER1 Gene

protein-coding   GIFtS: 63
GCID: GC17M008043

period circadian clock 1

(Previous names: period (Drosophila) homolog 1, period homolog 1 (Drosophila)...)
(Previous symbol: PER)
 Explore 42 diseases affiliated with
PER1 via our new
 Human Malady Compendium 
Biological research products
for PER1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Period Circadian Clock 11 2     Period Homolog 1 (Drosophila)1
PER1 2 3 5     HPER1
RIGUI1 2 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
HPER11     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PER1:
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. Circadian expression in the suprachiasmatic nucleus
continues in constant darkness, and a shift in the light/dark cycle evokes a proportional shift of gene expression in
the suprachiasmatic nucleus. The specific function of this gene is not yet known. Alternative splicing has been
observed in this gene; however, these variants have not been fully described. (provided by RefSeq, Jul 2008)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010718.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PER1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: 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)
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O15534

  • PER1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002607.2  
    ENSEMBL proteins: 
     ENSP00000314420   ENSP00000462064   ENSP00000463054   ENSP00000346979   ENSP00000463369  
     ENSP00000464696   ENSP00000463385   ENSP00000462546   ENSP00000463661  
    Reactome Protein details: O15534
    Human Recombinant Protein Products: 
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    GenScript Custom Purified and Recombinant Proteins Services for PER1
    Novus Biologicals PER1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PER1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    PER1 for ontologies           About GeneDecksing



    PER1 Antibody Products: 
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    Uscn Antibodies for PER1
    ThermoFisher Antibody for PER1

    Assay Products for PER1: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for PER1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for PER1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PER1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR013655 PAS_fold_3
     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 families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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)
    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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PER1
    8/26 QIAGEN miScript miRNA 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
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PER1

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    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 ISS--
    GO:0004871signal transducer activity IEA--
    GO:0005515protein binding ----
    GO:0070888E-box binding IDA18411297


    PER1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for PER1: Per1tm1Brd Per1tm1Saco Per1tm1Drw
         10 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Per1):
     behavior/neurological  embryogenesis  growth/size  hematopoietic system  homeostasis/metabolism 
     mortality/aging  nervous system  renal/urinary system  reproductive system  skeleton 

    PER1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Circadian rhythm - mammal
    Circadian rhythm - mammal1.00
    Translocation of CRY:PER:Kinase Ternary Complex into the Nucleus0.26
    Circadian Clock0.41
    Formation of CRY:PER:Kinase Complex0.26
    Circadian Clock in Mammals0.40
    BMAL1:CLOCK/NPAS2 Activates Circadian Expression0.23
    2Expression of PERIOD-1
    Expression of PERIOD-11.00
    3Selected targets of CREB1
    Selected targets of CREB11.00
    4HIF1Alpha Pathway
    HIF1Alpha Pathway1.00
    5Circadian rhythm pathway
    Circadian rhythm pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for PER1
        Selected targets of CREB1

    3 Downloadable PowerPoint Slides of QIAGEN 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

    5/6        Reactome Pathways for PER1 (see all 6)
        Translocation of CRY:PER:Kinase Ternary Complex into the Nucleus
    Circadian Clock
    Expression of PERIOD-1
    Formation of CRY:PER:Kinase Complex
    BMAL1:CLOCK/NPAS2 Activates Circadian Expression


    1         Kegg Pathway  (Kegg details for PER1):
        Circadian rhythm - mammal


    PER1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PER1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    5/27 Interacting proteins for PER1 (O155343 ENSP000003144204) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0007623circadian rhythm TAS9333243
    GO:0009416response to light stimulus IEA--


    PER1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PER1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PER1
    4 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about PER1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/19 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

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    8/26 QIAGEN miScript miRNA 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
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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PER1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PER1

    Additional cDNA 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 

    24/253 AceView cDNA sequences (see all 253):

    BP351139 AI570880 BX459994 BE530996 AI743776 CD615186 BE615751 AU105956 
    CA306715 BM725880 AI273951 BQ938774 AU099669 BU149826 AB002107 CB240629 
    AB088477 CA445980 CA392770 BM724696 CA430599 BI771107 AI925738 BX103143 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PER1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGTCCCTGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    PER1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainThalamusBrain
    LimbLimb BudLimb
    Neural TubeDiencephalonNeural Tube
    Neural TubeTelencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See PER1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PER1

