Identity
HGNC
LOCATION
4q33
LOCUSID
ALIAS
ALS24,NY-REN-55,SRPS2,SRPS2A,SRTD6
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4750
MIM: 604588
HGNC: 7744
Ensembl: ENSG00000137601
Variants:
dbSNP: 4750
ClinVar: 4750
TCGA: ENSG00000137601
COSMIC: NEK1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36341712 | 2023 | A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants. | 1 |
| 36443167 | 2023 | Genetic and clinical characteristics of ALS patients with NEK1 gene variants. | 0 |
| 37188479 | 2023 | Functional characterization of C21ORF2 association with the NEK1 kinase mutated in human in diseases. | 2 |
| 36341712 | 2023 | A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants. | 1 |
| 36443167 | 2023 | Genetic and clinical characteristics of ALS patients with NEK1 gene variants. | 0 |
| 37188479 | 2023 | Functional characterization of C21ORF2 association with the NEK1 kinase mutated in human in diseases. | 2 |
| 35613520 | 2022 | NEK1 and STMN2 short tandem repeat lengths are not associated with Australian amyotrophic lateral sclerosis risk. | 0 |
| 35613520 | 2022 | NEK1 and STMN2 short tandem repeat lengths are not associated with Australian amyotrophic lateral sclerosis risk. | 0 |
| 32920598 | 2021 | Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population. | 5 |
| 33445179 | 2021 | Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis. | 4 |
| 33462636 | 2021 | NEK1 mutations and the risk of amyotrophic lateral sclerosis (ALS): a meta-analysis. | 7 |
| 33740813 | 2021 | NEK1 deficiency affects mitochondrial functions and the transcriptome of key DNA repair pathways. | 4 |
| 32920598 | 2021 | Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population. | 5 |
| 33445179 | 2021 | Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis. | 4 |
| 33462636 | 2021 | NEK1 mutations and the risk of amyotrophic lateral sclerosis (ALS): a meta-analysis. | 7 |
Citation
Dessen P
NEK1 (NIMA related kinase 1)
Atlas Genet Cytogenet Oncol Haematol. 2006-10-01
Online version: http://atlasgeneticsoncology.org/gene/43369/nek1
