CSNK1A1 casein kinase 1 alpha 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CSNK1A1provided by HGNC
Official Full Name: casein kinase 1 alpha 1provided by HGNC
Primary source: HGNC:HGNC:2451
See related: Ensembl:ENSG00000113712 MIM:600505; AllianceGenome:HGNC:2451
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CK1; CK1a; CKIa; HLCDGP1; PRO2975; HEL-S-77p
Summary: Enables protein serine/threonine kinase activity. Involved in several processes, including negative regulation of canonical Wnt signaling pathway; peptidyl-serine phosphorylation; and positive regulation of proteasomal ubiquitin-dependent protein catabolic process. Located in centrosome; cytosol; and nuclear speck. Part of beta-catenin destruction complex. Colocalizes with keratin filament and mRNA cleavage and polyadenylation specificity factor complex. Biomarker of Alzheimer's disease and inclusion body myositis. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in esophagus (RPKM 69.2), gall bladder (RPKM 47.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q32

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (149492982..149551439, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (150027795..150086185, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (148872545..148931002, complement)

Chromosome 5 - NC_000005.10 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
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?

Casein Kinase 1 Phosphomimetic Mutations Negatively Impact Connexin-43 Gap Junctions in Human Pluripotent Stem Cell-Derived Cardiomyocytes.
Title: Casein Kinase 1 Phosphomimetic Mutations Negatively Impact Connexin-43 Gap Junctions in Human Pluripotent Stem Cell-Derived Cardiomyocytes.
CSNK1A1/CK1alpha suppresses autoimmunity by restraining the CGAS-STING1 signaling.
Title: CSNK1A1/CK1α suppresses autoimmunity by restraining the CGAS-STING1 signaling.
Selective CK1alpha degraders exert antiproliferative activity against a broad range of human cancer cell lines.
Title: Selective CK1α degraders exert antiproliferative activity against a broad range of human cancer cell lines.
Overexpressions of RHOA, CSNK1A1, DVL2, FZD8, and LRP5 genes enhance gastric cancer development in the presence of Helicobacter pylori.
Title: Overexpressions of RHOA, CSNK1A1, DVL2, FZD8, and LRP5 genes enhance gastric cancer development in the presence of Helicobacter pylori.
Casein kinase 1alpha mediates eryptosis: a review.
Title: Casein kinase 1α mediates eryptosis: a review.
CK1alpha upregulates the IFNAR1 expression to prompt the anti-HBV effect of type I IFN in hepatoma carcinoma cells.
Title: CK1α upregulates the IFNAR1 expression to prompt the anti-HBV effect of type I IFN in hepatoma carcinoma cells.
Decreased Expressions of CK1alpha and PTEN in Sinonasal Inverted Papilloma.
Title: Decreased Expressions of CK1α and PTEN in Sinonasal Inverted Papilloma.
Down-Regulation of Casein Kinase 1alpha Contributes to Endometriosis through Phosphatase and Tensin Homolog/Autophagy-Related 7-Mediated Autophagy.
Title: Down-Regulation of Casein Kinase 1α Contributes to Endometriosis through Phosphatase and Tensin Homolog/Autophagy-Related 7-Mediated Autophagy.
FAM83F regulates canonical Wnt signalling through an interaction with CK1alpha.
Title: FAM83F regulates canonical Wnt signalling through an interaction with CK1α.
Reprogramming of erythrocyte lifespan by NFkappaB-TNFalpha naphthoquinone antagonist beta-lapachone is regulated by calcium overload and CK1alpha.
Title: Reprogramming of erythrocyte lifespan by NFκB-TNFα naphthoquinone antagonist β-lapachone is regulated by calcium overload and CK1α.

Submit: New GeneRIF Correction See all GeneRIFs (67)

