• Gene id: 5187

Gene Summary

• Gene Symbol: PER1   Gene   UCSC   Ensembl
• Aliases: PER, RIGUI, hPER
• Gene name: period circadian regulator 1
• Alternate names: period circadian protein homolog 1, Period, drosophila, homolog of, circadian clock protein PERIOD 1, circadian pacemaker protein RIGUI, hPER1, period circadian clock 1, period homolog 1,
• Gene location: 17p13.1 (8156359: 8140469)     Exons: 24     NC_000017.11
• Gene summary(Entrez): 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 locomoto
• OMIM: 602260

Protein Summary

• Protein general information: O15534  
  • Name: Period circadian protein homolog 1 (hPER1) (Circadian clock protein PERIOD 1) (Circadian pacemaker protein Rigui)
  • Length: 1290  
  • Mass: 136212
  • Tissue specificity: Widely expressed. Expressed in hair follicles (at protein level).Found in heart, brain, placenta, lung, liver, skeletal muscle, pancreas, kidney, spleen, thymus, prostate, testis, ovary and small intestine. Highest level in skeletal mu
• Sequence:

  MSGPLEGADGGGDPRPGESFCPGGVPSPGPPQHRPCPGPSLADDTDANSNGSSGNESNGHESRGASQRSSHSSSS
  GNGKDSALLETTESSKSTNSQSPSPPSSSIAYSLLSASSEQDNPSTSGCSSEQSARARTQKELMTALRELKLRLP
  PERRGKGRSGTLATLQYALACVKQVQANQEYYQQWSLEEGEPCSMDMSTYTLEELEHITSEYTLQNQDTFSVAVS
  FLTGRIVYISEQAAVLLRCKRDVFRGTRFSELLAPQDVGVFYGSTAPSRLPTWGTGASAGSGLRDFTQEKSVFCR
  IRGGPDRDPGPRYQPFRLTPYVTKIRVSDGAPAQPCCLLIAERIHSGYEAPRIPPDKRIFTTRHTPSCLFQDVDE
  RAAPLLGYLPQDLLGAPVLLFLHPEDRPLMLAIHKKILQLAGQPFDHSPIRFCARNGEYVTMDTSWAGFVHPWSR
  KVAFVLGRHKVRTAPLNEDVFTPPAPSPAPSLDTDIQELSEQIHRLLLQPVHSPSPTGLCGVGAVTSPGPLHSPG
  SSSDSNGGDAEGPGPPAPVTFQQICKDVHLVKHQGQQLFIESRARPQSRPRLPATGTFKAKALPCQSPDPELEAG
  SAPVQAPLALVPEEAERKEASSCSYQQINCLDSILRYLESCNLPSTTKRKCASSSSYTTSSASDDDRQRTGPVSV
  GTKKDPPSAALSGEGATPRKEPVVGGTLSPLALANKAESVVSVTSQCSFSSTIVHVGDKKPPESDIIMMEDLPGL
  APGPAPSPAPSPTVAPDPAPDAYRPVGLTKAVLSLHTQKEEQAFLSRFRDLGRLRGLDSSSTAPSALGERGCHHG
  PAPPSRRHHCRSKAKRSRHHQNPRAEAPCYVSHPSPVPPSTPWPTPPATTPFPAVVQPYPLPVFSPRGGPQPLPP
  APTSVPPAAFPAPLVTPMVALVLPNYLFPTPSSYPYGALQTPAEGPPTPASHSPSPSLPALAPSPPHRPDSPLFN
  SRCSSPLQLNLLQLEELPRAEGAAVAGGPGSSAGPPPPSAEAAEPEARLAEVTESSNQDALSGSSDLLELLLQED
  SRSGTGSAASGSLGSGLGSGSGSGSHEGGSTSASITRSSQSSHTSKYFGSIDSSEAEAGAARGGAEPGDQVIKYV
  LQDPIWLLMANADQRVMMTYQVPSRDMTSVLKQDRERLRAMQKQQPRFSEDQRRELGAVHSWVRKGQLPRALDVM
  ACVDCGSSTQDPGHPDDPLFSELDGLGLEPMEEGGGEQGSSGGGSGEGEGCEEAQGGAKASSSQDLAMEEEEEGR
  SSSSPALPTAGNCTS

• Structural information:
  • Protein Domains: (208..27-)
    (/note="PAS-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00140-)
    (348..41-)
    (/note="PAS-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00140-)
    (422..46-)
    (/note="PAC"-)
  • Interpro: IPR000014  IPR035965  IPR013655  IPR022728  
  • Prosite: PS50112
  • CDD: cd00130
  • PDB: 1UL6
  • PDBsum: 1UL6
  • DIP: 56603
  • STRING: ENSP00000314420
• Other Databases: GeneCards:  PER1  Malacards:  PER1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043153	entrainment of circadian clock by photoperiod	IBA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0032922	circadian regulation of gene expression	IBA	biological process
GO:0009416	response to light stimulus	IBA	biological process
GO:0008134	transcription factor binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0001222	transcription corepressor binding	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0043967	histone H4 acetylation	IDA	biological process
GO:0043966	histone H3 acetylation	IDA	biological process
GO:0032922	circadian regulation of gene expression	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:2000323	negative regulation of glucocorticoid receptor signaling pathway	ISS	biological process
GO:0097167	circadian regulation of translation	ISS	biological process
GO:0043153	entrainment of circadian clock by photoperiod	ISS	biological process
GO:0043124	negative regulation of I-kappaB kinase/NF-kappaB signaling	ISS	biological process
GO:0042634	regulation of hair cycle	IMP	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0002028	regulation of sodium ion transport	ISS	biological process
GO:1900744	regulation of p38MAPK cascade	ISS	biological process
GO:1900015	regulation of cytokine production involved in inflammatory response	ISS	biological process
GO:0070932	histone H3 deacetylation	ISS	biological process
GO:0046329	negative regulation of JNK cascade	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0042752	regulation of circadian rhythm	ISS	biological process
GO:0031490	chromatin DNA binding	ISS	molecular function
GO:0019900	kinase binding	IPI	molecular function
GO:0019900	kinase binding	IPI	molecular function
GO:0010608	posttranscriptional regulation of gene expression	ISS	biological process
GO:0007623	circadian rhythm	IEP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0009649	entrainment of circadian clock	TAS	biological process
GO:0007623	circadian rhythm	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0070932	histone H3 deacetylation	IEA	biological process
GO:0051591	response to cAMP	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0043966	histone H3 acetylation	IEA	biological process
GO:0042752	regulation of circadian rhythm	IEA	biological process
GO:0032922	circadian regulation of gene expression	IEA	biological process
GO:0031490	chromatin DNA binding	IEA	molecular function
GO:0019900	kinase binding	IEA	molecular function
GO:0010608	posttranscriptional regulation of gene expression	IEA	biological process
GO:0009416	response to light stimulus	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0007623	circadian rhythm	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:2000323	negative regulation of glucocorticoid receptor signaling pathway	IEA	biological process
GO:0097167	circadian regulation of translation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0043153	entrainment of circadian clock by photoperiod	IEA	biological process
GO:0002028	regulation of sodium ion transport	IEA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0070888	E-box binding	IDA	molecular function
GO:0032922	circadian regulation of gene expression	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04713	Circadian entrainment
hsa04710	Circadian rhythm

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq