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CSNK1G1 casein kinase 1 gamma 1 [ Homo sapiens (human) ]

Gene ID: 53944, updated on 3-Nov-2024

Summary

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Official Symbol
CSNK1G1provided by HGNC
Official Full Name
casein kinase 1 gamma 1provided by HGNC
Primary source
HGNC:HGNC:2454
See related
Ensembl:ENSG00000169118 MIM:606274; AllianceGenome:HGNC:2454
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
CK1gamma1
Summary
This gene encodes a member of the casein kinase I gene family. This family is comprised of serine/threonine kinases that phosphorylate acidic proteins such as caseins. The encoded kinase plays a role in cell cycle checkpoint arrest in response to stalled replication forks by phosphorylating Claspin. A mutation in this gene may be associated with non-syndromic early-onset epilepsy (NSEOE). [provided by RefSeq, Jul 2016]
Expression
Ubiquitous expression in testis (RPKM 6.6), thyroid (RPKM 4.2) and 25 other tissues See more
Orthologs
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Genomic context

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See CSNK1G1 in Genome Data Viewer
Location:
15q22.31
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (64165525..64356173, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (61972701..62165717, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (64457724..64648372, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9555 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9556 Neighboring gene Sharpr-MPRA regulatory region 7733 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9557 Neighboring gene sorting nexin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9559 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:64437862-64438378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9560 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6528 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9561 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:64445879-64446610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:64453780-64454344 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:64454578-64455078 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:64455079-64455579 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9565 Neighboring gene sorting nexin 22 Neighboring gene peptidylprolyl isomerase B Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:64538178-64538678 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:64538679-64539179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9566 Neighboring gene Sharpr-MPRA regulatory region 12494 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:64618290-64619150 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:64619151-64620010 Neighboring gene small nucleolar RNA SNORA48 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6531 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6532 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6533 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:64652953-64653179 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:64673301-64673811 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:64679750-64680250 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:64680251-64680751 Neighboring gene PCNA clamp associated factor Neighboring gene thyroid hormone receptor interactor 4 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:64722213-64722724 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:64722725-64723236 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:64736443-64737642 Neighboring gene uncharacterized LOC105370861

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Gene expression profiling of DMU-212-induced apoptosis and anti-angiogenesis in vascular endothelial cells. Miao Y, et al. Pharm Biol, 2016. PMID 26428916
  2. Molecular cloning, mapping and characterization of a human CK1gamma1 gene. Guo L, et al. Int J Mol Med, 2002 Aug. PMID 12119564
  3. Cloning, expression analysis and chromosome mapping of human casein kinase 1 gamma1 (CSNK1G1): identification of two types of cDNA encoding the kinase protein associated with heterologous carboxy-terminal sequences. Kusuda J, et al. Cytogenet Cell Genet, 2000. PMID 11124537
  4. Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Martin HC, et al. Hum Mol Genet, 2014 Jun 15. PMID 24463883, Free PMC Article
  5. Two novel phosphorylation sites on FKHR that are critical for its nuclear exclusion. Rena G, et al. EMBO J, 2002 May 1. PMID 11980723, Free PMC Article

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CK1gamma1 phosphorylates p65 and consequently promotes its degradation by ubiquitin E3 ligases CUL2 and COMMD1.
    Title: Casein kinase 1γ1 inhibits the RIG-I/TLR signaling pathway through phosphorylating p65 and promoting its degradation.
  2. casein kinase 1 gamma 1 phosphorylates claspin
    Title: Role for casein kinase 1 in the phosphorylation of Claspin on critical residues necessary for the activation of Chk1.
  3. A 1756 bp cDNA encoded human protein kinase CK1 (438 AA, mol wt 50.272 Da, isoelectric point of 9.37) mapping to chromosome 15q22.
    Title: Molecular cloning, mapping and characterization of a human CK1gamma1 gene.
Submit: New GeneRIF Correction

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)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag Casein kinase 1 gamma 1 reduces HIV-1 infectivity by affecting Gag processing PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: PCLAF

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
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 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 
Process Evidence Code Pubs
involved_in Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of canonical Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein phosphorylation IEA
Inferred from Electronic Annotation
more info
  
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 cytosol IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
casein kinase I isoform gamma-1
NP_001316534.1
NP_001316535.1
NP_001316536.1
NP_071331.2

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

  1. NG_051236.1 RefSeqGene

    Range
    5087..195735
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001329605.2 → NP_001316534.1  casein kinase I isoform gamma-1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate in-frame exon and uses an alternate splice site, both in the 3' coding region, compared to variant 1. The encoded isoform (2) is longer and contains a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK225960, BE644696
    Consensus CDS
    CCDS86465.1
    UniProtKB/TrEMBL
    A0A0U1RQY7, U3KQB3
    Related
    ENSP00000475724.1, ENST00000607537.6

  2. NM_001329606.2 → NP_001316535.1  casein kinase I isoform gamma-1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Both variants 1 and 4 encode the same isoform (1).
    Source sequence(s)
    AC087632, AC100840, AC110054
    Consensus CDS
    CCDS10192.2
    UniProtKB/Swiss-Prot
    Q5JPH1, Q96AE9, Q9HCP0, Q9HCP1
    UniProtKB/TrEMBL
    A0A0U1RQY7
    Related
    ENSP00000489165.1, ENST00000635142.1
    Conserved Domains (2) summary
    cd14126
    Location:43 → 331
    STKc_CK1_gamma; Catalytic domain of the Serine/Threonine protein kinase, Casein Kinase 1 gamma
    pfam12605
    Location:331 → 392
    CK1gamma_C; Casein kinase 1 gamma C terminal

  3. NM_001329607.2 → NP_001316536.1  casein kinase I isoform gamma-1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region compared to variant 1. The encoded isoform (3) contains a longer and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC087632, AC100840, AC110054
    Consensus CDS
    CCDS86464.1
    UniProtKB/TrEMBL
    A0A0U1RQY7, Q8IXA3, U3KQN9
    Related
    ENSP00000476088.2, ENST00000561349.6
    Conserved Domains (2) summary
    cd14126
    Location:43 → 331
    STKc_CK1_gamma; Catalytic domain of the Serine/Threonine protein kinase, Casein Kinase 1 gamma
    pfam12605
    Location:331 → 392
    CK1gamma_C; Casein kinase 1 gamma C terminal

  4. NM_022048.5 → NP_071331.2  casein kinase I isoform gamma-1 isoform 1

    See identical proteins and their annotated locations for NP_071331.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the shortest isoform (1). Both variants 1 and 4 encode the same isoform (1).
    Source sequence(s)
    AC100840, AL832551, BC077731, BE644696, DB094870
    Consensus CDS
    CCDS10192.2
    UniProtKB/Swiss-Prot
    Q5JPH1, Q96AE9, Q9HCP0, Q9HCP1
    UniProtKB/TrEMBL
    A0A0U1RQY7
    Related
    ENSP00000305777.7, ENST00000303052.13
    Conserved Domains (2) summary
    cd14126
    Location:43 → 331
    STKc_CK1_gamma; Catalytic domain of the Serine/Threonine protein kinase, Casein Kinase 1 gamma
    pfam12605
    Location:331 → 392
    CK1gamma_C; Casein kinase 1 gamma C terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    64165525..64356173 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    61972701..62165717 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HCP0.1 GenPept UniProtKB/Swiss-Prot:Q9HCP0

Gene LinkOut

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