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PER3 period circadian regulator 3 [ Homo sapiens (human) ]

Gene ID: 8863, updated on 25-Nov-2019

Summary

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Official Symbol
PER3provided by HGNC
Official Full Name
period circadian regulator 3provided by HGNC
Primary source
HGNC:HGNC:8847
See related
Ensembl:ENSG00000049246 MIM:603427
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
GIG13; FASPS3
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 have been linked to sleep disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014]
Expression
Ubiquitous expression in thyroid (RPKM 14.6), fat (RPKM 11.2) and 24 other tissues See more
Orthologs
mouse all

Genomic context

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See PER3 in Genome Data Viewer
Location:
1p36.23
Exon count:
25
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (7784187..7845181)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (7844413..7905241)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene calmodulin binding transcription activator 1 Neighboring gene uncharacterized LOC105376689 Neighboring gene vesicle associated membrane protein 3 Neighboring gene tRNA-undetermined (NNN) 4-1 Neighboring gene urotensin 2 Neighboring gene TNF receptor superfamily member 9

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Role of the clock gene Period3 in the human cell-autonomous circadian clock. Matsumura R, et al. Genes Cells, 2019 Feb. PMID 30575220
  2. PER3 gene regulation of sleep-wake behavior as a function of latitude. Leocadio-Miguel MA, et al. Sleep Health, 2018 Dec. PMID 30442327
  3. Daytime Sleep Disturbance in Night Shift Work and the Role of PERIOD3. Cheng P, et al. J Clin Sleep Med, 2018 Mar 15. PMID 29510794, Free PMC Article
  4. PER3 VNTR polymorphism in Multiple Sclerosis: A new insight to impact of sleep disturbances in MS. Golalipour M, et al. Mult Scler Relat Disord, 2017 Oct. PMID 29055480
  5. Is there a change of paradigm towards more effective treatment early in the course of apparent high-risk MS? Fernández Ó. Mult Scler Relat Disord, 2017 Oct. PMID 29055479

See all (136) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. genotype may play an important role in individual vulnerability to the different mechanisms of daytime sleep disturbance in night shift workers
    Title: Daytime Sleep Disturbance in Night Shift Work and the Role of <i>PERIOD3</i>.
  2. Loss of PER3 expression is associated with shortened circadian period length rather than a phase shift.
    Title: Role of the clock gene Period3 in the human cell-autonomous circadian clock.
  3. our results confirm that polymorphisms in PER3, a nonessential clock gene involved in regulating circadian period length, are linked to anxiety, supporting the previously suggested role of PER3 in regulating human mood
    Title: Circadian Clock Model Supports Molecular Link Between PER3 and Human Anxiety.
  4. Volunteers with the PER3 4/4 variant who live farther from the equator have a greater increase in their weekend sleep duration.
    Title: PER3 gene regulation of sleep-wake behavior as a function of latitude.
  5. This study showed that PER3(5/5) carriers had poorer cognitive performance (attention, executive function, semantic memory, and verbal fluency) and lower cortical integrity (structural and functional) than PER3(4/4).
    Title: Effects of PER3 clock gene polymorphisms on aging-related changes of the cerebral cortex.
  6. Study identified several CpG sites and specifically several CpGs in the PTPRS and PER3 genes differentially methylated between obese and non-obese children, suggesting a role for DNA methylation concerning development of childhood obesity.
    Title: PTPRS and PER3 methylation levels are associated with childhood obesity: results from a genome-wide methylation analysis.
  7. these findings suggest that rhythmic expression of the circadian clock gene PER3 is associated with the amount of daily physical activity and physical fitness in older adults
    Title: Positive association between physical activity and PER3 expression in older adults.
  8. PER3 polymorphisms links with chronotype and affective dimensions
    Title: ARNTL, CLOCK and PER3 polymorphisms - links with chronotype and affective dimensions.
  9. data suggest that, PER3(4/4) genotype may accelerate the course of disease in multiple sclerosis susceptible individuals especially in women
    Title: PER3 VNTR polymorphism in Multiple Sclerosis: A new insight to impact of sleep disturbances in MS.
  10. The impact of PER3 polymorphisms on sleep cycle and insomnia in older adults is reported.
    Title: Associations between period 3 gene polymorphisms and sleep- /chronotype-related variables in patients with late-life insomnia.
Submit: New GeneRIF Correction See all GeneRIFs (107)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Advanced sleep phase syndrome, familial, 3
MedGen: C4225169 OMIM: 616882 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
NHGRI GWA Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of period homolog 3 (Drosophila, PER3) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

