CILK1 wt Allele

Preferred Label : CILK1 wt Allele;

NCIt synonyms : ECO; LCK2; MRK; EJM10; KIAA0936; Intestinal Cell (MAK-Like) Kinase Gene; ICK; Intestinal Cell Kinase Gene; hICK; Ciliogenesis Associated Kinase 1 wt Allele; MGC46090; Iciliogenesis Associated Kinase 1 Gene;

NCIt definition : Human CILK1 wild-type allele is located in the vicinity of 6p12.1 and is approximately 61 kb in length. This allele, which encodes serine/threonine-protein kinase ICK protein, is involved in intraflagellar transport and ciliogenesis. Mutation of the gene is associated with endocrine-cerebroosteodysplasia and susceptibility to juvenile myoclonic epilepsy.;

NCI Metathesaurus CUI : CL552038;

GenBank Accession Number : AB023153;

Details

Origin ID

C150262;

UMLS CUI

C4723852;

Automatic exact mappings (from CISMeF team)
- Endocrine-cerebroosteodysplasia [OMIM Phenotype]
- Epilepsy, juvenile myoclonic, susceptibility to, 10 [OMIM Phenotype]
- Intestinal cell kinase [OMIM gene]
- Mitogen-activated protein kinase kinase kinase 20 [OMIM gene]
- ciliogenesis associated kinase 1 [ORDO Gene]
- juvenile myoclonic epilepsy 10 [DO Concept]
- mitogen-activated protein kinase kinase kinase 20 [ORDO Gene]
OMIM relation
- Intestinal cell kinase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6p12.1 [NCIt concept]
gene_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Microtubule Process [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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