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

Gene ID: 5187, updated on 13-Mar-2020

Summary

Official Symbol
PER1provided by HGNC
Official Full Name
period circadian regulator 1provided by HGNC
Primary source
HGNC:HGNC:8845
See related
Ensembl:ENSG00000179094 MIM:602260
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]
Expression
Ubiquitous expression in bone marrow (RPKM 31.1), ovary (RPKM 28.6) and 25 other tissues See more
Orthologs

Genomic context

See PER1 in Genome Data Viewer
Location:
17p13.1
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (8140470..8156360, 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 LOC105376799 Neighboring gene tRNA-Ser (anticodon CGA) 1-1 Neighboring gene tRNA-Thr (anticodon AGT) 5-1 Neighboring gene microRNA 6883 Neighboring gene vesicle associated membrane protein 2 Neighboring gene transmembrane protein 107 Neighboring gene small nucleolar RNA, C/D box 118

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 proximal promoter 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 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription corepressor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
circadian regulation of gene expression IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
entrainment of circadian clock TAS
Traceable Author Statement
more info
PubMed 
entrainment of circadian clock by photoperiod IBA
Inferred from Biological aspect of Ancestor
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 by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II 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 by RNA polymerase II 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
 
response to light stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
period circadian protein homolog 1
Names
Period, drosophila, homolog of
circadian clock protein PERIOD 1
circadian pacemaker protein RIGUI
hPER1
period circadian clock 1
period homolog 1

NCBI Reference Sequences (RefSeq)

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_002616.3NP_002607.2  period circadian protein homolog 1

    See identical proteins and their annotated locations for NP_002607.2

    Status: REVIEWED

    Source sequence(s)
    AB002107, AB088477, DA411574, DA835861
    Consensus CDS
    CCDS11131.1
    UniProtKB/Swiss-Prot
    O15534
    Related
    ENSP00000314420.4, ENST00000317276.9
    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 ...
    pfam08447
    Location:373457
    PAS_3; PAS fold
    pfam12114
    Location:10831224
    Period_C; Period protein 2/3C-terminal region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    8140470..8156360 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256689.2XP_005256746.1  period circadian protein homolog 1 isoform X1

    See identical proteins and their annotated locations for XP_005256746.1

    UniProtKB/Swiss-Prot
    O15534
    Related
    ENSP00000462064.1, ENST00000581082.5
    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 ...
    pfam08447
    Location:373457
    PAS_3; PAS fold
    pfam12114
    Location:10831224
    Period_C; Period protein 2/3C-terminal region
  2. XM_005256690.1XP_005256747.1  period circadian protein homolog 1 isoform X2

    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 ...
    pfam08447
    Location:373457
    PAS_3; PAS fold
    pfam12114
    Location:10231164
    Period_C; Period protein 2/3C-terminal region
  3. XM_024450803.1XP_024306571.1  period circadian protein homolog 1 isoform X3

    Related
    ENSP00000346979.5, ENST00000354903.9
    Conserved Domains (1) summary
    pfam08447
    Location:373457
    PAS_3; PAS fold
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