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including PER1: 
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              Circadian Rhythms in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat

    Primer
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    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PER1 gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia PER16
    --
    58(a)
    1 ↔ 1
    GL343400.1(436411-452899)
    African clawed frog
    (Xenopus laevis)
    Amphibia per1-A2 period homolog 1 77.59(n)    AY340103.1 
    zebrafish
    (Danio rerio)
    Actinopterygii per1b1 period homolog 1b (Drosophila) 58.55(n)
    56.42(a)
      406204  NM_212439.2  NP_997604.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta per6
    period
    14(a)
    1 → many
    X(2579613-2586813)
    worm
    (Caenorhabditis elegans)
    Secernentea lin-426
    abnormal cell LINeage family member (lin-42)
    17(a)
    1 → many
    II(1233957-1244042)


    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)
    About This Section
    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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/443 NCBI SNPs in PER1 are shown (see all 443    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    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
    --8043491(+) CCTTGA/GCCACC 1 -- ds50010--------
    rs1877189671,2
    --8043689(+) AGATGA/GCCCTG 1 -- ds50010--------
    rs25854081,2
    C,F,A,H,--8043753(+) CTCCCC/TTCACC 1 -- ds500120Minor allele frequency- T:0.29NS EA NA CSA WA 2345
    rs1926025321,2
    --8043793(+) TGGGCA/GTTTTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for PER1 (8043788 - 8059824 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for PER1
         2 CNVs: 4988 49944
    Human Gene Mutation Database (HGMD): PER1

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    (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.)
    About This Section

    PER1 for disorders           About GeneDecksing

    OMIM gene information: 602260    OMIM disorders: --

    20/42 diseases for PER1 (see all 42):    About MalaCards
    advanced sleep phase syndrome    attention deficit hyperactivity disorder    autism spectrum disorder    cocaine dependence
    bipolar i disorder    schizoaffective disorder    autistic disorder    chronic lymphocytic leukemia
    acute myeloid leukemia    epithelial ovarian cancer    mood disorder    lymphocytic leukemia
    sleep disorder    myeloid leukemia    endometrial cancer    bipolar disorder
    gastroenteritis    ovarian cancer    brain disease    endometrial carcinoma

    4 Novoseek 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)
    About This Section

    PubMed articles for PER1 gene, integrated from 9 sources (see all 178):
    (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. (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. (2005)
    3. Phosphorylation of clock protein PER1 regulates its circadian degradation in normal human fibroblasts. (PubMed id 14750904)1, 2, 9 Miyazaki K.... Ishida N. (2004)
    4. Circadian oscillation of a mammalian homologue of the Drosophila period gene. (PubMed id 9333243)1, 2, 9 Tei H....Sakaki Y. (1997)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    6. Human casein kinase Idelta phosphorylation of human circadian clock proteins period 1 and 2. (PubMed id 11165242)1, 2 Camacho F.... Keesler G.A. (2001)
    7. Association of structural polymorphisms in the human period3 gene with delayed sleep phase syndrome. (PubMed id 11306557)1, 4 Ebisawa T.... Yamauchi T. (2001)
    8. Phosphorylation and destabilization of human period I clock protein by human casein kinase I epsilon. (PubMed id 10790862)1, 2 Keesler G.A.... Yao Z. (2000)
    9. The human Per1 gene: genomic organization and promoter analysis of the first human orthologue of the Drosophila period gene. (PubMed id 10940553)1, 2 Taruscio D.... Falbo V. (2000)
    10. The human and mouse Period1 genes: five well-conserved E-boxes additively contribute to the enhancement of mPer1 transcription. (PubMed id 10857746)1, 2 Hida A.... Tei H. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 5187 HGNC: 8845 AceView: PER1 Ensembl:ENSG00000179094 euGenes: HUgn5187
    ECgene: PER1 Kegg: 5187 H-InvDB: PER1

    (According to HUGE)
    About This Section
    HUGE: KIAA0482

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    About This Section

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