NIMA-related kinase 1

Last updated
NEK1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases NEK1 , NY-REN-55, SRPS2, SRPS2A, SRTD6, NIMA related kinase 1, ALS24
External IDs OMIM: 604588 MGI: 97303 HomoloGene: 14376 GeneCards: NEK1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001293637
NM_001293638
NM_001293639
NM_175089

RefSeq (protein)

NP_001280566
NP_001280567
NP_001280568
NP_780298

Location (UCSC) Chr 4: 169.37 – 169.61 Mb Chr 8: 61.45 – 61.58 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

NIMA (never in mitosis gene a)-related kinase 1, also known as NEK1, is a human gene highly expressed in germ cells and thought to be involved in meiosis. It is also involved in the response to DNA damage from radiation; defects in this gene can be a cause of polycystic kidney disease. [5] NEK1 is thought to be involved in amytrophic lateral sclerosis. [6] [7]

The gene was discovered by researchers with Project MinE, with the ALS Association providing funding raised through the Ice Bucket Challenge. [8]

See also

Related Research Articles

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000137601 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031644 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "NEK1 NIMA related kinase 1 [Homo sapiens (human)] - Gene - NCBI" . Retrieved 28 July 2016.
  6. "Ice Bucket Challenge funds gene discovery in ALS (MND) research - BBC News". BBC. 2016-07-27. Retrieved 2016-07-27.
  7. Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, et al. (July 2016). "NEK1 variants confer susceptibility to amyotrophic lateral sclerosis". Nature Genetics. 48 (9): 1037–42. doi:10.1038/ng.3626. PMC   5560030 . PMID   27455347.
  8. "ALS Ice Bucket Challenge Donations Lead to Significant Gene Discovery". July 25, 2016. Archived from the original on July 28, 2016. Retrieved February 8, 2017.

Further reading