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Relevance to Autism

Rare mutations involving the CSNK1D gene have been identified in individuals with ASD (Pinto et al., 2010).

Molecular Function

This gene is a member of the casein kinase I (CKI) gene family whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. It encodes an essential serine/threonine-protein kinase that regulates diverse cellular growth and survival processes including Wnt signaling, DNA repair and circadian rhythms.Two transcript variants encoding different isoforms have been found for this gene.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD
Support
ASD, ID
Support
Integrating de novo and inherited variants in 42
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN330R001 
 copy_number_loss 
  
  
 De novo 
  
 Simplex 
 GEN330R002 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN330R003 
 frameshift_variant 
 c.340del 
 p.Ser114ValfsTer16 
 Familial 
 Maternal 
 Multiplex 
 GEN330R004 
 missense_variant 
 c.379C>T 
 p.Arg127Trp 
 De novo 
  
  
 GEN330R005 
 missense_variant 
 c.672A>C 
 p.Lys224Asn 
 De novo 
  
 Simplex 
  et al.  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
17
Duplication
 1
 
17
Duplication
 1
 
17
Duplication
 1
 
17
Deletion-Duplication
 7
 
17
Duplication
 1
 
17
Duplication
 1
 
17
Duplication
 3
 
17
Deletion-Duplication
 5
 
17
Deletion-Duplication
 29
 

Model Summary

Important functional differences between Csnk1d and Csnk1e; Csnk1d plays an unexpectedly important role in maintaining the 24-h circadian cycle length.

References

Type
Title
Author, Year
Primary
Casein kinase 1 delta regulates the pace of the mammalian circadian clock.

M_CSNK1D_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: CSNK1D KO with deletion of exon 2 of the gene using Protamine-cre that is activated in the male germline, bred to homozygosity
Allele Type: Conditional loss-of-function
Strain of Origin: Not specified
Genetic Background: C57BL/6J
ES Cell Line: Not specified
Mutant ES Cell Line: Not specified
Model Source: Not specified

M_CSNK1D_1_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: CSNK1D heterozygous KO with deletion of exon 2 of the gene using Protamine-cre that is activated in the male germline
Allele Type: Conditional loss-of-function
Strain of Origin: Not specified
Genetic Background: C57BL/6J
ES Cell Line: Not specified
Mutant ES Cell Line: Not specified
Model Source: Not specified

M_CSNK1D_3_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional deletion of exon 2 of CSNK1D using Albumin-cre, specifically in the liver
Allele Type: Conditional loss-of-function
Strain of Origin: Not specified
Genetic Background: C57BL/6J
ES Cell Line: Not specified
Mutant ES Cell Line: Not specified
Model Source: Not specified

M_CSNK1D_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Size/growth1
Decreased
Description: Decreased body weight
Exp Paradigm: General observations
 General observations
 Unreported
Mortality/lethality1
Increased
Description: Increased perinatal lethality
Exp Paradigm: General observations
 General observations
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_CSNK1D_1_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Locomotor activity in diurnal cycle1
Increased
Description: Increased locomotor activity during the diurnal cycle indicated by longer free-running period
Exp Paradigm: Locomotor activity rhythm in light/dark cycle
 Running wheel test
 Unreported
Circadian rhythm1
 No change
 Running wheel test
 Unreported
Size/growth1
 No change
 General observations
 Unreported
 Not Reported: Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_CSNK1D_3_CKO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Circadian rhythm: protein expression periodicity1
Decreased
Description: Significant reduction in amplitude of bmal1, rev-erba, and dbp mrna profile transcript rhythmicity
Exp Paradigm: Real-time pcr from liver extracts
 Quantitative pcr (qrt-pcr)
 Unreported
Circadian rhythm: protein expression periodicity1
Decreased
Description: Decreased nuclear repressor complex rhythm indicated by increased levels of mper1, mcry1, and clock during subjective day
Exp Paradigm: Immunoprecipitation of nuclear protein extracts from liver
 Immunoprecipitation
 Unreported
Protein expression level evidence1
Increased
Description: Increased levels of nuclear mper1 and mper2 levels during subjective day (ct2 to ct6)
Exp Paradigm: Circadian protein expression
 Western blot
 Unreported
Circadian rhythm: protein expression periodicity1
 No change
 Quantitative pcr (qrt-pcr)
 Unreported
 Not Reported: Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior





