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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
  • EC 2.7.11.22 4 61
  • Serine/Threonine Protein Kinase KKIALRE 3
  • Serine/Threonine-Protein Kinase KKIALRE 4
  • Cyclin-Dependent Kinase-Like 1 3
  • CDC2-Related Kinase 1 3
  • EC 2.7.11 61
  • KKIALRE 3
  • 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 Joubert Syndrome 1. 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.

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

Regulatory Elements for CDKL1 Gene

Enhancers for CDKL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G050342 1.5 Ensembl ENCODE dbSUPER 27.4 +72.9 72870 3.1 ATF1 ARNT SIN3A ARID4B YY1 TCF12 GATA2 NCOA1 JUNB REST CDKL1 ATP5S ATL1 MAP4K5 NIN GC14M050341 GC14M050342 LOC105370487
GH14G050347 1.3 Ensembl ENCODE dbSUPER 16 +68.5 68531 1.3 LEF1 ESRRA NFRKB BACH1 RBBP5 FOSL1 CTBP1 ZNF316 ZNF143 FOS CDKL1 ATP5S GC14M050342 GC14M050341 LOC105370487
GH14G050334 1.3 Ensembl ENCODE dbSUPER 15.7 +80.8 80759 2.5 PKNOX1 FEZF1 RAD21 TCF12 ZNF121 GATA2 EGR1 FOS REST NR2F2 ATP5S CDKL1 ATL1 MAP4K5 SOS2 GC14M050342 GC14P050330 GC14M050341
GH14G050528 1.3 ENCODE dbSUPER 15.4 -114.7 -114691 5.9 HDGF ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF207 ZNF143 CDKL1 SAV1 MAP4K5 ENSG00000259113 ATL1 LOC100419913
GH14G050520 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.4 -105.1 -105105 2.5 PKNOX1 FOXA2 SIN3A BMI1 GATA2 RELB FOS IKZF2 CREM ZNF680 MAP4K5 CDKL1 ATL1 LOC100419913
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CDKL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CDKL1 Gene

Chromosome:
14
Start:
50,329,404 bp from pter
End:
50,416,461 bp from pter
Size:
87,058 bases
Orientation:
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:
    Q00532-CDKL1_HUMAN
    Recommended name:
    Cyclin-dependent kinase-like 1
    Protein Accession:
    Q00532
    Secondary Accessions:
    • Q2M3A4
    • Q6QUA0
    • Q8WXQ5

    Protein attributes for CDKL1 Gene

    Size:
    357 amino acids
    Molecular mass:
    41671 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI04978.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAS00095.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA47002.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CDKL1 Gene

    Alternative splice isoforms for CDKL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CDKL1 Gene

Selected DME Specific Peptides for CDKL1 Gene

Q00532:
  • YVATRWYR
  • WQTLQAVNFCHK
  • TGQIVAIK
  • VDVWAIG
  • PELLVGDTQYGPPVDVWA
  • IVAIKKFLES
  • PLWPGKSDVDQLYLI

Post-translational modifications for CDKL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for CDKL1 Gene

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

Q00532

UniProtKB/Swiss-Prot:

CDKL1_HUMAN :
  • 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.
Domain:
  • The [NKR]KIAxRE motif seems to be a cyclin-binding region.
Family:
  • 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

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

Inhibitory RNA Products

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

COMPARTMENTS
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

Gene Ontology (GO) - Cellular Components for CDKL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:0070062 extracellular exosome IDA 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 IBA,IEA --
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

(2) Drugs for CDKL1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 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:

Inhibitory RNA Products

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: - - - - -
SP2:
SP3:
SP4: - - - - - - - - -
SP5: -

ExUns: 23 ^ 24 ^ 25
SP1:
SP2:
SP3: -
SP4:
SP5:

Relevant External Links for CDKL1 Gene

GeneLoc Exon Structure for
CDKL1
ECgene alternative splicing isoforms for
CDKL1

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, PaxDb, and MOPED for CDKL1 Gene



Protein tissue co-expression partners for CDKL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CDKL1 Gene:

CDKL1

SOURCE GeneReport for Unigene cluster for CDKL1 Gene:

Hs.679430

mRNA Expression by UniProt/SwissProt for CDKL1 Gene:

Q00532-CDKL1_HUMAN
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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia CDKL1 34 35
  • 99.26 (n)
cow
(Bos Taurus)
Mammalia CDKL1 34 35
  • 90.15 (n)
dog
(Canis familiaris)
Mammalia CDKL1 34 35
  • 90.04 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CDKL1 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cdkl1 34 16 35
  • 85.51 (n)
rat
(Rattus norvegicus)
Mammalia Cdkl1 34
  • 85.42 (n)
chicken
(Gallus gallus)
Aves CDKL1 34 35
  • 76.14 (n)
lizard
(Anolis carolinensis)
Reptilia CDKL1 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cdkl1 34
  • 75.35 (n)
zebrafish
(Danio rerio)
Actinopterygii cdkl1 34 35
  • 70.58 (n)
Dr.15600 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5209 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003180 34
  • 60.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7236 36 34 35
  • 57.84 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y42A5A.4 34
  • 62.38 (n)
Y42A5A.4 36 35
  • 59 (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

ENSEMBL:
Gene Tree for CDKL1 (if available)
TreeFam:
Gene Tree for CDKL1 (if available)

Paralogs for CDKL1 Gene

Variants for CDKL1 Gene

Sequence variations from dbSNP and Humsavar for CDKL1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000093670 -- 50,348,568(+) ACTCT(C/G)CAGGC intron-variant
rs1000154456 -- 50,389,910(+) AGACA(A/G)AACTG intron-variant
rs1000157483 -- 50,342,285(+) TGAAA(C/G)ACATG intron-variant
rs1000160084 -- 50,332,808(+) TAAAA(A/G)TGATA intron-variant
rs1000176806 -- 50,365,838(+) TTGCT(C/G)AGTCT intron-variant, upstream-variant-2KB

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)

Relevant External Links for CDKL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDKL1

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

Disorders for CDKL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CDKL1 Gene - From: DISEASES

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

Relevant External Links for CDKL1

Genetic Association Database (GAD)
CDKL1
Human Genome Epidemiology (HuGE) Navigator
CDKL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CDKL1
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 C.A. … Davis R.J. (Oncogene 1996) 3 4 22 64
  2. A family of human cdc2-related protein kinases. (PMID: 1639063) Meyerson M. … Tsai L.-H. (EMBO J. 1992) 2 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Common genetic variation and performance on standardized cognitive tests. (PMID: 20125193) Cirulli E.T. … Goldstein D.B. (Eur. J. Hum. Genet. 2010) 3 46 64
  5. The distribution and biochemical properties of a Cdc2-related kinase, KKIALRE, in normal and Alzheimer brains. (PMID: 7595554) Yen S.H. … Dickson D.W. (J. Neurochem. 1995) 2 3 64

Products for CDKL1 Gene

  • Addgene plasmids for CDKL1

Sources for CDKL1 Gene

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