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  • Circadian entrainment, organism-specific biosystem (from KEGG)
    Circadian entrainment, organism-specific biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
  • Circadian entrainment, conserved biosystem (from KEGG)
    Circadian entrainment, conserved biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
  • Circadian rhythm, organism-specific biosystem (from KEGG)
    Circadian rhythm, organism-specific biosystemCircadian rhythm is an internal biological clock, which enables to sustain an approximately 24-hour rhythm in the absence of environmental cues. In mammals, the circadian clock mechanism consists of ...
  • Circadian rhythm, conserved biosystem (from KEGG)
    Circadian rhythm, conserved biosystemCircadian rhythm is an internal biological clock, which enables to sustain an approximately 24-hour rhythm in the absence of environmental cues. In mammals, the circadian clock mechanism consists of ...
  • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
    Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
  • Herpes simplex infection, organism-specific biosystem (from KEGG)
    Herpes simplex infection, organism-specific biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
  • Herpes simplex infection, conserved biosystem (from KEGG)
    Herpes simplex infection, conserved biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
  • Melatonin metabolism and effects, organism-specific biosystem (from WikiPathways)
    Melatonin metabolism and effects, organism-specific biosystemMelatonin is an important regulator of circadian rythmus and influences also insulin secretion, immune function, retinal function and neuroprotection. The synthesis starts with the amino acid tryptop...

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
kinase binding IEA
Inferred from Electronic Annotation
more info
  
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 IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
circadian regulation of gene expression IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
entrainment of circadian clock by photoperiod IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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 IDA
Inferred from Direct Assay
more info
 PubMed 
protein stabilization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
regulation of circadian sleep/wake cycle, sleep IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
period circadian protein homolog 3
Names
cell growth-inhibiting gene 13 protein
circadian clock protein PERIOD 3
hPER3
period circadian clock 3
period circadian protein 3

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.

Genomic

  1. NG_046850.1 RefSeqGene

    Range
    5050..65802
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001289861.1 → NP_001276790.1  period circadian protein homolog 3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AK308303, AL157954, CN480408, Z98884
    Consensus CDS
    CCDS76097.1
    UniProtKB/Swiss-Prot
    P56645
    UniProtKB/TrEMBL
    A0A087WV69
    Related
    ENSP00000479223.1, ENST00000614998.4
    Conserved Domains (3) summary
    cd00130
    Location:285 → 377
    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:285 → 373
    PAS_3; PAS fold
    pfam12114
    Location:1064 → 1179
    Period_C; Period protein 2/3C-terminal region

  2. NM_001289862.1 → NP_001276791.1  period circadian protein homolog 3 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AB047686, AL157954, CN480408, HY151851, Z98884
    Consensus CDS
    CCDS72695.1
    UniProtKB/Swiss-Prot
    P56645
    Related
    ENSP00000482093.1, ENST00000613533.4
    Conserved Domains (3) summary
    cd00130
    Location:285 → 377
    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 ...
    pfam12114
    Location:1082 → 1195
    Period_C; Period protein 2/3C-terminal region
    cl25496
    Location:756 → 1066
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

  3. NM_001289863.2 → NP_001276792.1  period circadian protein homolog 3 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice junction at the 3' end of an exon and lacks an alternate in-frame segment compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AK307760, AL157954, HY151851, Z98884
    UniProtKB/Swiss-Prot
    P56645
    Conserved Domains (3) summary
    cd00130
    Location:285 → 377
    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:285 → 373
    PAS_3; PAS fold
    pfam12114
    Location:1057 → 1172
    Period_C; Period protein 2/3C-terminal region

  4. NM_001289864.2 → NP_001276793.1  period circadian protein homolog 3 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (5) is shorter at the N-terminus and lacks a single internal aa compared to isoform 1.
    Source sequence(s)
    AL157954, BC144137, HY151851, Z98884
    UniProtKB/Swiss-Prot
    P56645
    Conserved Domains (1) summary
    pfam12114
    Location:763 → 878
    Period_C; Period protein 2/3C-terminal region

  5. NM_016831.3 → NP_058515.1  period circadian protein homolog 3 isoform 4

    See identical proteins and their annotated locations for NP_058515.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses alternate in-frame splice junctions at three exons compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AL157954, HY151851, Z98884
    Consensus CDS
    CCDS89.1
    UniProtKB/Swiss-Prot
    P56645
    UniProtKB/TrEMBL
    A2I2N5
    Related
    ENSP00000355031.2, ENST00000361923.2
    Conserved Domains (3) summary
    cd00130
    Location:284 → 376
    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 ...
    pfam12114
    Location:1073 → 1186
    Period_C; Period protein 2/3C-terminal region
    cl25496
    Location:748 → 1057
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    7784187..7845181
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002734.1 → XP_016858223.1  period circadian protein homolog 3 isoform X16

