Details for: CDKL1

Gene ID: 8814

Symbol: CDKL1

Ensembl ID: ENSG00000100490

Description: cyclin dependent kinase like 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 164.4538
    Cell Significance Index: -25.5800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 101.3234
    Cell Significance Index: -25.7000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 48.2699
    Cell Significance Index: -19.6100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 20.5919
    Cell Significance Index: -19.6600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 20.5685
    Cell Significance Index: -25.3600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.0748
    Cell Significance Index: -24.3100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 8.3446
    Cell Significance Index: -25.6300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.5179
    Cell Significance Index: -25.7200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.6385
    Cell Significance Index: 328.6800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.1239
    Cell Significance Index: 24.3500
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.0364
    Cell Significance Index: 15.5300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.9396
    Cell Significance Index: 12.8200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.8893
    Cell Significance Index: 169.2400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.8411
    Cell Significance Index: 38.1300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.7437
    Cell Significance Index: 50.0100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.7177
    Cell Significance Index: 257.4400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.7137
    Cell Significance Index: 13.9300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.6763
    Cell Significance Index: 19.4900
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 0.5146
    Cell Significance Index: 6.4800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4875
    Cell Significance Index: 96.7600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.4820
    Cell Significance Index: 12.9200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4780
    Cell Significance Index: 24.8300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.4433
    Cell Significance Index: 12.3900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.4234
    Cell Significance Index: 9.2700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4167
    Cell Significance Index: 288.1900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.3658
    Cell Significance Index: 10.4400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.3081
    Cell Significance Index: 13.6300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3031
    Cell Significance Index: 273.6400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.2841
    Cell Significance Index: 10.7600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.2794
    Cell Significance Index: 40.6200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2573
    Cell Significance Index: 25.4500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2415
    Cell Significance Index: 26.2700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2140
    Cell Significance Index: 12.0100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2036
    Cell Significance Index: 33.1200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.1709
    Cell Significance Index: 4.9000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.1218
    Cell Significance Index: 165.6000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1204
    Cell Significance Index: 3.0100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0944
    Cell Significance Index: 6.5300
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.0919
    Cell Significance Index: 1.3200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0915
    Cell Significance Index: 7.0200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0810
    Cell Significance Index: 9.9600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0764
    Cell Significance Index: 1.5900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0634
    Cell Significance Index: 8.7000
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.0590
    Cell Significance Index: 0.4000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0572
    Cell Significance Index: 0.9800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0445
    Cell Significance Index: 68.4600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0334
    Cell Significance Index: 6.0200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0320
    Cell Significance Index: 60.3300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0119
    Cell Significance Index: 21.9500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0091
    Cell Significance Index: 6.6900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0036
    Cell Significance Index: 1.9400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0023
    Cell Significance Index: 0.0800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0063
    Cell Significance Index: -3.9700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0195
    Cell Significance Index: -8.8300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0324
    Cell Significance Index: -24.4900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0357
    Cell Significance Index: -26.4800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0403
    Cell Significance Index: -17.8300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0442
    Cell Significance Index: -27.5800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0502
    Cell Significance Index: -28.3100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0691
    Cell Significance Index: -19.8900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0718
    Cell Significance Index: -4.4000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0763
    Cell Significance Index: -4.9200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1021
    Cell Significance Index: -5.3200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1127
    Cell Significance Index: -19.2500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1333
    Cell Significance Index: -28.0900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1363
    Cell Significance Index: -13.9200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1461
    Cell Significance Index: -18.7300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1616
    Cell Significance Index: -5.1800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1719
    Cell Significance Index: -20.0300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1734
    Cell Significance Index: -22.4000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1815
    Cell Significance Index: -3.8700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1976
    Cell Significance Index: -23.3000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2137
    Cell Significance Index: -22.2500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2273
    Cell Significance Index: -26.0400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2391
    Cell Significance Index: -18.9400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2666
    Cell Significance Index: -8.4900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2962
    Cell Significance Index: -13.9200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.3220
    Cell Significance Index: -2.9700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3227
    Cell Significance Index: -10.5700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3248
    Cell Significance Index: -24.2100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3260
    Cell Significance Index: -8.3800
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.3408
    Cell Significance Index: -4.2500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.3566
    Cell Significance Index: -25.2200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.4022
    Cell Significance Index: -5.7600
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.4108
    Cell Significance Index: -9.4900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.4117
    Cell Significance Index: -25.9500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4132
    Cell Significance Index: -8.7700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.4211
    Cell Significance Index: -25.8800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.4504
    Cell Significance Index: -21.0000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.4569
    Cell Significance Index: -23.9900
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.4591
    Cell Significance Index: -19.9600
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.4595
    Cell Significance Index: -5.8000
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.4633
    Cell Significance Index: -10.0100
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.4762
    Cell Significance Index: -9.5600
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.4920
    Cell Significance Index: -5.3600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5017
    Cell Significance Index: -17.5800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.5103
    Cell Significance Index: -10.0900
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.5442
    Cell Significance Index: -7.2600
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.5560
    Cell Significance Index: -4.2500
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.5633
    Cell Significance Index: -5.3400

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.

Other Information

**Key Characteristics:** 1. **Cellular Localization:** CDKL1 is predominantly expressed in neural cells, including interneurons, astrocytes, and renal principal cells. 2. **Protein Kinase Activity:** CDKL1 is a protein kinase that phosphorylates and regulates various substrates, influencing cellular processes such as cell cycle progression, protein stability, and cytoskeletal organization. 3. **Cell Cycle Regulation:** CDKL1 plays a role in regulating the cell cycle, particularly in the G2/M phase, where it phosphorylates and activates cyclin-dependent kinases. 4. **Cytoskeletal Assembly:** CDKL1 is involved in the assembly and maintenance of the cytoskeleton, which is essential for cell shape, movement, and division. **Pathways and Functions:** 1. **Cell Cycle Regulation:** CDKL1 phosphorylates and activates cyclin-dependent kinases, which drive the cell cycle forward. 2. **Protein Phosphorylation:** CDKL1 phosphorylates and regulates various proteins, including transcription factors, receptors, and cytoskeletal proteins. 3. **Ciliary Transition Zone:** CDKL1 is involved in the assembly and maintenance of the ciliary transition zone, a critical region in cilia structure and function. 4. **Neural Development:** CDKL1 plays a role in regulating neural development, including the formation and function of interneurons, which are essential for regulating neural circuit function and behavior. **Clinical Significance:** 1. **Early Infantile Epileptic Encephalopathy (IEE):** Mutations in CDKL1 have been linked to IEE, a severe and debilitating neurological disorder characterized by epilepsy, developmental delay, and intellectual disability. 2. **Neurodevelopmental Disorders:** CDKL1 mutations have also been associated with other neurodevelopmental disorders, including autism spectrum disorder, schizophrenia, and attention-deficit/hyperactivity disorder. 3. **Cancer:** CDKL1 is overexpressed in certain types of cancer, including breast and ovarian cancer, suggesting its potential role in tumorigenesis. 4. **Neurological Disorders:** CDKL1 mutations have been implicated in various other neurological disorders, including Parkinson's disease, Alzheimer's disease, and Huntington's disease. In conclusion, CDKL1 is a critical gene involved in various cellular processes, including cell cycle regulation, protein phosphorylation, and cytoskeletal assembly. Its dysregulation has been linked to severe neurological disorders, highlighting the need for further research into the mechanisms underlying CDKL1 function and the development of therapeutic strategies to target this gene in disease prevention and treatment.

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

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.