CSNK1E casein kinase 1 epsilon [Homo sapiens (human)] - Gene

Summary

Official Symbol: CSNK1Eprovided by HGNC
Official Full Name: casein kinase 1 epsilonprovided by HGNC
Primary source: HGNC:HGNC:2453
See related: Ensembl:ENSG00000213923 MIM:600863; AllianceGenome:HGNC:2453
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: CKIe; HCKIE; CKIepsilon
Summary: The protein encoded by this gene is a serine/threonine protein kinase and a member of the casein kinase I protein family, whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein is found in the cytoplasm as a monomer and can phosphorylate a variety of proteins, including itself. This protein has been shown to phosphorylate period, a circadian rhythm protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2014]
Expression: Ubiquitous expression in brain (RPKM 32.2), endometrium (RPKM 32.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (38290691..38318084, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (38754994..38782389, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (38686697..38714089, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CK1epsilon drives osteogenic differentiation of bone marrow mesenchymal stem cells via activating Wnt/beta-catenin pathway.
Title: CK1ε drives osteogenic differentiation of bone marrow mesenchymal stem cells via activating Wnt/β-catenin pathway.
Cytoplasmic CK1epsilon Protein Expression Is Correlated With Distant Metastasis and Survival in Patients With Melanoma.
Title: Cytoplasmic CK1ε Protein Expression Is Correlated With Distant Metastasis and Survival in Patients With Melanoma.
Novel Insights into the Biochemical Mechanism of CK1epsilon and its Functional Interplay with DDX3X.
Title: Novel Insights into the Biochemical Mechanism of CK1ε and its Functional Interplay with DDX3X.
The Daple-CK1epsilon complex regulates Dvl2 phosphorylation and canonical Wnt signaling.
Title: The Daple-CK1ε complex regulates Dvl2 phosphorylation and canonical Wnt signaling.
Casein kinase 1 epsilon facilitates cartilage destruction in osteoarthritis through JNK pathway.
Title: Casein kinase 1 epsilon facilitates cartilage destruction in osteoarthritis through JNK pathway.
CRISPR-mediated gene targeting of CK1delta/epsilon leads to enhanced understanding of their role in endocytosis via phosphoregulation of GAPVD1.
Title: CRISPR-mediated gene targeting of CK1δ/ε leads to enhanced understanding of their role in endocytosis via phosphoregulation of GAPVD1.
FENDRR reduces tumor invasiveness in prostate cancer PC-3 cells by targeting CSNK1E.
Title: FENDRR reduces tumor invasiveness in prostate cancer PC-3 cells by targeting CSNK1E.
Human Rad17 is constitutively phosphorylated in vivo on a C-terminal threonine, T670. Rad17-T670 is phosphorylated by casein kinase 1delta/epsilon.
Title: Human Rad17 C-terminal tail is phosphorylated by concerted action of CK1δ/ε and CK2 to promote interaction with the 9-1-1 complex.
LINC00673-v4 augmented the interaction between DDX3 and CK1epsilon and thus the phosphorylation of dishevelled, which subsequently activated WNT/beta-catenin signaling and consequently caused aggressiveness of lung adenocarcinoma (LAD)
Title: Long noncoding RNA LINC00673-v4 promotes aggressiveness of lung adenocarcinoma via activating WNT/β-catenin signaling.
This study supported the potential role of CSNK1E variants in epileptic encephalopathy susceptibility.
Title: A de novo pathogenic CSNK1E mutation identified by exome sequencing in family trios with epileptic encephalopathy.

Submit: New GeneRIF Correction See all GeneRIFs (73)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

CSNK1E_2280 (e-PCR)
- UniSTS:280627

D22S1252 (e-PCR)
- UniSTS:25932

D22S1551 (e-PCR)
- UniSTS:80257

RH78405 (e-PCR)
- UniSTS:29330

STS-R89850 (e-PCR)
- UniSTS:21996

Readthrough TPTEP2-CSNK1E

Readthrough gene: TPTEP2-CSNK1E, Included gene: TPTEP2

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine kinase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	TAS Traceable Author Statement more info	PubMed
involved_in canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in canonical Wnt signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to nerve growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in circadian behavior	IEA Inferred from Electronic Annotation more info
involved_in circadian regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein binding	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of amyloid-beta formation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of non-canonical Wnt signaling pathway	IC Inferred by Curator more info	PubMed
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization	IEA Inferred from Electronic Annotation more info
involved_in protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of circadian rhythm	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of protein localization	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in growth cone	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of ribonucleoprotein complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: casein kinase I isoform epsilon

NP_001885.1

EC 2.7.11.1

NP_689407.1

EC 2.7.11.1

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

NG_016707.2 RefSeqGene

Range

5651..32393

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001894.5 → NP_001885.1 casein kinase I isoform epsilon

See identical proteins and their annotated locations for NP_001885.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AB024597, BC013088, BU517079

UniProtKB/Swiss-Prot

P49674

UniProtKB/TrEMBL

Q53EZ1, Q5U045

Related

ENSP00000352929.3, ENST00000359867.7

Conserved Domains (1) summary

cd14125
Location:8 → 282

STKc_CK1_delta_epsilon; Catalytic domain of the Serine/Threonine protein kinases, Casein Kinase 1 delta and epsilon
NM_152221.3 → NP_689407.1 casein kinase I isoform epsilon

See identical proteins and their annotated locations for NP_689407.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer and predominant transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AL020993, BC006490, BC013088, BQ642398, BU517079, CF594072

UniProtKB/Swiss-Prot

P49674

UniProtKB/TrEMBL

Q53EZ1, Q5U045

Related

ENSP00000380044.1, ENST00000396832.6

Conserved Domains (1) summary

cd14125
Location:8 → 282

STKc_CK1_delta_epsilon; Catalytic domain of the Serine/Threonine protein kinases, Casein Kinase 1 delta and epsilon