NIMA-related kinase 1

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]

NEK1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesNEK1, NY-REN-55, SRPS2, SRPS2A, SRTD6, NIMA related kinase 1, ALS24
External IDsOMIM: 604588 MGI: 97303 HomoloGene: 14376 GeneCards: NEK1
Gene location (Human)
Chr.Chromosome 4 (human)[1]
Band4q33Start169,392,857 bp[1]
End169,612,629 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

4750

18004

Ensembl

ENSG00000137601

ENSMUSG00000031644

UniProt

Q96PY6

P51954

RefSeq (mRNA)

NM_001293637
NM_001293638
NM_001293639
NM_175089

RefSeq (protein)

NP_001280566
NP_001280567
NP_001280568
NP_780298

Location (UCSC)Chr 4: 169.39 – 169.61 MbChr 8: 60.99 – 61.13 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000137601 - Ensembl, May 2017
  2. 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.

Further reading


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