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

Gene ID: 8814, updated on 14-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
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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 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

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