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

Period_C

0
200
400
600
800
1000
1200
1290 a.a.

Protein Preferred Names

Protein Names

period circadian protein homolog 1

Period, drosophila, homolog of

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-125145	AA92593		98.60%	Unkown
HY-N10987	Spiranthesol		/	Unkown
HY-RS10331	PER1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

Name
Email *

	Sorry, but the email address you supplied was invalid.