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

EBI GWAS Catalog

Description
Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

G16922 (e-PCR)
- UniSTS:72206

SGC32360 (e-PCR)
- UniSTS:99857

RH44394 (e-PCR)
- UniSTS:13853

RH18493 (e-PCR)
- UniSTS:17243

STS-N33567 (e-PCR)
- UniSTS:18537

RH79736 (e-PCR)
- UniSTS:89710

WI-17561 (e-PCR)
- UniSTS:62579

A002I44 (e-PCR)
- UniSTS:42107

RH66574 (e-PCR)
- UniSTS:69533

RH103896 (e-PCR)
- UniSTS:98221

X90945 (e-PCR)
- UniSTS:125883

SHGC-84529 (e-PCR)
- UniSTS:102872

SHGC-56742 (e-PCR)
- UniSTS:80350

RH91934 (e-PCR)
- UniSTS:89312

WI-11865 (e-PCR)
- UniSTS:44789

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein kinase activity	TAS Traceable Author Statement more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	EXP Inferred from Experiment more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein serine/threonine kinase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables protein serine/threonine kinase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in Golgi organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Wnt signaling pathway	TAS Traceable Author Statement more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to nutrient	IDA Inferred from Direct Assay more info	PubMed
involved_in intermediate filament cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of NLRP3 inflammasome complex assembly	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of canonical Wnt signaling pathway	IC Inferred by Curator more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptidyl-serine phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in peptidyl-serine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of Rho protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of TORC1 signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in viral protein processing	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
part_of beta-catenin destruction complex	IDA Inferred from Direct Assay more info	PubMed
part_of beta-catenin destruction complex	NAS Non-traceable Author Statement more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	ISS Inferred from Sequence or Structural Similarity more info
located_in cilium	TAS Traceable Author Statement more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
colocalizes_with keratin filament	IDA Inferred from Direct Assay more info	PubMed
located_in kinetochore	IEA Inferred from Electronic Annotation more info
part_of mRNA cleavage and polyadenylation specificity factor complex	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in spindle	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: casein kinase I isoform alpha

Names: CKI-alpha; clock regulator kinase; down-regulated in lung cancer; epididymis secretory sperm binding protein Li 77p

NP_001020276.1

EC 2.7.11.1

NP_001258670.1

EC 2.7.11.1

NP_001258671.1

EC 2.7.11.1

NP_001883.4

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.

mRNA and Protein(s)

NM_001025105.3 → NP_001020276.1 casein kinase I isoform alpha isoform 1

See identical proteins and their annotated locations for NP_001020276.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC021078, BC008717, BC021971, BU618830, DA144898, DQ082865

Consensus CDS

CCDS47304.1

UniProtKB/TrEMBL

V9HW00

Related

ENSP00000261798.6, ENST00000261798.10

Conserved Domains (1) summary

cd14128
Location:16 → 309

STKc_CK1_alpha; Catalytic domain of the Serine/Threonine protein kinases, Casein Kinase 1 alpha
NM_001271741.2 → NP_001258670.1 casein kinase I isoform alpha isoform 3

See identical proteins and their annotated locations for NP_001258670.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an in-frame internal exon and uses an alternate splice site, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.

Source sequence(s)

AC021078, AF218004, BC008717, BC009186, BU618830, DA144898

Consensus CDS

CCDS64291.1

UniProtKB/TrEMBL

V9HW00

Related

ENSP00000499757.1, ENST00000657001.1

Conserved Domains (1) summary

cd14128
Location:16 → 281

STKc_CK1_alpha; Catalytic domain of the Serine/Threonine protein kinases, Casein Kinase 1 alpha
NM_001271742.2 → NP_001258671.1 casein kinase I isoform alpha isoform 4

See identical proteins and their annotated locations for NP_001258671.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and lacks a portion of the 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (4) with a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC021078, AK293761, BC008717, BU618830, HY119498

UniProtKB/TrEMBL

B4DER9, B4E1D9

Related

ENSP00000427031.1, ENST00000515435.5

Conserved Domains (1) summary

cl21453
Location:1 → 220

PKc_like; Protein Kinases, catalytic domain
NM_001892.6 → NP_001883.4 casein kinase I isoform alpha isoform 2

See identical proteins and their annotated locations for NP_001883.4

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame internal exon, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AC021078, BC008717, BC009186, BU618830, DA144898, L37042

Consensus CDS

CCDS47303.1

UniProtKB/Swiss-Prot

D3DQG0, D3DQG1, P48729, Q4JJA0, Q5U046, Q5U047, Q6FGA2, Q71TU5, Q96HD2, Q9UDK3

UniProtKB/TrEMBL

V9HW00

Related

ENSP00000367074.2, ENST00000377843.8

Conserved Domains (1) summary

cd14128
Location:16 → 281

STKc_CK1_alpha; Catalytic domain of the Serine/Threonine protein kinases, Casein Kinase 1 alpha