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

    Gene ID: 1452, updated on 28-Oct-2024

    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 peptidyl-serine phosphorylation; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; and regulation of signal transduction. Located in cytoskeleton; cytosol; and nucleus. Part of beta-catenin destruction complex. Biomarker of Alzheimer's disease and inclusion body myositis. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in esophagus (RPKM 69.2), gall bladder (RPKM 47.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CSNK1A1 in Genome Data Viewer
    Location:
    5q32
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (149492982..149551439, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (150027795..150086185, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (148872545..148931002, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene cardiac mesoderm enhancer-associated non-coding RNA Neighboring gene Sharpr-MPRA regulatory region 1487 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:148812860-148813360 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:148820757-148821574 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:148821575-148822392 Neighboring gene Sharpr-MPRA regulatory region 14097 Neighboring gene microRNA 143 Neighboring gene microRNA 145 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:148837126-148837626 Neighboring gene Sharpr-MPRA regulatory region 12996 Neighboring gene uncharacterized LOC124901105 Neighboring gene NANOG hESC enhancer GRCh37_chr5:148878477-148879023 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82175 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82187 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:148920536-148920739 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:148924456-148925365 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:148927595-148928130 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:148929064-148930263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23375 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:148931159-148931952 Neighboring gene ribosomal protein L29 pseudogene 14 Neighboring gene Rho guanine nucleotide exchange factor 37 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16498 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23379 Neighboring gene Sharpr-MPRA regulatory region 10925 Neighboring gene MPRA-validated peak5533 silencer Neighboring gene RNA, U6 small nuclear 588, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23382 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:149011522-149012721 Neighboring gene uncharacterized LOC124901104

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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 chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    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 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 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

    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
    NP_001258670.1
    NP_001258671.1
    NP_001883.4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_001025105.3NP_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:16309
      STKc_CK1_alpha; Catalytic domain of the Serine/Threonine protein kinases, Casein Kinase 1 alpha
    2. NM_001271741.2NP_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:16281
      STKc_CK1_alpha; Catalytic domain of the Serine/Threonine protein kinases, Casein Kinase 1 alpha
    3. NM_001271742.2NP_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:1220
      PKc_like; Protein Kinases, catalytic domain
    4. NM_001892.6NP_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:16281
      STKc_CK1_alpha; Catalytic domain of the Serine/Threonine protein kinases, Casein Kinase 1 alpha

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      149492982..149551439 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      150027795..150086185 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)