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Aliases for CDKL1 Gene

Aliases for CDKL1 Gene

  • Cyclin Dependent Kinase Like 1 2 3 5
  • Cyclin-Dependent Kinase-Like 1 (CDC2-Related Kinase) 2 3
  • Protein Kinase P42 KKIALRE 3 4
  • Serine/Threonine Protein Kinase KKIALRE 3
  • Serine/Threonine-Protein Kinase KKIALRE 4
  • Cyclin-Dependent Kinase-Like 1 3
  • CDC2-Related Kinase 1 3
  • EC 4
  • P42 3

External Ids for CDKL1 Gene

Previous GeneCards Identifiers for CDKL1 Gene

  • GC14M048118
  • GC14M044592
  • GC14M048786
  • GC14M049866
  • GC14M050796
  • GC14M030921

Summaries for CDKL1 Gene

Entrez Gene Summary for CDKL1 Gene

  • This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

GeneCards Summary for CDKL1 Gene

CDKL1 (Cyclin Dependent Kinase Like 1) is a Protein Coding gene. Diseases associated with CDKL1 include Orofaciodigital Syndrome Vi and Joubert Syndrome 1. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is CDKL4.

Additional gene information for CDKL1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDKL1 Gene

Genomics for CDKL1 Gene

GeneHancer (GH) Regulatory Elements for CDKL1 Gene

Promoters and enhancers for CDKL1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J050395 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 663.2 +19.5 19511 3 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF48 GATA2 NFKBIZ SP3 MXD4 CDKL1 LOC105370487 VCPKMT MAP4K5 NEMF ATL1
GH14J050342 Enhancer 1.3 Ensembl ENCODE dbSUPER 27.4 +72.9 72870 3.1 ATF1 FOXA2 ARNT ARID4B YY1 TCF12 ZNF143 ATF7 RUNX3 RXRA CDKL1 ATP5S ATL1 MAP4K5 NIN GC14M050342 GC14M050341 LOC105370487
GH14J050528 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 15.4 -114.7 -114691 5.9 HDGF CLOCK ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF207 MAP4K5 ATL1 CDKL1 SAV1 ENSG00000259113 LOC100419913
GH14J050347 Enhancer 1.2 Ensembl ENCODE dbSUPER 16 +68.5 68530 1.3 GTF2F1 LEF1 NFRKB BACH1 PYGO2 FOSL1 CTBP1 ZNF316 ZNF444 FOS CDKL1 ATP5S GC14M050341 GC14M050342 LOC105370487
GH14J050362 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 11.9 +51.4 51442 4.4 ELF3 PKNOX1 EBF1 ZNF644 YY1 POLR2A EED ATF7 ETV6 IKZF2 MAP4K5 ATP5S CDKL1 ATL1 GC14M050341 GC14M050342 LOC105370487
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDKL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CDKL1 gene promoter:
  • Nkx2-2
  • GATA-3
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2
  • HSF1short
  • HSF1 (long)
  • STAT3
  • ZIC2

Genomic Locations for CDKL1 Gene

Genomic Locations for CDKL1 Gene
87,058 bases
Minus strand
86,870 bases
Minus strand

Genomic View for CDKL1 Gene

Genes around CDKL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDKL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDKL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDKL1 Gene

Proteins for CDKL1 Gene

  • Protein details for CDKL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cyclin-dependent kinase-like 1
    Protein Accession:
    Secondary Accessions:
    • J3KMW1
    • Q2M3A4
    • Q6QUA0
    • Q8WXQ5

    Protein attributes for CDKL1 Gene

    358 amino acids
    Molecular mass:
    41803 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CDKL1 Gene

    Alternative splice isoforms for CDKL1 Gene


neXtProt entry for CDKL1 Gene

Post-translational modifications for CDKL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CDKL1 Gene

Domains & Families for CDKL1 Gene

Gene Families for CDKL1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for CDKL1 Gene

Suggested Antigen Peptide Sequences for CDKL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The [NKR]KIAxRE motif seems to be a cyclin-binding region.
  • Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
  • The [NKR]KIAxRE motif seems to be a cyclin-binding region.
  • Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
genes like me logo Genes that share domains with CDKL1: view

Function for CDKL1 Gene

Molecular function for CDKL1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.

Enzyme Numbers (IUBMB) for CDKL1 Gene

Phenotypes From GWAS Catalog for CDKL1 Gene

Gene Ontology (GO) - Molecular Function for CDKL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0004693 cyclin-dependent protein serine/threonine kinase activity TAS,IBA --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with CDKL1: view
genes like me logo Genes that share phenotypes with CDKL1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CDKL1

Clone Products

  • Addgene plasmids for CDKL1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CDKL1 Gene

Localization for CDKL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDKL1 Gene

Cytoplasm. Nucleus.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDKL1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CDKL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:0070062 extracellular exosome HDA 18570454
genes like me logo Genes that share ontologies with CDKL1: view

