PER3
Period circadian protein homolog 3
Also known as: PER3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P56645
- Gene
- PER3
- Ensembl
- ENSG00000049246
- Chromosome
- 1
- Canonical length
- 1201 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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 have been linked to sleep disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014]
Canonical amino-acid sequenceUniProt
1201 residues, UniProt reviewed canonical sequence.
>P56645|PER3
1 MPRGEAPGPG RRGAKDEALG EESGERWSPE FHLQRKLADS SHSEQQDRNR VSEELIMVVQ
61 EMKKYFPSER RNKPSTLDAL NYALRCVHSV QANSEFFQIL SQNGAPQADV SMYSLEELAT
121 IASEHTSKNT DTFVAVFSFL SGRLVHISEQ AALILNRKKD VLASSHFVDL LAPQDMRVFY
181 AHTARAQLPF WNNWTQRAAR YECAPVKPFF CRIRGGEDRK QEKCHSPFRI IPYLIHVHHP
241 AQPELESEPC CLTVVEKIHS GYEAPRIPVN KRIFTTTHTP GCVFLEVDEK AVPLLGYLPQ
301 DLIGTSILSY LHPEDRSLMV AIHQKVLKYA GHPPFEHSPI RFCTQNGDYI ILDSSWSSFV
361 NPWSRKISFI IGRHKVRTSP LNEDVFATKI KKMNDNDKDI TELQEQIYKL LLQPVHVSVS
421 SGYGSLGSSG SQEQLVSIAS SSEASGHRVE ETKAEQMTLQ QVYASVNKIK NLGQQLYIES
481 MTKSSFKPVT GTRTEPNGGG ECKTFTSFHQ TLKNNSVYTE PCEDLRNDEH SPSYQQINCI
541 DSVIRYLKSY NIPALKRKCI SCTNTTSSSS EEDKQNHKAD DVQALQAGLQ IPAIPKSEMP
601 TNGRSIDTGG GAPQILSTAM LSLGSGISQC GYSSTIVHVP PPETARDATL FCEPWTLNMQ
661 PAPLTSEEFK HVGLTAAVLS AHTQKEEQNY VDKFREKILS SPYSSYLQQE SRSKAKYSYF
721 QGDSTSKQTR SAGCRKGKHK RKKLPEPPDS SSSNTGSGPR RGAHQNAQPC CPSAASSPHT
781 SSPTFPPAAM VPSQAPYLVP AFPLPAATSP GREYAAPGTA PEGLHGLPLS EGLQPYPAFP
841 FPYLDTFMTV FLPDPPVCPL LSPSFLPCPF LGATASSAIS PSMSSAMSPT LDPPPSVTSQ
901 RREEEKWEAQ SEGHPFITSR SSSPLQLNLL QEEMPRPSES PDQMRRNTCP QTEYCVTGNN
961 GSESSPATTG ALSTGSPPRE NPSHPTASAL STGSPPMKNP SHPTASALST GSPPMKNPSH
1021 PTASTLSMGL PPSRTPSHPT ATVLSTGSPP SESPSRTGSA ASGSSDSSIY LTSSVYSSKI
1081 SQNGQQSQDV QKKETFPNVA EEPIWRMIRQ TPERILMTYQ VPERVKEVVL KEDLEKLESM
1141 RQQQPQFSHG QKEELAKVYN WIQSQTVTQE IDIQACVTCE NEDSADGAAT SCGQVLVEDS
1201 CLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PER3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.56
- Highest tissue expression
- 51 nTPM
Expression across tissuesHPA
Tissue
- retina: 51 nTPM
- cerebellum: 41 nTPM
- skeletal muscle: 26 nTPM
- liver: 23 nTPM
- salivary gland: 23 nTPM
- tongue: 22 nTPM
Single-cell type
- retinal bipolar cells: 806 nCPM
- rod photoreceptor cells: 444 nCPM
- müller glia: 437 nCPM
- retinal horizontal cells: 403 nCPM
- myonuclei: 369 nCPM
- bergmann glia: 355 nCPM
Immune cell
- MAIT T-cell: 1.7 nTPM
- gdT-cell: 1.3 nTPM
- memory CD8 T-cell: 1.3 nTPM
- non-classical monocyte: 1.2 nTPM
- T-reg: 1.2 nTPM
- intermediate monocyte: 0.7 nTPM
Brain region
- cerebellum: 110 nTPM
- white matter: 68 nTPM
- cerebral cortex: 50 nTPM
- pons: 47 nTPM
- thalamus: 46 nTPM
- basal ganglia: 45 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PER3.
Disease | AllUniProt
Conditions PER3 is implicated in, by any mechanism.
- Advanced sleep phase syndrome, familial, 3 (FASPS3) MIM:616882
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 262 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- See cases
- Methylcobalamin deficiency type cblE
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.84
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.11
- DepMap mean gene effect
- -0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- circadian regulation of gene expression
- entrainment of circadian clock by photoperiod
- negative regulation of transcription by RNA polymerase II
- protein stabilization
- regulation of circadian sleep/wake cycle, sleep
Molecular functions
- kinase binding
- transcription cis-regulatory region binding
- transcription corepressor binding
- ubiquitin protein ligase binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- PAS domain
- PAS fold 3
- Period circadian-like, C-terminal
- PAS domain superfamily
- Period circadian protein homolog 1-3, PAS-A domain
- Period circadian regulator
- Period circadian protein homolog PER 1-3, bHLH-like domain
- PAS fold
- Period circadian-like, C-terminal
- Period circadian protein homolog 3-like, PAS-A domain
- Period circadian protein homolog bHLH-like domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PER3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PER3 as an antibody target. Whether an autoantibody or antibody against PER3 could matter depends on whether native PER3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PER3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PER3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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