  2. XM_017002727.1 → XP_016858216.1  period circadian protein homolog 3 isoform X10

  3. XM_024450612.1 → XP_024306380.1  period circadian protein homolog 3 isoform X19

    Conserved Domains (3) summary
    cd00130
    Location:110 → 202
    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 ...
    pfam12114
    Location:899 → 1012
    Period_C; Period protein 2/3C-terminal region
    cl25496
    Location:574 → 883
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

  4. XM_017002728.1 → XP_016858217.1  period circadian protein homolog 3 isoform X11

  5. XM_017002730.2 → XP_016858219.1  period circadian protein homolog 3 isoform X13

  6. XM_017002731.2 → XP_016858220.1  period circadian protein homolog 3 isoform X14

  7. XM_005263524.4 → XP_005263581.1  period circadian protein homolog 3 isoform X6

    Conserved Domains (3) summary
    cd00130
    Location:285 → 377
    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:285 → 373
    PAS_3; PAS fold
    pfam12114
    Location:1083 → 1192
    Period_C; Period protein 2/3C-terminal region

  8. XM_024450585.1 → XP_024306353.1  period circadian protein homolog 3 isoform X1

    Related
    ENSP00000366755.3, ENST00000377532.7
    Conserved Domains (3) summary
    cd00130
    Location:285 → 377
    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 ...
    pfam12114
    Location:1082 → 1195
    Period_C; Period protein 2/3C-terminal region
    cl25496
    Location:756 → 1066
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

  9. XM_017002733.2 → XP_016858222.1  period circadian protein homolog 3 isoform X16

  10. XM_017002735.2 → XP_016858224.1  period circadian protein homolog 3 isoform X17

  11. XM_024450611.1 → XP_024306379.1  period circadian protein homolog 3 isoform X18

    Conserved Domains (3) summary
    cd00130
    Location:110 → 202
    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 ...
    pfam12114
    Location:900 → 1013
    Period_C; Period protein 2/3C-terminal region
    cl28033
    Location:567 → 882
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

  12. XM_024450586.1 → XP_024306354.1  period circadian protein homolog 3 isoform X2

    Conserved Domains (3) summary
    cd00130
    Location:285 → 377
    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 ...
    pfam12114
    Location:1081 → 1194
    Period_C; Period protein 2/3C-terminal region
    cl25496
    Location:756 → 1065
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

  13. XM_024450587.1 → XP_024306355.1  period circadian protein homolog 3 isoform X5

    Conserved Domains (3) summary
    cd00130
    Location:285 → 377
    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 ...
    pfam12114
    Location:1075 → 1188
    Period_C; Period protein 2/3C-terminal region
    cl25496
    Location:749 → 1059
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

  14. XM_024450588.1 → XP_024306356.1  period circadian protein homolog 3 isoform X7

    Conserved Domains (3) summary
    cd00130
    Location:285 → 377
    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 ...
    pfam12114
    Location:1074 → 1187
    Period_C; Period protein 2/3C-terminal region
    cl25496
    Location:749 → 1058
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

  15. XM_017002723.2 → XP_016858212.1  period circadian protein homolog 3 isoform X3

  16. XM_017002724.2 → XP_016858213.1  period circadian protein homolog 3 isoform X4

  17. XM_017002726.2 → XP_016858215.1  period circadian protein homolog 3 isoform X8

  18. XM_024450590.1 → XP_024306358.1  period circadian protein homolog 3 isoform X9

    Conserved Domains (3) summary
    cd00130
    Location:284 → 376
    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 ...
    pfam12114
    Location:1073 → 1186
    Period_C; Period protein 2/3C-terminal region
    cl25496
    Location:748 → 1057
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

  19. XM_017002732.1 → XP_016858221.1  period circadian protein homolog 3 isoform X15

  20. XM_017002738.2 → XP_016858227.1  period circadian protein homolog 3 isoform X21

  21. XM_017002737.1 → XP_016858226.1  period circadian protein homolog 3 isoform X20

  22. XM_017002729.1 → XP_016858218.1  period circadian protein homolog 3 isoform X12

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P56645.4 GenPept UniProtKB/Swiss-Prot:P56645

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