CILK1 (ciliogenesis associated kinase 1)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 22858
Gene name Ciliogenesis associated kinase 1
Gene symbol CILK1
Synonyms (NCBI Gene)
ECOEJM10ICKLCK2MRKhICK
Chromosome 6
Chromosome location 6p12.1
Summary Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harbor
SNPs SNP information provided by dbSNP.
8
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
SNP ID Visualize variation Clinical significance Consequence
rs55932059 C>A,G,T Risk-factor Non coding transcript variant, coding sequence variant, missense variant
rs118203918 C>T Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs376111440 G>A,T Risk-factor Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs765078446 T>G Risk-factor Coding sequence variant, missense variant, non coding transcript variant
rs772883200 G>A,C Likely-pathogenic Coding sequence variant, stop gained, missense variant, non coding transcript variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (47)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IDA 10699974
GO:0004672 Function Protein kinase activity IDA 19185282
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612325 21219 ENSG00000112144
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UPZ9
Protein name Serine/threonine-protein kinase ICK (EC 2.7.11.1) (Ciliogenesis associated kinase 1) (Intestinal cell kinase) (hICK) (Laryngeal cancer kinase 2) (LCK2) (MAK-related kinase) (MRK)
Protein function Required for ciliogenesis (PubMed:24797473). Phosphorylates KIF3A (By similarity). Involved in the control of ciliary length (PubMed:24853502). Regulates the ciliary localization of SHH pathway components as well as the localization of IFT compo
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 4 → 284 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, brain, placenta, pancreas, thymus, prostate, testis, ovary, small intestine and colon, with highest levels in placenta and testis. Not detected in spleen. Also expressed in many cancer cell lines. {ECO:0000269|PubMe
Sequence 
MNRYTTIRQLGDGTYGSVLLGRSIESGELIAIKKMKRKFYSWEECMNLREVKSLKKLNHA
NVVKLKEVIRENDHLYFIFEYMKENLYQLIKERNKLFPESAIRNIMYQILQGLAFIHKHG
FFHRDLKPENLLCMGPELVKIADFGLAREIRSKPPYTDYVSTRWYRAPEVLLRSTNYSSP
IDVWAVGCIMAEVYTLRPLFPGASEIDTIFKICQVLGTPKKTDWPEGYQLSSAMNFRWPQ
CVPNNLKTLIPNASSEAVQLLRDMLQWDPKKRPTASQALRYPYFQVGHPLGSTTQNLQDS
EKPQKGILEKAGPPPYIKPVPPAQPPAKPHTRISSRQHQASQPPLHLTYPYKAEVSRTDH
PSHLQEDKPSPLLFPSLHNKHPQSKITAGLEHKNGEIKPKSRRRWGLISRSTKDSDDWAD
LDDLDFSPSLSRIDLKNKKRQSDDTLCRFESVLDLKPSEPVGTGNSAPTQTSYQRRDTPT
LRSAAKQHYLKHSRYLPGISIRNGILSNPGKEFIPPNPWSSSGLSGKSSGTMSVISKVNS
VGSSSTSSSGLTGNYVPSFLKKEIGSAMQRVHLAPIPDPSPGYSSLKAMRPHPGRPFFHT
QPRSTPGLIPRPPAAQPVHGRTDWASKYASRR
Sequence length 632
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
48
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Endocrine-cerebro-osteodysplasia syndrome Pathogenic rs118203918, rs1157785470 RCV000000672
RCV000766214
Epilepsy, juvenile myoclonic, susceptibility to, 10 Likely pathogenic rs772883200 RCV005633789
Papillary renal cell carcinoma type 1 Pathogenic rs1157785470 RCV005897342
Short rib-polydactyly syndrome Likely pathogenic rs868310475 RCV000755167
Show/Hide Unknown Diseases (7)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CILK1-related disorder Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity rs143740030, rs141663565, rs148180965, rs141369425, rs759836069, rs200780900, rs543243399, rs2533335625, rs757511087, rs145842629, rs201964851, rs115840580, rs139739780 RCV003921005
RCV003926336
RCV003971201
RCV003926337
RCV003900935
RCV003982932
RCV003930090
RCV003400347
RCV003420736
RCV003980114
RCV003980374
RCV003935951
RCV003968372
Congenital ocular coloboma Uncertain significance rs370955882, rs748539319 RCV001391286
RCV001391287
Dysplastic corpus callosum Uncertain significance rs370955882, rs748539319 RCV001391286
RCV001391287
Gastric cancer Benign rs150834 RCV005923622
Show/Hide Text Mining Associations (14)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autistic Disorder Associate 30879638
Coffin Lowry Syndrome Associate 9837815
Developmental Disabilities Associate 21980446
Diastrophic dysplasia Associate 30879638
Endocrine Cerebroosteodysplasia Associate 21980446
Glioblastoma Associate 22552889
Language Development Disorders Associate 30879638
Lymphoma Large B Cell Diffuse Associate 8051045
Neoplasms Associate 22157150, 32033228
Osteogenesis Imperfecta Associate 2295701