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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
    mouse all
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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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