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FLASH GENE
Symbol PER1 contributors: mct - updated : 29-12-2016
HGNC name period homolog 1 (Drosophila)
HGNC id 8845
Location 17p13.1      Physical location : 8.043.788 - 8.055.753
Synonym name
  • circadian pacemaker protein RIGUI
  • period 1
  • period circadian protein 1
  • PER1/ETV6 fusion gene, included
  • Synonym symbol(s) KIAA0482, MGC88021, MGC9753, PER, RIGUI, hPER
    DNA
    TYPE functioning gene
    STRUCTURE 11.97 kb     23 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (TATA box)
    cytosine-phosphate-guanine/HTF
    Binding site   enhancer   cAMP
    text structure promoter with SP1 binding site, five E-boxes and cAMP response elements
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing 6600 - 875 - 1997 9323128
    also called Rigui 6-6
    23 splicing 4717 136.1 1290 - 1997 9323128
    also called Rigui 4-7
    - splicing 3000 - 798 - 1997 9323128
    also called Rigui 3
    EXPRESSION
    Rna function photoreceptor
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Endocrineneuroendocrinepituitarypars tuberalis  
     pancreas    
    Nervousbraindiencephalonhypothalamussuprachiasmatic nuclei 
     nervecranial nerve  highly
    Respiratoryrespiratory tracttrachea  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal  
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • basic helix-loop-helix (HLH)
  • two PAS dimerization domain
  • one PAS associated C terminal domain
  • mono polymer heteromer
    HOMOLOGY
    interspecies homolog to Drosophila period gene
    homolog to murine Rigui,Per
    Homologene
    FAMILY
  • basic helix loop helix family of transcription factors
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    text suprachiasmatic nucleus
    basic FUNCTION
  • plays a critical role in regulating the period length and maintaining the precision and stability of the period of circadian rhythms
  • required for GPI-phospholipase A2 activity, and encoding an evolutionary conserved component of the GPI anchor remodeling pathway
  • opposing actions of PER1 and CRY2 in the regulation of PER1 target gene expression in the liver and kidney
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS circadian
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimer with CLOCK
  • component of circadian clock systems
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • GNB2L1 interacting with PER1 (might act as a novel signal molecule to mediate or regulate the functions of PER1 through protein interaction)
  • interacted with the checkpoint proteins ATM and CHEK2
  • PER1 represses the activity of the circadian transcription factors ARNTL and CLOCK, either independently or together with CRYPTOCHROME (CRY)
  • KPNB1 interacts mainly with PER proteins and directs PER1/CRY1 nuclear transport in a circadian fashion
  • role for PER1 in the transcriptional regulation of SLC9A3 and SLC5A1 in the kidney
  • cell & other
    REGULATION
    activated by protein kinases A and C (PKA, PKC) and cAMP responsive element binding protein
    Other enhanced by binding of CLOCK-ARNT (BMAL1) to E-boxes
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in cancer patient samples
    tumoral     --other  
    deregulation in breast cancer not caused by genetic mutations but most probably by methylation of PER1 promoter
    tumoral     --low  
    in hepatocellular carcinomas, resulting in disturbance of circadian rhythm in hepatocellular carcinoma which may disrupt the control of the central pacemaker and benefit selective survival of cancerous cells
    Susceptibility
  • to extreme diurnal preference
  • Variant & Polymorphism other T2434C polymorphism in exon 18, a synonymous substitution, associated with extreme diurnal preference
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS