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

Gene ID: 5187, updated on 27-Nov-2024

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; AllianceGenome:HGNC:8845
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
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Genomic context

See PER1 in Genome Data Viewer
Location:
17p13.1
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (8140472..8152404, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (8045861..8057819, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (8043790..8055722, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8161 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8162 Neighboring gene tRNA-Ser (anticodon CGA) 1-1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:8043207-8043885 Neighboring gene tRNA-Thr (anticodon AGT) 5-1 Neighboring gene microRNA 6883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8053229-8053876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8163 Neighboring gene Sharpr-MPRA regulatory region 8148 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:8057595-8058375 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8167 Neighboring gene vesicle associated membrane protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8168 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11671 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

Clone Names

  • MGC88021

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor binding IEA
Inferred from Electronic Annotation
more info
 
enables E-box binding IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables chromatin DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription cis-regulatory region binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables transcription corepressor binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in chromatin remodeling ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in circadian regulation of gene expression IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in circadian regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
involved_in circadian rhythm IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in entrainment of circadian clock TAS
Traceable Author Statement
more info
PubMed 
involved_in entrainment of circadian clock by photoperiod IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in entrainment of circadian clock by photoperiod ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of JNK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of canonical NF-kappaB signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of glucocorticoid receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neural retina development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in post-transcriptional regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of circadian rhythm ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of cytokine production involved in inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of hair cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of p38MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of sodium ion transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to cAMP IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 

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)

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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
    B2RPA8, B4DI49, D3DTR3, O15534
    UniProtKB/TrEMBL
    A2I2P6
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    8140472..8152404 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    8045861..8057819 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)