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    CDKL1 cyclin dependent kinase like 1 [ Homo sapiens (human) ]

    Gene ID: 8814, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CDKL1provided by HGNC
    Official Full Name
    cyclin dependent kinase like 1provided by HGNC
    Primary source
    HGNC:HGNC:1781
    See related
    Ensembl:ENSG00000100490 MIM:603441; AllianceGenome:HGNC:1781
    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
    P42; KKIALRE
    Summary
    This gene product is a member of a large family of CDC2-related serine/threonine protein kinases that accumulates primarily in the nucleus. [provided by RefSeq, Nov 2018]
    Expression
    Ubiquitous expression in kidney (RPKM 3.9), endometrium (RPKM 2.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CDKL1 in Genome Data Viewer
    Location:
    14q21.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (50326265..50397298, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (44532486..44603508, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (50792983..50864016, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:50605652-50606356 Neighboring gene SOS Ras/Rho guanine nucleotide exchange factor 2 Neighboring gene NANOG hESC enhancer GRCh37_chr14:50692526-50693052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8354 Neighboring gene MPRA-validated peak2154 silencer Neighboring gene L-2-hydroxyglutarate dehydrogenase Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:50766206-50766899 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5721 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8355 Neighboring gene microRNA 4504 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50802261-50802882 Neighboring gene Sharpr-MPRA regulatory region 14884 Neighboring gene distal membrane arm assembly component 2 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8357 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:50832542-50832707 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:50838021-50838522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:50838523-50839022 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:50863511-50864010 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 5 Neighboring gene zinc finger protein 678 pseudogene Neighboring gene uncharacterized LOC124903312

    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
    • 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. The distribution and biochemical properties of a Cdc2-related kinase, KKIALRE, in normal and Alzheimer brains. Yen SH, et al. J Neurochem, 1995 Dec. PMID 7595554
    2. Downregulation of CDKL1 suppresses neuroblastoma cell proliferation, migration and invasion. Li W, et al. Cell Mol Biol Lett, 2019. PMID 30891073, Free PMC Article
    3. CDKL1 promotes the chemoresistance of human oral squamous cell carcinoma cells to hydroxycamptothecin. Li K, et al. Mol Cell Probes, 2019 Apr. PMID 30802495
    4. A role for Cdkl1 in the development of gastric cancer. Sun W, et al. Acta Oncol, 2012 Jul. PMID 22369697
    5. Evaluation of cyclin-dependent kinase-like 1 expression in breast cancer tissues and its regulation in cancer cell growth. Tang L, et al. Cancer Biother Radiopharm, 2012 Aug. PMID 22804458

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Egr1 inhibits colon cancer cell proliferation, migration and invasion via regulating CDKL1 at the transcriptional level.
      Title: Egr‑1 inhibits colon cancer cell proliferation, migration and invasion via regulating CDKL1 at the transcriptional level.
    2. Chk1 directly interacts with MYPT1 and preferentially phosphorylates MYPT1 at Ser20, which is essential for MYPT1-PP1cbeta interaction and subsequent Plk1 dephosphorylation.
      Title: Chk1 modulates the interaction between myosin phosphatase targeting protein 1 (MYPT1) and protein phosphatase 1cβ (PP1cβ).
    3. CDKL1 overexpression decreased the chemosensitivity of oral squamous cell carcinoma cells to hydroxycamptothecin.
      Title: CDKL1 promotes the chemoresistance of human oral squamous cell carcinoma cells to hydroxycamptothecin.
    4. CDKL1 plays an important role in neuroblastoma cell proliferation, migration and invasion.
      Title: Downregulation of CDKL1 suppresses neuroblastoma cell proliferation, migration and invasion.
    5. CDKL1 was overexpressed in breast cancer patients and had a positive detection efficiency of 77% (144/186).
      Title: Evaluation of cyclin-dependent kinase-like 1 expression in breast cancer tissues and its regulation in cancer cell growth.
    6. High expression of CDKL1 protein was associated with gastric cancer.
      Title: A role for Cdkl1 in the development of gastric cancer.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Common genetic variation and performance on standardized cognitive tests.
    EBI GWAS Catalog
    Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
    EBI GWAS Catalog

    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cyclin-dependent protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    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
    		  
