CILK1
Serine/threonine-protein kinase ICK
Also known as: CILK1_HUMAN, ICK, KIAA0936, LCK2, MGC46090, MRK
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UPZ9
- Gene
- CILK1
- Ensembl
- ENSG00000112144
- Chromosome
- 6
- Canonical length
- 632 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Golgi apparatus,Vesicles,Primary cilium,Primary cilium tip
OverviewNCBI Gene
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 harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
632 residues, UniProt reviewed canonical sequence.
>Q9UPZ9|CILK1
1 MNRYTTIRQL GDGTYGSVLL GRSIESGELI AIKKMKRKFY SWEECMNLRE VKSLKKLNHA
61 NVVKLKEVIR ENDHLYFIFE YMKENLYQLI KERNKLFPES AIRNIMYQIL QGLAFIHKHG
121 FFHRDLKPEN LLCMGPELVK IADFGLAREI RSKPPYTDYV STRWYRAPEV LLRSTNYSSP
181 IDVWAVGCIM AEVYTLRPLF PGASEIDTIF KICQVLGTPK KTDWPEGYQL SSAMNFRWPQ
241 CVPNNLKTLI PNASSEAVQL LRDMLQWDPK KRPTASQALR YPYFQVGHPL GSTTQNLQDS
301 EKPQKGILEK AGPPPYIKPV PPAQPPAKPH TRISSRQHQA SQPPLHLTYP YKAEVSRTDH
361 PSHLQEDKPS PLLFPSLHNK HPQSKITAGL EHKNGEIKPK SRRRWGLISR STKDSDDWAD
421 LDDLDFSPSL SRIDLKNKKR QSDDTLCRFE SVLDLKPSEP VGTGNSAPTQ TSYQRRDTPT
481 LRSAAKQHYL KHSRYLPGIS IRNGILSNPG KEFIPPNPWS SSGLSGKSSG TMSVISKVNS
541 VGSSSTSSSG LTGNYVPSFL KKEIGSAMQR VHLAPIPDPS PGYSSLKAMR PHPGRPFFHT
601 QPRSTPGLIP RPPAAQPVHG RTDWASKYAS RRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CILK1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.5
- Highest tissue expression
- 17 nTPM
Expression across tissuesHPA
Tissue
- salivary gland: 17 nTPM
- adrenal gland: 17 nTPM
- retina: 16 nTPM
- stomach: 12 nTPM
- placenta: 11 nTPM
- spinal cord: 10 nTPM
Single-cell type
- adrenal cortex cells: 117 nCPM
- cone photoreceptor cells: 97 nCPM
- oligodendrocytes: 97 nCPM
- syncytiotrophoblasts: 80 nCPM
- salivary acinar cells: 69 nCPM
- conjunctival goblet cells: 67 nCPM
Immune cell
- basophil: 2.8 nTPM
- eosinophil: 2.2 nTPM
- gdT-cell: 1.7 nTPM
- T-reg: 1.7 nTPM
- MAIT T-cell: 1.5 nTPM
- naive B-cell: 1.5 nTPM
Brain region
- thalamus: 33 nTPM
- white matter: 27 nTPM
- midbrain: 26 nTPM
- basal ganglia: 24 nTPM
- amygdala: 23 nTPM
- medulla oblongata: 21 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CILK1.
Disease | AllUniProt
Conditions CILK1 is implicated in, by any mechanism.
- Endocrine-cerebroosteodysplasia (ECO) MIM:612651
- Juvenile myoclonic epilepsy 10 (EJM10) MIM:617924
- Cranioectodermal dysplasia 6 (CED6) MIM:621337
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 283 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Endocrine-cerebro-osteodysplasia syndrome
- Short rib-polydactyly syndrome
- Papillary renal cell carcinoma type 1
- Epilepsy, juvenile myoclonic, susceptibility to, 10
- Cranioectodermal dysplasia
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.61
- gnomAD pLI
- 0
- DepMap mean gene effect
- -0.11
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cilium assembly
- intracellular signal transduction
- intraciliary anterograde transport
- intraciliary retrograde transport
- intraciliary transport
- protein phosphorylation
- signal transduction
Molecular functions
- ATP binding
- magnesium ion binding
- protein kinase activity
- protein serine kinase activity
- protein serine/threonine kinase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CILK1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CILK1 as an antibody target. Whether an autoantibody or antibody against CILK1 could matter depends on whether native CILK1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CILK1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CILK1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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