Pathways & Interactions for CDKL1 Gene

SuperPathways for CDKL1 Gene

No Data Available

Pathways by source for CDKL1 Gene

1 GeneTex pathway for CDKL1 Gene

Gene Ontology (GO) - Biological Process for CDKL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA,IBA --
GO:0007507 heart development IEA --
GO:0016310 phosphorylation IEA --
GO:0051726 regulation of cell cycle IEA --
genes like me logo Genes that share ontologies with CDKL1: view

No data available for SIGNOR curated interactions for CDKL1 Gene

Drugs & Compounds for CDKL1 Gene

(3) Drugs for CDKL1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(1) Additional Compounds for CDKL1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with CDKL1: view

Transcripts for CDKL1 Gene

Unigene Clusters for CDKL1 Gene

Cyclin-dependent kinase-like 1 (CDC2-related kinase):
Representative Sequences:

Clone Products

  • Addgene plasmids for CDKL1

Alternative Splicing Database (ASD) splice patterns (SP) for CDKL1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^
SP1: - - - - -
SP4: - - - - - - - - -
SP5: -

ExUns: 23 ^ 24 ^ 25
SP3: -

Relevant External Links for CDKL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CDKL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CDKL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CDKL1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (56.3) and Heart (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CDKL1 Gene

Protein tissue co-expression partners for CDKL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CDKL1 Gene:


SOURCE GeneReport for Unigene cluster for CDKL1 Gene:


mRNA Expression by UniProt/SwissProt for CDKL1 Gene:

Tissue specificity: Highly expressed in kidney, and to a lower extent in ovary.

Evidence on tissue expression from TISSUES for CDKL1 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with CDKL1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CDKL1 Gene

Orthologs for CDKL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CDKL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CDKL1 34 33
  • 99.26 (n)
(Bos Taurus)
Mammalia CDKL1 34 33
  • 90.15 (n)
(Canis familiaris)
Mammalia CDKL1 34 33
  • 90.04 (n)
(Ornithorhynchus anatinus)
Mammalia CDKL1 34
  • 88 (a)
(Mus musculus)
Mammalia Cdkl1 16 34 33
  • 85.51 (n)
(Rattus norvegicus)
Mammalia Cdkl1 33
  • 85.42 (n)
(Gallus gallus)
Aves CDKL1 34 33
  • 76.14 (n)
(Anolis carolinensis)
Reptilia CDKL1 34
  • 88 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cdkl1 33
  • 75.35 (n)
(Danio rerio)
Actinopterygii cdkl1 34 33
  • 70.58 (n)
Dr.15600 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5209 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003180 33
  • 60.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7236 34 35 33
  • 57.84 (n)
(Caenorhabditis elegans)
Secernentea CELE_Y42A5A.4 33
  • 62.38 (n)
Y42A5A.4 34 35
  • 40 (a)
Species where no ortholog for CDKL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CDKL1 Gene

Gene Tree for CDKL1 (if available)
Gene Tree for CDKL1 (if available)
Evolutionary constrained regions (ECRs) for CDKL1: view image

Paralogs for CDKL1 Gene

Variants for CDKL1 Gene

Sequence variations from dbSNP and Humsavar for CDKL1 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000093670 -- 50,348,568(-) C/G genic_upstream_transcript_variant, intron_variant
rs1000154456 -- 50,389,910(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000157483 -- 50,342,285(-) C/G intron_variant
rs1000160084 -- 50,332,808(-) A/G intron_variant
rs1000176806 -- 50,365,838(-) G/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CDKL1 Gene

Variant ID Type Subtype PubMed ID
dgv3714n54 CNV loss 21841781
esv2657374 CNV deletion 23128226
esv28926 CNV gain+loss 19812545
esv3551540 CNV deletion 23714750
esv3634477 CNV loss 21293372
esv3634478 CNV loss 21293372
esv3634479 CNV loss 21293372
nsv1052059 CNV loss 25217958
nsv1272 CNV insertion 18451855
nsv564835 CNV gain 21841781
nsv819725 CNV gain 19587683
nsv820573 CNV deletion 20802225
nsv832793 CNV loss 17160897

Variation tolerance for CDKL1 Gene

Residual Variation Intolerance Score: 74.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.65; 56.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDKL1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDKL1 Gene

Disorders for CDKL1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CDKL1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
orofaciodigital syndrome vi
  • ofd6
joubert syndrome 1
  • jbts1
- elite association - COSMIC cancer census association via MalaCards
Search CDKL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CDKL1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CDKL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CDKL1 Gene

Publications for CDKL1 Gene

  1. Molecular cloning of the epidermal growth factor-stimulated protein kinase p56 KKIAMRE. (PMID: 9000130) Taglienti CA … Davis RJ (Oncogene 1996) 3 4 22 58
  2. A family of human cdc2-related protein kinases. (PMID: 1639063) Meyerson M … Tsai LH (The EMBO journal 1992) 2 3 4 58
  3. Common genetic variation and performance on standardized cognitive tests. (PMID: 20125193) Cirulli ET … Goldstein DB (European journal of human genetics : EJHG 2010) 3 44 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for CDKL1 Gene

Sources for CDKL1 Gene

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