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Relevance to Autism

Genetic association has been found between the PER1 gene and autism in an AGRE cohort (Nicholas et al., 2007). In addition, rare mutations in the PER1 gene have been identified in individuals with ASD (Neale et al., 2012).

Molecular Function

This gene is a member of the Period family of genes and is expressed in a circad ian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in t he mammalian brain.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Association of Per1 and Npas2 with autistic disorder: support for the clock genes/social timing hypothesis.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Support
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
ASD
Highly Cited
Per1 and Per2 gene expression in the rat suprachiasmatic nucleus: circadian profile and the compartment-specific response to light.
Recent Recommendation
Laminin receptor 1: a novel protein interacting with human circadian clock protein, hPer1.
Recent Recommendation
Intercellular coupling confers robustness against mutations in the SCN circadian clock network.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN193R001 
 missense_variant 
 c.3802A>G 
 p.Met1268Val 
 De novo 
  
 Simplex 
 GEN193R002 
 stop_gained 
 c.2458C>T 
 p.Arg820Ter 
 Familial 
  
 Simplex 
 GEN193R003 
 frameshift_variant 
 c.2602del 
 p.Trp868GlyfsTer48 
 Familial 
  
 Simplex 
 GEN193R004 
 missense_variant 
 c.1114G>A 
 p.Asp372Asn 
 Familial 
  
 Simplex 
 GEN193R005 
 missense_variant 
 c.232G>T 
 p.Gly78Cys 
 Familial 
  
 Simplex 
 GEN193R006 
 missense_variant 
 c.454G>C 
 p.Glu152Gln 
 Familial 
  
 Simplex 
 GEN193R007 
 stop_gained 
 c.2506C>T 
 p.Arg836Ter 
 De novo 
  
 Multiplex 
 GEN193R008 
 synonymous_variant 
 c.3864C>T 
 p.Cys1288%3D 
 De novo 
  
  
 GEN193R009 
 inframe_deletion 
 c.3322_3348del 
 p.Ala1108_Glu1116del 
 De novo 
  
  
 GEN193R010 
 missense_variant 
 c.934C>T 
 p.Arg312Trp 
 De novo 
  
 Simplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN193C001 
 intron_variant 
 rs885747 
 c.1498-38C>G 
 C/G 
 AGRE 
 Discovery 
 GEN193C002 
 downstream_gene_variant 
 rs6416892 
  
 C to A 
 AGRE 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
17
Deletion-Duplication
 29
 
17
Duplication
 2
 
17
Duplication
 8
 
17
Duplication
 1
 
17
Duplication
 3
 
17
Deletion-Duplication
 5
 
17
Duplication
 1
 
17
Duplication
 1
 

Model Summary

Complementary roles of genes in mouse clock mechanism.

References

Type
Title
Author, Year
Primary
Nonredundant roles of the mPer1 and mPer2 genes in the mammalian circadian clock.

M_PER1_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Homologous recombination to replace 4.3 kb genomic region encompassing 15 of the 23 exons onf the Per1 gene with an Hprt minigene.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Specified
Genetic Background: C57BL/6Tyrc-Brd x 129S7
ES Cell Line: AB2.2
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_PER1_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Circadian rhythm1
Decreased
Description: Decreased circadian rhythm
Exp Paradigm: Monitoring wheel-running activity to 4 hr light and 4 hr dark cycle after entraining to 12 hr light/12 hr dark cycle
 Running wheel test
 Unreported
Circadian rhythm1
Decreased
Description: Decreased average circadian period; increased variability in circadian period length
Exp Paradigm: Monitoring wheel-running activity in constant darkness after entraining the mouse to 12 hr light/12 hr dark cycle
 Running wheel test
 Unreported
Protein expression level evidence1
Increased
Description: Increased expression of per1 protein; circadian pattern persists
Exp Paradigm: Per2 protein expression
 Western blot
 Unreported
Protein expression level evidence1
Decreased
Description: Absence of per1 protein expression
Exp Paradigm: Per1 protein expression
 Western blot
 Unreported
General characteristics1
 No change
 General observations
 Unreported
Gene expression1
 No change
 In situ hybridization (ish)
 Unreported
Gene expression1
 No change
 In situ hybridization (ish)
 Unreported
Regulation of gene expression1
 No change
 Northern blot
 Unreported
Regulation of gene expression1
 No change
 Gene expression microarray
 Unreported
 Not Reported: Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior





