Gene
nek1
- ID
- ZDB-GENE-040730-1
- Name
- NIMA-related kinase 1
- Symbol
- nek1 Nomenclature History
- Previous Names
-
- DKEY-15J16.6 (1)
- si:dkey-15j16.5
- si:dkey-171k19.5
- wu:fc38c08
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to have protein serine/threonine kinase activity. Involved in cilium assembly and cranial skeletal system development. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis; asphyxiating thoracic dystrophy; and short-rib thoracic dysplasia 6 with or without polydactyly. Orthologous to human NEK1 (NIMA related kinase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from Laboissonniere et al., 2018
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| amyotrophic lateral sclerosis type 24 | Alliance | {Amyotrophic lateral sclerosis, susceptibility to, 24} | 617892 |
| short-rib thoracic dysplasia 6 with or without polydactyly | Alliance | Short-rib thoracic dysplasia 6 with or without polydactyly | 263520 |
| ?Orofaciodigital syndrome II | 252100 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Serine/threonine-protein kinase, active site |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M3AW79
|
1412 | ||||
|
UniProtKB:A0A8M3AT70
|
1391 | ||||
|
UniProtKB:A0A8M3B435
|
1413 | ||||
|
UniProtKB:A0A8M3B439
|
1383 | ||||
|
UniProtKB:A0A8M3ALI1
|
1412 | ||||
|
UniProtKB:A0A8M3AKT9
|
1384 |
Interactions and Pathways
No data available
Plasmids
No data available