1. Gene
  2. PER1 - period circadian regulator 1 Gene

PER1 - period circadian regulator 1 Gene

Homo sapiens

Also known as PER; hPER; RIGUI

Gene ID: 5187 | Gene type: protein coding

About PER1

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:8,140,472-8,152,404 (from NCBI)

This gene has 19 transcripts (splice variants), 212 orthologues, 2 paralogues and is associated with 70 phenotypes. Ubiquitous expression in bone marrow (RPKM 31.1), ovary (RPKM 28.6) and 25 other tissues.

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]

PER1 Products(1)

mRNA Protein Name
NM_002616.3 NP_002607.2 period circadian protein homolog 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables E-box binding IDA
IDA: Inferred from direct assay
18411297 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
18411297 GOA
enables kinase binding IPI
IPI: Inferred from physical interaction
15917222 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
23503662 GOA
enables ubiquitin protein ligase binding IPI
IPI: Inferred from physical interaction
15917222 GOA
Biological Process GO Annotation Evidence Reference Source
involved in circadian regulation of gene expression IDA
IDA: Inferred from direct assay
18411297 GOA
involved in circadian rhythm IEP
IEP: Inferred from expression pattern
14645221 GOA
involved in regulation of hair cycle IMP
IMP: Inferred from mutant phenotype
24005054 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
24005054 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PER1 Protein Structure

PAS_11

PAS_11: PAS domain (360 - 461)

Period_C

Period_C: Period protein 2/3C-terminal region (1032 - 1214)

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  • 1290 a.a.
Protein Preferred Names Protein Names

period circadian protein homolog 1

Period, drosophila, homolog of

PER1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
PER1 O15534 FKBP1A Homo sapiens Q0VDC6 32814053
Intra
PER1 O15534 FKBP1A Homo sapiens Q0VDC6 32814053
Intra
PER1 O15534 FKBP1A Homo sapiens Q0VDC6 32814053
Intra
PER1 O15534 SARS1 Homo sapiens P49591 32814053
Intra
PER1 O15534 SARS1 Homo sapiens P49591 32814053
Intra
PER1 O15534 SARS1 Homo sapiens P49591 32814053
Intra
PER1 O15534 EIF2S3 Homo sapiens P41091 32814053
Intra
PER1 O15534 EIF2S3 Homo sapiens P41091 32814053
Intra
PER1 O15534 EIF2S3 Homo sapiens P41091 32814053
Intra
PER1 O15534 JPH3 Homo sapiens Q8WXH2 32814053
Intra
PER1 O15534 JPH3 Homo sapiens Q8WXH2 32814053
Intra
PER1 O15534 JPH3 Homo sapiens Q8WXH2 32814053
Intra
PER1 O15534 KIF1B Homo sapiens O60333-2 32814053
Intra
PER1 O15534 KIF1B Homo sapiens O60333-2 32814053
Intra
PER1 O15534 KIF1B Homo sapiens O60333-2 32814053
Intra
PER1 O15534 BAG6 Homo sapiens P46379-2 32814053
Intra
PER1 O15534 BAG6 Homo sapiens P46379-2 32814053
Intra
PER1 O15534 BAG6 Homo sapiens P46379-2 32814053
Intra
PER1 O15534 PLP1 Homo sapiens P60201-2 32814053
Intra
PER1 O15534 PLP1 Homo sapiens P60201-2 32814053
Intra
PER1 O15534 PLP1 Homo sapiens P60201-2 32814053
Intra
PER1 O15534 APBB2 Homo sapiens Q92870-2 32814053
Intra
PER1 O15534 APBB2 Homo sapiens Q92870-2 32814053
Intra
PER1 O15534 APBB2 Homo sapiens Q92870-2 32814053
Intra
PER1 O15534 ERN1 Homo sapiens O75460-2 32814053
Intra
PER1 O15534 ERN1 Homo sapiens O75460-2 32814053
Intra
PER1 O15534 ERN1 Homo sapiens O75460-2 32814053
Intra
PER1 O15534 ST13 Homo sapiens Q9P1I4 32814053
Intra
PER1 O15534 ST13 Homo sapiens Q9P1I4 32814053
Intra
PER1 O15534 ST13 Homo sapiens Q9P1I4 32814053
Intra
PER1 O15534 RAN Homo sapiens P62826 32814053
Intra
PER1 O15534 RAN Homo sapiens P62826 32814053
Intra
PER1 O15534 RAN Homo sapiens P62826 32814053
Intra
PER1 O15534 FGFR3 Homo sapiens P22607 32814053
Intra
PER1 O15534 FGFR3 Homo sapiens P22607 32814053
Intra
PER1 O15534 FGFR3 Homo sapiens P22607 32814053
Intra
PER1 O15534 HRAS Homo sapiens P01112 32814053
Intra
PER1 O15534 HRAS Homo sapiens P01112 32814053
Intra
PER1 O15534 HRAS Homo sapiens P01112 32814053
Intra
PER1 O15534 GSN Homo sapiens P06396 32814053
Intra
PER1 O15534 GSN Homo sapiens P06396 32814053
Intra
PER1 O15534 GSN Homo sapiens P06396 32814053
Intra
PER1 O15534 HSPB1 Homo sapiens P04792 32814053
Intra
PER1 O15534 HSPB1 Homo sapiens P04792 32814053
Intra
PER1 O15534 HSPB1 Homo sapiens P04792 32814053
Intra
PER1 O15534 HSPA2 Homo sapiens P54652 32814053
Intra
PER1 O15534 HSPA2 Homo sapiens P54652 32814053
Intra
PER1 O15534 HSPA2 Homo sapiens P54652 32814053
Intra
PER1 O15534 CCT7 Homo sapiens Q99832 32814053
Intra
PER1 O15534 CCT7 Homo sapiens Q99832 32814053
Intra
PER1 O15534 CCT7 Homo sapiens Q99832 32814053
Intra
PER1 O15534 NUPR1 Homo sapiens O60356 32814053
Intra
PER1 O15534 NUPR1 Homo sapiens O60356 32814053
Intra
PER1 O15534 NUPR1 Homo sapiens O60356 32814053
Intra
PER1 O15534 P4HB Homo sapiens P07237 32814053
Intra
PER1 O15534 P4HB Homo sapiens P07237 32814053
Intra
PER1 O15534 P4HB Homo sapiens P07237 32814053
Intra
PER1 O15534 PRPF40A Homo sapiens O75400-2 32814053
Intra
PER1 O15534 PRPF40A Homo sapiens O75400-2 32814053
Intra
PER1 O15534 PRPF40A Homo sapiens O75400-2 32814053
Intra
PER1 O15534 EEF1D Homo sapiens P29692-2 32814053
Intra
PER1 O15534 EEF1D Homo sapiens P29692-2 32814053
Intra
PER1 O15534 EEF1D Homo sapiens P29692-2 32814053
Intra
PER1 O15534 CASP6 Homo sapiens P55212 32814053
Intra
PER1 O15534 CASP6 Homo sapiens P55212 32814053
Intra
PER1 O15534 CASP6 Homo sapiens P55212 32814053
Intra
PER1 O15534 WFS1 Homo sapiens O76024 32814053
Intra
PER1 O15534 WFS1 Homo sapiens O76024 32814053
Intra
PER1 O15534 WFS1 Homo sapiens O76024 32814053
Intra
PER1 O15534 CRY1 Homo sapiens Q16526 28514442
Intra
PER1 O15534 CRY1 Homo sapiens Q16526 33961781
Intra
PER1 O15534 UBQLN1 Homo sapiens Q9UMX0 32814053
Intra
PER1 O15534 UBQLN1 Homo sapiens Q9UMX0 32814053
Intra
PER1 O15534 UBQLN1 Homo sapiens Q9UMX0 32814053
Intra
PER1 O15534 GFAP Homo sapiens P14136 32814053
Intra
PER1 O15534 GFAP Homo sapiens P14136 32814053
Intra
PER1 O15534 GFAP Homo sapiens P14136 32814053
Intra
PER1 O15534 GRN Homo sapiens P28799 32814053
Intra
PER1 O15534 GRN Homo sapiens P28799 32814053
Intra
PER1 O15534 GRN Homo sapiens P28799 32814053
Intra
PER1 O15534 PRPS1 Homo sapiens P60891 32814053
Intra
PER1 O15534 PRPS1 Homo sapiens P60891 32814053
Intra
PER1 O15534 PRPS1 Homo sapiens P60891 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Advanced Sleep Phase Syndrome

