NEK1 wt Allele

Preferred Label : NEK1 wt Allele;

NCIt synonyms : SRPS2; SRPS2A; NY-REN-55; NIMA Related Kinase 1 wt Allele; SRTD6; KIAA1901; NIMA (Never In Mitosis Gene A)-Related Kinase 1 Gene;

NCIt definition : Human NEK1 wild-type allele is located in the vicinity of 4q33 and is approximately 219 kb in length. This allele, which encodes serine/threonine-protein kinase Nek1 protein, is involved in cell division, cilia assembly and protein phosphorylation. Mutation of the gene is associated with short-rib thoracic dysplasia 6 with or without polydactyly.;

NCI Metathesaurus CUI : CL520088;

GenBank Accession Number : AB067488;

Details

Origin ID

C132117;

UMLS CUI

C4321444;

Automatic exact mappings (from CISMeF team)
- NIMA related kinase 1 [ORDO Gene]
- Nima-related kinase 1 [OMIM gene]
OMIM relation
- Nima-related kinase 1 [OMIM gene]
See also inter- (CISMeF)
- Short-rib thoracic dysplasia 6 with or without polydactyly [OMIM Phenotype]
- short-rib thoracic dysplasia 6 with or without polydactyly [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients