Details for: CDKL1

Gene ID: 8814

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: CDKL1

Ensembl ID: ENSG00000100490

Description: cyclin dependent kinase like 1

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • cerebellar granule cell CL0001031
    CSI 9.95
    rCSI 14.63%
    PRS 87.61
  • conjunctival epithelial cell CL1000432
    CSI 9.46
    rCSI 14.45%
    PRS 90.93
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 7.68
    rCSI 18.66%
    PRS 78.25
  • retinal cone cell CL0000573
    CSI 7.22
    rCSI 11.62%
    PRS 84.84
  • retinal bipolar neuron CL0000748
    CSI 6.47
    rCSI 12.11%
    PRS 84.51
  • multi-ciliated epithelial cell CL0005012
    CSI 6.17
    rCSI 6.16%
    PRS 86.79
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 4.79
    rCSI 8.46%
    PRS 79.86
  • sncg GABAergic cortical interneuron CL4023015
    CSI 4.47
    rCSI 7.19%
    PRS 81.47
  • ependymal cell CL0000065
    CSI 4.46
    rCSI 9.06%
    PRS 75.72
  • pulmonary alveolar type 2 cell CL0002063
    CSI 4.31
    rCSI 6.68%
    PRS 92.6
  • mesothelial cell CL0000077
    CSI 3.77
    rCSI 14.75%
    PRS 77.43
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 3.59
    rCSI 4.47%
    PRS 78.23
  • alveolar type 1 fibroblast cell CL4028004
    CSI 3.52
    rCSI 3.86%
    PRS 93.51
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 3.42
    rCSI 20.12%
    PRS 80.84
  • kidney loop of Henle thin ascending limb epithelial cell CL1001107
    CSI 3.27
    rCSI 8.44%
    PRS 89.8
  • chondrocyte CL0000138
    CSI 3.24
    rCSI 5.15%
    PRS 87.89
  • melanocyte CL0000148
    CSI 3.15
    rCSI 2.33%
    PRS 88.88
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 3.04
    rCSI 5.1%
    PRS 80.41
  • retinal blood vessel endothelial cell CL0002585
    CSI 3.01
    rCSI 4.81%
    PRS 93.82
  • kidney loop of Henle thin descending limb epithelial cell CL1001111
    CSI 2.99
    rCSI 4.23%
    PRS 90.28
  • inhibitory interneuron CL0000498
    CSI 2.98
    rCSI 6.88%
    PRS 83.92
  • Bergmann glial cell CL0000644
    CSI 2.94
    rCSI 4.02%
    PRS 85.47
  • interneuron CL0000099
    CSI 2.87
    rCSI 5.75%
    PRS 86.66
  • adipocyte CL0000136
    CSI 2.79
    rCSI 3.58%
    PRS 84.8
  • L2/3 intratelencephalic projecting glutamatergic neuron CL4030059
    CSI 2.75
    rCSI 5.97%
    PRS 81.6
  • hepatic stellate cell CL0000632
    CSI 2.67
    rCSI 10.02%
    PRS 88.26
  • ciliated epithelial cell CL0000067
    CSI 2.52
    rCSI 2.21%
    PRS 83.96
  • pulmonary alveolar type 1 cell CL0002062
    CSI 2.41
    rCSI 13.91%
    PRS 89.63
  • astrocyte of the cerebral cortex CL0002605
    CSI 2.37
    rCSI 5.31%
    PRS 80.7
  • renal principal cell CL0005009
    CSI 2.29
    rCSI 5.94%
    PRS 91.33
  • retinal ganglion cell CL0000740
    CSI 2.16
    rCSI 4.76%
    PRS 82.66
  • cardiac neuron CL0010022
    CSI 2.09
    rCSI 6.7%
    PRS 90.88
  • vascular leptomeningeal cell CL4023051
    CSI 2.09
    rCSI 3.67%
    PRS 88.96
  • differentiation-committed oligodendrocyte precursor CL4023059
    CSI 2.04
    rCSI 3.71%
    PRS 86.27
  • epithelial cell of proximal tubule CL0002306
    CSI 2.04
    rCSI 4.98%
    PRS 86.21
  • BEST4+ enteroycte CL4030026
    CSI 1.96
    rCSI 2.44%
    PRS 91.52
  • glycinergic amacrine cell CL4030028
    CSI 1.91
    rCSI 4.97%
    PRS 86.53
  • VIP GABAergic cortical interneuron CL4023016
    CSI 1.9
    rCSI 2.26%
    PRS 80.45
  • contractile cell CL0000183
    CSI 1.79
    rCSI 5.29%
    PRS 91.79
  • ciliated cell CL0000064
    CSI 1.74
    rCSI 2.82%
    PRS 86.37
  • L6b glutamatergic cortical neuron CL4023038
    CSI 1.74
    rCSI 5.44%
    PRS 81.69
  • fibroblast of cardiac tissue CL0002548
    CSI 1.71
    rCSI 8.19%
    PRS 92.88
  • renal interstitial pericyte CL1001318
    CSI 1.69
    rCSI 4.67%
    PRS 89.75
  • lung ciliated cell CL1000271
    CSI 1.66
    rCSI 1.92%
    PRS 87
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 1.65
    rCSI 5.17%
    PRS 83.38
  • L4 intratelencephalic projecting glutamatergic neuron CL4030063
    CSI 1.64
    rCSI 3.92%
    PRS 82.69
  • GABAergic neuron CL0000617
    CSI 1.55
    rCSI 5.2%
    PRS 79.85
  • Schwann cell CL0002573
    CSI 1.51
    rCSI 4.28%
    PRS 88.8
  • sst GABAergic cortical interneuron CL4023017
    CSI 1.49
    rCSI 1.92%
    PRS 81.52
  • amacrine cell CL0000561
    CSI 1.44
    rCSI 4.18%
    PRS 84.42
  • kidney connecting tubule epithelial cell CL1000768
    CSI 1.42
    rCSI 3.6%
    PRS 86.76
  • glutamatergic neuron CL0000679
    CSI 1.29
    rCSI 2.64%
    PRS 81.31
  • parietal epithelial cell CL1000452
    CSI 1.2
    rCSI 3.2%
    PRS 87.49
  • L5/6 near-projecting glutamatergic neuron CL4030067
    CSI 1.11
    rCSI 3.64%
    PRS 81.6
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 1.07
    rCSI 3.85%
    PRS 78.51
  • blood vessel smooth muscle cell CL0019018
    CSI 1.01
    rCSI 8.19%
    PRS 89.99
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 0.96
    rCSI 3.62%
    PRS 80.61
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 0.94
    rCSI 2.14%
    PRS 85.44
  • indirect pathway medium spiny neuron CL4023029
    CSI 0.77
    rCSI 18.58%
    PRS 78.36
  • kidney loop of Henle thick ascending limb epithelial cell CL1001106
    CSI 0.68
    rCSI 5.89%
    PRS 86.99
  • direct pathway medium spiny neuron CL4023026
    CSI 0.6
    rCSI 14.44%
    PRS 78.22
  • central nervous system neuron CL2000029
    CSI 0.4
    rCSI 2.91%
    PRS 84.58
  • OFF midget ganglion cell CL4033047
    CSI 0.31
    rCSI 6.23%
    PRS 84.96
  • ON midget ganglion cell CL4033046
    CSI 0.3
    rCSI 6.04%
    PRS 84.24
  • medium spiny neuron CL1001474
    CSI 0.21
    rCSI 1.85%
    PRS 84.69

