Gene Gene information from NCBI Gene database.
Entrez ID 8814
Gene name Cyclin dependent kinase like 1
Gene symbol CDKL1
Synonyms (NCBI Gene)
KKIALREP42
Chromosome 14
Chromosome location 14q21.3
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]
miRNA miRNA information provided by mirtarbase database.
362
miRTarBase ID miRNA Experiments Reference
MIRT515419 hsa-miR-4643 HITS-CLIP 21572407
MIRT515418 hsa-miR-466 HITS-CLIP 21572407
MIRT508783 hsa-miR-190a-3p HITS-CLIP 21572407
MIRT508781 hsa-miR-1277-5p HITS-CLIP 21572407
MIRT508786 hsa-miR-4789-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IBA
GO:0004674 Function Protein serine/threonine kinase activity IEA
GO:0004693 Function Cyclin-dependent protein serine/threonine kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603441 1781 ENSG00000100490
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q00532
Protein name Cyclin-dependent kinase-like 1 (EC 2.7.11.22) (Protein kinase p42 KKIALRE) (Serine/threonine-protein kinase KKIALRE)
PDB 4AGU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 5 288 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in kidney, and to a lower extent in ovary. {ECO:0000269|PubMed:9000130}.
Sequence
Sequence length 358
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PERIODONTITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 26397153
★☆☆☆☆
Found in Text Mining only
Ataxia, Spinocerebellar Spinocerebellar Ataxia BEFREE 23861941
★☆☆☆☆
Found in Text Mining only
Brain Infarction Brain Infarction BEFREE 31137455
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25920913
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 15365563
★☆☆☆☆
Found in Text Mining only
Carcinoma Basal Cell Basal cell carcinoma Pubtator 36496446 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 36496446 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 28352193, 31730864
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 37234924 Associate
★☆☆☆☆
Found in Text Mining only
Fibroadenoma Fibroadenoma BEFREE 15365563
★☆☆☆☆
Found in Text Mining only