    Process Evidence Code Pubs
    involved_in protein phosphorylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in ciliary transition zone ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    cyclin-dependent kinase-like 1
    Names
    cyclin-dependent kinase-like 1 (CDC2-related kinase)
    protein kinase p42 KKIALRE
    serine/threonine protein kinase KKIALRE
    NP_001269165.2
    NP_001353993.2
    NP_001353994.2
    NP_001410690.1
    NP_001410691.1
    NP_001410692.1
    NP_001410693.1
    NP_001410694.1
    NP_001410695.1
    NP_001410696.1
    NP_001410697.1
    NP_001410698.1
    NP_004187.3
    XP_005268217.1
    XP_016877221.1
    XP_047287797.1
    XP_054232840.1
    XP_054232841.1

    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)

    1. NM_001282236.3 → NP_001269165.2  cyclin-dependent kinase-like 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL359397
      Consensus CDS
      CCDS73637.1
      Related
      ENSP00000216378.2, ENST00000216378.2

    2. NM_001367064.3 → NP_001353993.2  cyclin-dependent kinase-like 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL359397

    3. NM_001367065.3 → NP_001353994.2  cyclin-dependent kinase-like 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL359397

    4. NM_001423761.1 → NP_001410690.1  cyclin-dependent kinase-like 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL359397
      UniProtKB/Swiss-Prot
      J3KMW1, Q00532, Q2M3A4, Q6QUA0, Q8WXQ5
      UniProtKB/TrEMBL
      A0A9S7JKS7

    5. NM_001423762.1 → NP_001410691.1  cyclin-dependent kinase-like 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL359397
      UniProtKB/Swiss-Prot
      J3KMW1, Q00532, Q2M3A4, Q6QUA0, Q8WXQ5
      UniProtKB/TrEMBL
      A0A9S7JKS7

    6. NM_001423763.1 → NP_001410692.1  cyclin-dependent kinase-like 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL359397
      UniProtKB/Swiss-Prot
      J3KMW1, Q00532, Q2M3A4, Q6QUA0, Q8WXQ5
      UniProtKB/TrEMBL
      A0A9S7JKS7

    7. NM_001423764.1 → NP_001410693.1  cyclin-dependent kinase-like 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL359397

    8. NM_001423765.1 → NP_001410694.1  cyclin-dependent kinase-like 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL359397

    9. NM_001423766.1 → NP_001410695.1  cyclin-dependent kinase-like 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL359397

    10. NM_001423767.1 → NP_001410696.1  cyclin-dependent kinase-like 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL359397

    11. NM_001423768.1 → NP_001410697.1  cyclin-dependent kinase-like 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL359397

    12. NM_001423769.1 → NP_001410698.1  cyclin-dependent kinase-like 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL359397

    13. NM_004196.7 → NP_004187.3  cyclin-dependent kinase-like 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL359397
      Consensus CDS
      CCDS9699.2
      UniProtKB/Swiss-Prot
      J3KMW1, Q00532, Q2M3A4, Q6QUA0, Q8WXQ5
      UniProtKB/TrEMBL
      A0A9S7JKS7
      Related
      ENSP00000379176.2, ENST00000395834.6
      Conserved Domains (1) summary
      cd07847
      Location:2 → 287
      STKc_CDKL1_4; Catalytic domain of the Serine/Threonine Kinases, Cyclin-Dependent protein Kinase Like 1 and 4

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      50326265..50397298 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431841.1 → XP_047287797.1  cyclin-dependent kinase-like 1 isoform X3

    2. XM_005268160.5 → XP_005268217.1  cyclin-dependent kinase-like 1 isoform X6

      Conserved Domains (1) summary
      cl21453
      Location:9 → 174
      PKc_like; Protein Kinases, catalytic domain

    3. XM_017021732.2 → XP_016877221.1  cyclin-dependent kinase-like 1 isoform X4

      UniProtKB/TrEMBL
      A0A5H1ZRP5
      Conserved Domains (2) summary
      cd07847
      Location:3 → 266
      STKc_CDKL1_4; Catalytic domain of the Serine/Threonine Kinases, Cyclin-Dependent protein Kinase Like 1 and 4
      pfam00069
      Location:5 → 225
      Pkinase; Protein kinase domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      44532486..44603508 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376865.1 → XP_054232840.1  cyclin-dependent kinase-like 1 isoform X3

    2. XM_054376866.1 → XP_054232841.1  cyclin-dependent kinase-like 1 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q00532.8 GenPept UniProtKB/Swiss-Prot:Q00532

    Gene LinkOut

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

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