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

Loading network (please wait)...

Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [CDKL1](/details-gene/8814) (cyclin dependent kinase like 1) is a protein-coding gene located on chromosome 14q21.3 that encodes a serine/threonine protein kinase. As a member of the cyclin-dependent kinase-like family, its primary molecular functions involve [protein phosphorylation](/details-ontology/GO:0006468) and [ATP binding](/details-ontology/GO:0005524) ([Link](https://doi.org/10.1002/j.1460-2075.1992.tb05360.x)). Functionally, [CDKL1](/details-gene/8814) is implicated in the [regulation of the cell cycle](/details-ontology/GO:0051726) and, notably, the [regulation of cilium assembly](/details-ontology/GO:1902017) ([Link](https://doi.org/10.1016/j.celrep.2017.12.083)). **Overall**, its expression profile reveals high significance in a range of neuronal cell types, particularly [cerebellar granule cell](/details-cell/CL0001031) and various cortical neurons, as well as in specialized epithelial cells such as [conjunctival epithelial cell](/details-cell/CL1000432) and [multi-ciliated epithelial cell](/details-cell/CL0005012), suggesting key roles in the central nervous system and in tissues requiring ciliary function. ## Cellular Roles and Expression Landscape The **Overall** expression pattern of [CDKL1](/details-gene/8814) indicates a specialized role, predominantly within the nervous system and ciliated epithelial tissues. The gene shows its highest significance in [cerebellar granule cell](/details-cell/CL0001031) (CSI: 9.95), suggesting it is a defining marker for this abundant neuronal population in the cerebellum. This neuronal specificity extends to multiple cortical and sensory neuron types, including [L2/3-6 intratelencephalic projecting glutamatergic neuron](/details-cell/CL4023040), [retinal cone cell](/details-cell/CL0000573), and [retinal bipolar neuron](/details-cell/CL0000748), highlighting a potentially widespread role in neuronal function and maintenance across different brain regions. Beyond the nervous system, [CDKL1](/details-gene/8814) is a significant marker for several epithelial cell types, many of which are known to possess cilia. It is highly significant in [conjunctival epithelial cell](/details-cell/CL1000432) (CSI: 9.46), [multi-ciliated epithelial cell](/details-cell/CL0005012), and [ependymal cell](/details-cell/CL0000065). This expression pattern is strongly consistent with its annotated function in cilium assembly and its localization to the [ciliary transition zone](/details-ontology/GO:0035869). The gene also exhibits notable expression in other specialized cell types like [pulmonary alveolar type 2 cell](/details-cell/CL0002063) and [mesothelial cell](/details-cell/CL0000077), indicating its functions may extend to processes such as secretion or tissue lining maintenance. ## Pathways and Molecular Function [CDKL1](/details-gene/8814) functions as a serine/threonine kinase, belonging to the cyclin-dependent kinase-like family. Its core molecular activities include [cyclin-dependent protein serine/threonine kinase activity](/details-ontology/GO:0004693) and the fundamental process of [protein phosphorylation](/details-ontology/GO:0006468). The biological processes associated with [CDKL1](/details-gene/8814) are consistent with its cellular expression profile. Its involvement in the [regulation of cilium assembly](/details-ontology/GO:1902017) provides a direct molecular explanation for its high significance in [multi-ciliated epithelial cell](/details-cell/CL0005012) and [ependymal cell](/details-cell/CL0000065). Studies on the CDKL family have confirmed their role in ciliary function, suggesting they are critical for the formation and maintenance of these organelles ([Link](https://doi.org/10.1016/j.celrep.2017.12.083)). Furthermore, its role in the [regulation of cell cycle](/details-ontology/GO:0051726) is characteristic of this kinase family, although its high expression in terminally differentiated cells like neurons suggests it may be involved in maintaining a post-mitotic state rather than promoting proliferation in these contexts. Cellular component analysis shows [CDKL1](/details-gene/8814) is localized to multiple compartments, including the [cytoplasm](/details-ontology/GO:0005737), [nucleus](/details-ontology/GO:0005634), and specifically the [ciliary transition zone](/details-ontology/GO:0035869), supporting its dual roles in nuclear processes and ciliary biology. ## Research Directions The specific expression patterns and functional annotations of [CDKL1](/details-gene/8814) suggest several avenues for future investigation. Its high significance in both post-mitotic neurons and ciliated cells points to specialized roles that could be relevant to developmental disorders and ciliopathies. Based on the available data, several testable hypotheses can be proposed: 1. Given its high expression across diverse neuronal subtypes ([cerebellar granule cell](/details-cell/CL0001031), [retinal cone cell](/details-cell/CL0000573), cortical interneurons), [CDKL1](/details-gene/8814) may phosphorylate key substrates required for the maintenance of neuronal identity, synaptic function, or dendritic arborization in the mature central nervous system. 2. The established role of [CDKL1](/details-gene/8814) in cilium assembly suggests that pathogenic variants in this gene could contribute to the etiology of ciliopathies, potentially manifesting as neurological defects (due to impaired primary cilia on neurons) or respiratory issues (due to impaired motile cilia in the airways). To address the first hypothesis regarding its neuronal function, a compelling experimental approach would be to investigate its role in cerebellar development. A conditional knockout mouse model could be generated to specifically delete [CDKL1](/details-gene/8814) in cerebellar granule cell precursors. Subsequent analysis using immunohistochemistry for neuronal markers, whole-cell patch-clamp electrophysiology to assess cell excitability, and behavioral assays like the rotarod test would reveal defects in cell maturation, circuit integration, and motor coordination. A comparative phosphoproteomic analysis of knockout versus wild-type cerebellar tissue could then identify the direct downstream targets of [CDKL1](/details-gene/8814) kinase activity. Therapeutically, [CDKL1](/details-gene/8814)'s identity as a protein kinase makes it a druggable target. Its involvement in cell cycle regulation could position it as a candidate for cancer therapy, particularly in cancers of neuronal origin (e.g., medulloblastoma) where it might be aberrantly expressed or activated. In such a context, a strategy of **inhibition** would be pursued to block oncogenic signaling. However, its high expression in healthy neurons presents a significant risk for on-target neurological toxicity, requiring the development of highly specific inhibitors or targeted delivery systems.

