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PER1 period circadian clock 1 [ Homo sapiens (human) ]

Gene ID: 5187, updated on 5-Apr-2015
Official Symbol
PER1provided by HGNC
Official Full Name
period circadian clock 1provided by HGNC
Primary source
HGNC:HGNC:8845
See related
Ensembl:ENSG00000179094; HPRD:03774; MIM:602260; Vega:OTTHUMG00000178317
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PER; hPER; RIGUI
Summary
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]
Orthologs
See PER1 in MapViewer
Location:
17p13.1
Exon count:
24
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (8140470..8156405, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (8043788..8059723, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371522 Neighboring gene uncharacterized LOC105376799 Neighboring gene transfer RNA-Ser (CGA) 1-1 Neighboring gene transfer RNA-Thr (AGT) 4-1 Neighboring gene microRNA 6883 Neighboring gene vesicle-associated membrane protein 2 (synaptobrevin 2) Neighboring gene small nucleolar RNA, C/D box 118 Neighboring gene transmembrane protein 107

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • BMAL1:CLOCK,NPAS2 activates circadian gene expression, organism-specific biosystem (from REACTOME)
    BMAL1:CLOCK,NPAS2 activates circadian gene expression, organism-specific biosystemAs inferred from mouse, BMAL1:CLOCK (ARNTL:CLOCK) and BMAL1:NPAS2 (ARNTL:NPAS2) heterodimers bind to sequence elements (E boxes) in the promoters of target genes and enhance transcription (Gekakis et...
  • Circadian Clock, organism-specific biosystem (from REACTOME)
    Circadian Clock, organism-specific biosystemAt the center of the mammalian circadian clock is a negative transcription/translation-based feedback loop: The BMAL1:CLOCK/NPAS2 (ARNTL:CLOCK/NPAS2) heterodimer transactivates CRY and PER genes by b...
  • Circadian entrainment, organism-specific biosystem (from KEGG)
    Circadian entrainment, organism-specific biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
  • Circadian entrainment, conserved biosystem (from KEGG)
    Circadian entrainment, conserved biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
  • Circadian rhythm, organism-specific biosystem (from KEGG)
    Circadian rhythm, organism-specific biosystemCircadian rhythm is an internal biological clock, which enables to sustain an approximately 24-hour rhythm in the absence of environmental cues. In mammals, the circadian clock mechanism consists of ...
  • Circadian rhythm, conserved biosystem (from KEGG)
    Circadian rhythm, conserved biosystemCircadian rhythm is an internal biological clock, which enables to sustain an approximately 24-hour rhythm in the absence of environmental cues. In mammals, the circadian clock mechanism consists of ...
  • Circadian rhythm pathway, organism-specific biosystem (from Pathway Interaction Database)
    Circadian rhythm pathway, organism-specific biosystem
    Circadian rhythm pathway
  • Diurnally regulated genes with circadian orthologs, organism-specific biosystem (from WikiPathways)
    Diurnally regulated genes with circadian orthologs, organism-specific biosystemHuman genes regulated in the diurnal comparison with orthologues that display circadian regulation in mouse heart and liver (Panda 2002, Storch 2002), and SCN (Panda 2002). The 608 significantly regu...
  • Herpes simplex infection, organism-specific biosystem (from KEGG)
    Herpes simplex infection, organism-specific biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
  • Herpes simplex infection, conserved biosystem (from KEGG)
    Herpes simplex infection, conserved biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC88021

Gene Ontology Provided by GOA

Function Evidence Code Pubs
E-box binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
chromatin DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
signal transducer activity IEA
Inferred from Electronic Annotation
more info
 
transcription factor binding IEA
Inferred from Electronic Annotation
more info
 
transcription factor binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
circadian regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
circadian regulation of translation ISS
Inferred from Sequence or Structural Similarity
more info
 
circadian rhythm IEP
Inferred from Expression Pattern
more info
PubMed 
circadian rhythm TAS
Traceable Author Statement
more info
 
entrainment of circadian clock TAS
Traceable Author Statement
more info
PubMed 
entrainment of circadian clock by photoperiod ISS
Inferred from Sequence or Structural Similarity
more info
 
histone H3 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
histone H3 deacetylation ISS
Inferred from Sequence or Structural Similarity
more info
 
histone H4 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of I-kappaB kinase/NF-kappaB signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of JNK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of glucocorticoid receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
 
posttranscriptional regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of circadian rhythm ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cytokine production involved in inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of hair cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of p38MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of sodium ion transport ISS
Inferred from Sequence or Structural Similarity
more info
 
response to cAMP IEA
Inferred from Electronic Annotation
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
period circadian protein homolog 1
Names
period circadian protein homolog 1
Period, drosophila, homolog of
circadian clock protein PERIOD 1
circadian pacemaker protein RIGUI
hPER1
period homolog 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_002616.2NP_002607.2  period circadian protein homolog 1

    See proteins identical to NP_002607.2

    Status: REVIEWED

    Source sequence(s)
    AB002107, AB088477, AI952483, DA411574, DA835861
    Consensus CDS
    CCDS11131.1
    UniProtKB/Swiss-Prot
    O15534
    Related
    ENSP00000314420, OTTHUMP00000259088, ENST00000317276, OTTHUMT00000441481
    Conserved Domains (3) summary
    cd00130
    Location:360461
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam12114
    Location:10831231
    Period_C; Period protein 2/3C-terminal region
    pfam14598
    Location:360461
    PAS_11; PAS domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

    Range
    8140470..8156405
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256689.1XP_005256746.1  

    See proteins identical to XP_005256746.1

    UniProtKB/Swiss-Prot
    O15534
    Conserved Domains (3) summary
    cd00130
    Location:360461
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam12114
    Location:10831231
    Period_C; Period protein 2/3C-terminal region
    pfam14598
    Location:360461
    PAS_11; PAS domain
  2. XM_005256690.1XP_005256747.1  

    Conserved Domains (3) summary
    cd00130
    Location:360461
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam12114
    Location:10231171
    Period_C; Period protein 2/3C-terminal region
    pfam14598
    Location:360461
    PAS_11; PAS domain

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    8052563..8064533
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)