Download CSNK1D's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
AKAP9 A kinase (PRKA) anchor protein (yotiao) 9 10142 Q99996 Y2H; IP/WB
Sillibourne JE , et al. 2002
AKAP9 A kinase (PRKA) anchor protein (yotiao) 9 10142 Q99996 IP; LC-MS/MS
Huttlin EL , et al. 2015
ANKRD49 ankyrin repeat domain 49 54851 Q8WVL7 IP; LC-MS/MS
Huttlin EL , et al. 2015
C7ORF45 Serine-rich single-pass membrane protein 1 136263 Q8WWF3 IP; LC-MS/MS
Huttlin EL , et al. 2015
CACNG2 Voltage-dependent calcium channel gamma-2 subunit 10369 Q9Y698 IP; LC-MS/MS
Huttlin EL , et al. 2015
CACNG5 calcium channel, voltage-dependent, gamma subunit 5 27091 Q9UF02 IP; LC-MS/MS
Huttlin EL , et al. 2015
CRY1 cryptochrome 1 (photolyase-like) 1407 A2I2P0 IP; LC-MS/MS
Huttlin EL , et al. 2015
CRY2 Cryptochrome-2 1408 Q49AN0-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
CSNK1E casein kinase 1, epsilon 1454 P49674 IP; LC-MS/MS
Huttlin EL , et al. 2015
DVL1 dishevelled, dsh homolog 1 (Drosophila) 1855 O14640 Y2H; IP/WB; in vitro kinase assay; in vivo kinase assay
Gao ZH , et al. 2002
DVL3 dishevelled, dsh homolog 3 (Drosophila) 1857 Q92997 Y2H
Rual JF , et al. 2005
DVL3 dishevelled, dsh homolog 3 (Drosophila) 1857 Q92997 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
FAM110B Protein FAM110B 90362 Q8TC76 IP; LC-MS/MS
Huttlin EL , et al. 2015
FAM199X family with sequence similarity 199, X-linked 139231 B0QYU2 IP; LC-MS/MS
Huttlin EL , et al. 2015
FAM83D family with sequence similarity 83, member D 81610 Q9H4H8 IP; LC-MS/MS
Huttlin EL , et al. 2015
FAM83H family with sequence similarity 83, member H 286077 Q6ZRV2 IP; LC-MS/MS
Huttlin EL , et al. 2015
FKBPL FK506 binding protein like 63943 Q9UIM3 IP; LC-MS/MS
Huttlin EL , et al. 2015
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
GAPVD1 GTPase activating protein and VPS9 domains 1 26130 B3KN67 IP; LC-MS/MS
Huttlin EL , et al. 2015
HMMR hyaluronan-mediated motility receptor (RHAMM) 3161 O75330 IP; LC-MS/MS
Huttlin EL , et al. 2015
HN1L hematological and neurological expressed 1-like 90861 Q9H910 Y2H
Vinayagam A , et al. 2011
HSPA8 heat shock 70kDa protein 8 3312 P11142 IP; LC-MS/MS
Huttlin EL , et al. 2015
KDR kinase insert domain receptor (a type III receptor tyrosine kinase) 3791 P35968 IP/WB; in vitro kinase assay
Shaik S , et al. 2012
LURAP1 leucine rich adaptor protein 1 541468 Q96LR2 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
MAF1 MAF1 homolog (S. cerevisiae) 84232 Q9H063 IP; LC-MS/MS
Huttlin EL , et al. 2015
MAPRE1 microtubule-associated protein, RP/EB family, member 1 22919 Q15691 GST; in vitro kinase assay
Zyss D , et al. 2011
MCC mutated in colorectal cancers 4163 P23508 IP; MS
Ewing RM , et al. 2007
MDM2 Mdm2, p53 E3 ubiquitin protein ligase homolog (mouse) 4193 Q00987 in vitro kinase assay; IP/WB
