CILK1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | CILK1 |
| Official Name | ciliogenesis associated kinase 1 [Source:HGNC Symbol;Acc:HGNC:21219] |
| Ensembl ID | ENSG00000112144 |
| Bio databases IDs | |
| Aliases | ciliogenesis associated kinase 1, serine/threonine-protein kinase ICK, MAK-related kinase |
| Synonyms | 2210420N10RIK, ciliogenesis associated kinase 1, ECO, EJM10, hICK, ICK, LCK2, LOC102724620, MAK-related kinase, MRK |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CILK1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- Serine/Threonine protein kinases, catalytic domain
- protein serine/threonine kinase
- Protein kinase (unclassified specificity)
- protein kinase
- Protein Kinases, catalytic domain
- Protein tyrosine and serine/threonine kinase
- ATP binding
- protein binding
- Protein kinase domain
- magnesium ion binding
- Tyrosine kinase, catalytic domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- precursor B-cell acute lymphoblastic leukemia
- acute myeloid leukemia
- plasma cell myeloma
- T acute lymphoblastic leukemia
- colon adenocarcinoma
- colon epithelial cancer
- endocrine-cerebroosteodysplasia
- susceptibility to juvenile myoclonic epilepsy type 10
- gastrointestinal neoplasia
- adenoma formation
regulates
role in cell
- proliferation
- phosphorylation in
- assembly
- signal transduction in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- fibrillar center
- ciliary tip
- cilia
- Nucleus
- basal bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CILK1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
- intraflagellar transport
- signal transduction
- protein phosphorylation
- intraflagellar anterograde transport
- intracellular signal transduction
- intraflagellar retrograde transport
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cilium basal body
- cilium
- cytosol
- fibrillar center
Molecular Function
What the gene product does at the molecular level
- magnesium ion binding
- ATP binding
- protein binding
- protein kinase activity
- protein serine/threonine kinase activity