ENSG00000049246


Homo sapiens

Features
Gene ID: ENSG00000049246
  
Biological name :PER3
  
Synonyms : P56645 / PER3 / period circadian regulator 3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p36.23
Gene start: 7784320
Gene end: 7845177
  
Corresponding Affymetrix probe sets: 1555130_at (Human Genome U133 Plus 2.0 Array)   1555131_a_at (Human Genome U133 Plus 2.0 Array)   1569701_at (Human Genome U133 Plus 2.0 Array)   221045_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000482093
Ensembl peptide - ENSP00000366755
Ensembl peptide - ENSP00000366764
Ensembl peptide - ENSP00000479223
Ensembl peptide - ENSP00000355031
NCBI entrez gene - 8863     See in Manteia.
OMIM - 603427
RefSeq - XM_017002738
RefSeq - XM_017002729
RefSeq - XM_017002730
RefSeq - XM_017002731
RefSeq - XM_017002732
RefSeq - XM_017002733
RefSeq - XM_017002734
RefSeq - XM_017002735
RefSeq - XM_017002736
RefSeq - XM_017002737
RefSeq - NM_001289861
RefSeq - NM_001289862
RefSeq - NM_001289863
RefSeq - NM_001289864
RefSeq - NM_016831
RefSeq - XM_005263524
RefSeq - XM_011542385
RefSeq - XM_011542390
RefSeq - XM_017002723
RefSeq - XM_017002724
RefSeq - XM_017002725
RefSeq - XM_017002726
RefSeq - XM_017002727
RefSeq - XM_017002728
RefSeq Peptide - NP_001276793
RefSeq Peptide - NP_001276790
RefSeq Peptide - NP_001276791
RefSeq Peptide - NP_001276792
RefSeq Peptide - NP_058515
swissprot - Q8TAR6
swissprot - P56645
swissprot - A2I2N5
swissprot - A0A087WV69
Ensembl - ENSG00000049246
  
Related genetic diseases (OMIM): 616882 - ?Advanced sleep phase syndrome, familial, 3, 616882
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 per3ENSDARG00000010519Danio rerio
 PER3ENSGALG00000000573Gallus gallus
 Per3ENSMUSG00000028957Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PER2 / O15055 / period circadian regulator 2ENSG0000013232634
PER1 / O15534 / period circadian regulator 1ENSG0000017909433


Protein motifs (from Interpro)
Interpro ID Name
 IPR000014  PAS domain
 IPR013655  PAS fold-3
 IPR015524  Period circadian protein 3
 IPR022728  Period circadian-like, C-terminal
 IPR035965  PAS domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007623 circadian rhythm IEA
 biological_processGO:0032922 circadian regulation of gene expression IEA
 biological_processGO:0045187 regulation of circadian sleep/wake cycle, sleep IEA
 biological_processGO:0048511 rhythmic process IEA
 biological_processGO:0050821 protein stabilization IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0019900 kinase binding IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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