Genular Protein ID: 1716930285

Symbol: CDKL1_HUMAN

Name: Protein kinase p42 KKIALRE

UniProtKB Accession Codes:

Q00532 J3KMW1 Q2M3A4 Q6QUA0 Q8WXQ5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CPTAC 2 CTD 1 ChEBI 12 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EC 3 EMBL 8 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 12 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 2 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 RefSeq 3 Rhea 6 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 1639063

Title: A family of human cdc2-related protein kinases.

PubMed ID: 1639063

DOI: 10.1002/j.1460-2075.1992.tb05360.x

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9000130

Title: Molecular cloning of the epidermal growth factor-stimulated protein kinase p56 KKIAMRE.

PubMed ID: 9000130

PubMed ID: 29420175

Title: CDKL Family Kinases Have Evolved Distinct Structural Features and Ciliary Function.

PubMed ID: 29420175

DOI: 10.1016/j.celrep.2017.12.083

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

Sequence Information:

  • Length: 357
  • Mass: 41701
  • Checksum: 2A0801F1338F58FC
  • Sequence:
    • MEKYEKIGKI GEGSYGVVFK CRNRDTGQIV AIKKFLESED DPVIKKIALR EIRMLKQLKH 
PNLVNLLEVF RRKRRLHLVF EYCDHTVLHE LDRYQRGVPE HLVKSITWQT LQAVNFCHKH 
NCIHRDVKPE NILITKHSVI KLCDFGFARL LTGPSDYYTD YVATRWYRSP ELLVGDTQYG 
PPVDVWAIGC VFAELLSGVP LWPGKSDVDQ LYLIRKTLGD LIPRHQQVFS TNQYFSGVKI 
PDPEDMEPLE LKFPNISYPA LGLLKGCLHM DPTQRLTCEQ LLHHPYFENI REIEDLAKEH 
NKPTRKTLRK SRKHHCFTET SKLQYLPQLT GSSILPALDN KKYYCDTKKL NYRFPNI

Genular Protein ID: 4091164088

Symbol: A0A5H1ZRP5_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A5H1ZRP5

Database IDs:

ARBA 6 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 CDD 1 CTD 1 ChEBI 1 DNASU 1 DisGeNET 1 EMBL 2 Ensembl 2 ExpressionAtlas 1 GO 4 Gene3D 1 GeneTree 1 HGNC 1 InterPro 5 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 4 PROSITE-ProRule 1 PeptideAtlas 2 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 RuleBase 1 SMART 1 SMR 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 276
  • Mass: 31932
  • Checksum: B5DB597529FB847C
  • Sequence:
    • MMEKYEKIGK IGEGSYGVVF KCRNRDTGQI VAIKKFLESE DDPVIKKIAL REIRMLKQLK 
HPNLVNLLEV FRRKRRLHLV FEYCDHTVLH ELDRYQRGVP EHLVKSITWQ TLQAVNFCHK 
HNCIHRDVKP ENILITKHSV IKLCDFGFAR LLTGPSDYYT DYVATRWYRS PELLVGDTQY 
GPPVDVWAIG CVFAELLSGV PLWPGKSDVD QLYLIRKTLG DLIPRHQQVF STNQYFSGVK 
IPDPEDMEPL ELKFPNISYP ALGLLKGRVP IASRTE