Fasps

Familial Advanced Sleep-Phase Syndrome

Advanced Sleep Phase Syndrome, Familial

Familial Advanced Sleep Phase Syndrome

Sleep Phase Syndrome, Advanced, Familial

Advanced Sleep-Phase Syndrome, Familial

Rem Sleep Behavior Disorder

Rapid Eye Movement Sleep Behavior Disorder

Rem Sleep Behaviour Disorder

Rapid Eye Movement Sleep Behaviour Disorder

Rem - [Rapid Eye Movement] Behaviour Disorder

Hypotrichosis 8

HYPT8

Lah3

Hypotrichosis, Localized, Autosomal Recessive 3

Woolly Hair, Autosomal Recessive 1, With Or Without Hypotrichosis

Autosomal Recessive Woolly Hair 1, With Or Without Hypotrichosis

Hypotrichosis Localized Autosomal Recessive 3

Woolly Hair Autosomal Recessive 1 With Or Without Hypotrichosis

ARWH1

Hypotrichosis, Type 8

Moebius Syndrome

Mobius Syndrome

Moebius Sequence

Oromandibular-Limb Hypogenesis Spectrum

Congenital Facial Diplegia

MBS

Moebius Congenital Oculofacial Paralysis

Absence Or Underdevelopment Of The 6th And 7th Cranial Nerves

Congenital Facial Diplegia Syndrome

Congenital Oculofacial Paralysis

Congenital Ophthalmoplegia And Facial Paresis

Moebius Spectrum

Möbius Sequence

Möbius Syndrome

Mobius Ii Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris PER1 VGNC VGNC:44420
Rattus norvegicus PER1 RGD RGD:727863
Bos taurus PER1 VGNC VGNC:32748
Mus musculus PER1 MGD MGI:1098283
Macaca mulatta PER1 VGNC VGNC:75942
Felis catus PER1 VGNC VGNC:68787