Download PER1's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
AP2M1 adaptor-related protein complex 2, mu 1 subunit 1173 Q96CW1 IP; LC-MS/MS
Huttlin EL , et al. 2015
ARHGAP25 Rho GTPase-activating protein 25 9938 P42331-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
ARNTL2 aryl hydrocarbon receptor nuclear translocator-like 2 56938 Q8WYA1 IP; LC-MS/MS
Huttlin EL , et al. 2015
BBS7 Bardet-Biedl syndrome 7 55212 Q8IWZ6 IP; LC-MS/MS
Huttlin EL , et al. 2015
C7ORF60 chromosome 7 open reading frame 60 154743 Q1RMZ1 IP; LC-MS/MS
Huttlin EL , et al. 2015
CCDC57 coiled-coil domain containing 57 284001 Q2TAC2 Y2H
Corominas R , et al. 2014
CkIIalpha Casein kinase II alpha subunit 48448 A4V2B8 IP/WB
Top D , et al. 2016
CRY1 cryptochrome 1 (photolyase-like) 1407 A2I2P0 IP; LC-MS/MS
Huttlin EL , et al. 2015
CSNK1D casein kinase 1, delta 1453 P48730 in vivo kinase assay; IP/WB
Camacho F , et al. 2001
CSNK1D casein kinase 1, delta 1453 P48730 IP; LC-MS/MS
Huttlin EL , et al. 2015
CSNK1E casein kinase 1, epsilon 1454 P49674 LC-MS/MS
Varjosalo M , et al. 2013
CSNK1E casein kinase 1, epsilon 1454 P49674 IP; LC-MS/MS
Huttlin EL , et al. 2015
DQX1 ATP-dependent RNA helicase DQX1 165545 Q8TE96-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
FAM65B family with sequence similarity 65, member B 9750 Q9Y4F9 Y2H
Wang J , et al. 2011
GFOD1 glucose-fructose oxidoreductase domain containing 1 54438 Q9NXC2 IP; LC-MS/MS
Huttlin EL , et al. 2015
GPR156 Probable G-protein coupled receptor 156 165829 Q8NFN8 IP; LC-MS/MS
Huttlin EL , et al. 2015
HDAC1 histone deacetylase 1 3065 Q13547 GST; In vivo acetylation assay; in vitro kinase assay; AMPK kinase assay; IP/WB
Lin YY , et al. 2012
HDAC2 histone deacetylase 2 3066 Q92769 GST; In vivo acetylation assay; in vitro kinase assay; AMPK kinase assay; IP/WB
Lin YY , et al. 2012
KBTBD5 kelch-like family member 40 131377 Q2TBA0 IP; LC-MS/MS
Huttlin EL , et al. 2015
KBTBD7 kelch repeat and BTB (POZ) domain containing 7 84078 Q8WVZ9 IP; LC-MS/MS
Huttlin EL , et al. 2015
NXF2 Nuclear RNA export factor 2 56001 Q9GZY0 IP; LC-MS/MS
Huttlin EL , et al. 2015
PDDC1 Parkinson disease 7 domain containing 1 347862 Q8NB37 IP; LC-MS/MS
Huttlin EL , et al. 2015
QPRT Nicotinate-nucleotide pyrophosphorylase [carboxylating] 23475 Q15274 IP; LC-MS/MS
Huttlin EL , et al. 2015
RBPMS RNA binding protein with multiple splicing 11030 Q93062 Y2H
Corominas R , et al. 2014
RBPMS RNA binding protein with multiple splicing 11030 Q93062 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
sgg shaggy 31248 A4V3W1 IP/WB
Top D , et al. 2016
SIRT1 sirtuin 1 23411 A8K128 GST; In vivo acetylation assay; in vitro kinase assay; AMPK kinase assay; IP/WB
Lin YY , et al. 2012
SIRT5 NAD-dependent protein deacylase sirtuin-5, mitochondrial 23408 Q9NXA8 GST; In vivo acetylation assay; in vitro kinase assay; AMPK kinase assay; IP/WB
Lin YY , et al. 2012
SSSCA1 Sjogren syndrome/scleroderma autoantigen 1 10534 O60232 IP; LC-MS/MS
Huttlin EL , et al. 2015
TEX264 testis expressed 264 51368 Q53GI2 IP; LC-MS/MS
Huttlin EL , et al. 2015
tim timeless 33571 P49021 IP/WB
Top D , et al. 2016
TXNIP thioredoxin interacting protein 10628 Q9H3M7 IP; LC-MS/MS
Huttlin EL , et al. 2015
Arntl aryl hydrocarbon receptor nuclear translocator-like 11865 Q9WTL8 IP; LC-MS/MS
Duong HA , et al. 2011
Clock circadian locomotor output cycles kaput 12753 O08785 IP; LC-MS/MS
Duong HA , et al. 2011
Cry1 cryptochrome 1 (photolyase-like) 12952 P97784 IP; LC-MS/MS
Padmanabhan K , et al. 2012
Cry2 cryptochrome 2 (photolyase-like) 12953 Q9R194 IP; LC-MS/MS
Padmanabhan K , et al. 2012
Csnk1d casein kinase 1, delta 104318 Q9DC28 IP; LC-MS/MS
Duong HA , et al. 2011
Csnk1e casein kinase 1, epsilon 27373 Q9JMK2 IP; LC-MS/MS
Padmanabhan K , et al. 2012
Ddx5 DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 13207 Q8BTS0 IP; LC-MS/MS; IP/WB
Padmanabhan K , et al. 2012
Dhx9 DEAH (Asp-Glu-Ala-His) box polypeptide 9 13211 O70133 IP; LC-MS/MS; IP/WB
Padmanabhan K , et al. 2012
FMR1 fragile X mental retardation 1 14265 P35922 HITS-CLIP
Darnell JC , et al. 2011
MECP2 methyl CpG binding protein 2 (Rett syndrome) 4204 P51608 ChIP
Alvarez-Saavedra M , et al. 2010
Nono non-POU-domain-containing, octamer binding protein 53610 Q99K48 IP; LC-MS/MS
Duong HA , et al. 2011
Per2 period circadian clock 2 18627 O54943 IP; LC-MS/MS
Padmanabhan K , et al. 2012
Per3 period homolog 3 (Drosophila) 18628 O70361 IP; LC-MS/MS
Duong HA , et al. 2011
Sfpq splicing factor proline/glutamine-rich 71514 Q8VIJ6 IP; LC-MS/MS
Duong HA , et al. 2011

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