Inuzuka H , et al. 2010
NXF2 Nuclear RNA export factor 2 56001 Q9GZY0 IP; LC-MS/MS
Huttlin EL , et al. 2015
PDE4DIP phosphodiesterase 4D interacting protein 9659 Q5VU43 IP; LC-MS/MS
Huttlin EL , et al. 2015
PER1 period homolog 1 (Drosophila) 5187 O15534 in vivo kinase assay; IP/WB
Camacho F , et al. 2001
PER1 period homolog 1 (Drosophila) 5187 O15534 IP; LC-MS/MS
Huttlin EL , et al. 2015
PER2 period homolog 2 (Drosophila) 8864 O15055 in vivo kinase assay; IP/WB
Camacho F , et al. 2001
PPP1R14A protein phosphatase 1, regulatory (inhibitor) subunit 14A 94274 Q96A00 GST; in vitro kinase assay
Zemlickova E , et al. 2004
PRKAR2B protein kinase, cAMP-dependent, regulatory, type II, beta 5577 P31323 IP; LC-MS/MS
Huttlin EL , et al. 2015
RP2 retinitis pigmentosa 2 (X-linked recessive) 6102 O75695 IP; LC-MS/MS
Huttlin EL , et al. 2015
SHANK3 SH3 and multiple ankyrin repeat domains 3 85358 Q9BYB0 Y2H
Sakai Y , et al. 2011
SNX24 Sorting nexin-24 28966 Q9Y343-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
TDP1 tyrosyl-DNA phosphodiesterase 1 55775 B3KN41 IP; LC-MS/MS
Huttlin EL , et al. 2015
TRIM9 tripartite motif containing 9 114088 Q9C026 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
UBC ubiquitin C 7316 P63279 IP; MS
Danielsen JM , et al. 2010
VPS13B vacuolar protein sorting 13 homolog B (yeast) 157680 Q7Z7G8 IP; LC-MS/MS
Huttlin EL , et al. 2015
ZNF618 zinc finger protein 618 114991 Q5T7W0 IP; LC-MS/MS
Huttlin EL , et al. 2015
PER1 period homolog 1 (Drosophila) 18626 O35973 IP; LC-MS/MS
Duong HA , et al. 2011
Per3 period homolog 3 (Drosophila) 18628 O70361 IP/WB; in vivo kinase assay
Akashi M , et al. 2002
Rbfox1 RNA binding protein, fox-1 homolog (C. elegans) 1 268859 Q9JJ43 HITS-CLIP
Weyn-Vanhentenryck SM , et al. 2014
Snapin SNAP-associated protein 20615 Q9Z266 Y2H; IP/WB; in vitro kinase assay
Wolff S , et al. 2006
Arfgap1 ADP-ribosylation factor GTPase activating protein 1 246310 Q62848 in vitro kinase assay
Yu S and Roth MG 2002
BACE1 beta-site APP-cleaving enzyme 1 23621 P56817 in vitro kinase assay; in vivo kinase assay
Walter J , et al. 2001
CDK5 cyclin-dependent kinase 5 1020 Q00535 in vitro kinase assay
Sharma P , et al. 1999
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1499 Q9WU82 in vitro kinase assay
Amit S , et al. 2002
Gja1 gap junction protein, alpha 1 24392 P08050 Metabolic labeling with 32P; IP/WB; in vitro kinase assay
Cooper CD and Lampe PD 2002
SNCA synuclein, alpha (non A4 component of amyloid precursor) 6622 P37840 in vitro kinase assay
Okochi M , et al. 2000
Tp53 tumor protein p53 24842 P10361 in vitro kinase assay; in vivo kinase assay
Knippschild U , et al. 1998
FOXG1 forkhead box G1 373732 Q9YHC5 in vitro kinase assay; in vivo kinase assay
Regad T , et al. 2007

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