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]

PDBOrtholog search: PDBe RCSB

AliasesNEK1, NY-REN-55, SRPS2, SRPS2A, SRTD6, NIMA related kinase 1, ALS24

External IDsOMIM: 604588; MGI: 97303; HomoloGene: 14376; GeneCards: NEK1; OMA:NEK1 - orthologs

Chr.Chromosome 4 (human)^[1]

Quick facts NEK1, Available structures ...

NEK1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4APC, 4B9D
Identifiers
Aliases	NEK1, NY-REN-55, SRPS2, SRPS2A, SRTD6, NIMA related kinase 1, ALS24
External IDs	OMIM: 604588; MGI: 97303; HomoloGene: 14376; GeneCards: NEK1; OMA:NEK1 - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q33 Start 169,369,704 bp[1] End 169,612,632 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 B3.1|8 30.91 cM Start 61,446,229 bp[2] End 61,584,380 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte trigeminal ganglion spinal ganglia optic nerve sural nerve internal globus pallidus sperm pars reticulata pars compacta lactiferous duct Top expressed in sciatic nerve zygote secondary oocyte vestibular sensory epithelium trigeminal ganglion facial motor nucleus cumulus cell lumbar spinal ganglion iris ciliary body More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity protein kinase activity nucleotide binding metal ion binding kinase activity protein binding protein tyrosine kinase activity ATP binding protein serine/threonine kinase activity 14-3-3 protein binding Cellular component cytoplasm centrosome pericentriolar material microtubule organizing center cytoskeleton nucleus Biological process phosphorylation cell division protein phosphorylation cell projection organization cell cycle peptidyl-tyrosine phosphorylation cilium assembly regulation of mitotic cell cycle signal transduction stress-activated protein kinase signaling cascade activation of protein kinase activity regulation of apoptotic process cellular response to DNA damage stimulus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4750 18004 Ensembl ENSG00000137601 ENSMUSG00000031644 UniProt Q96PY6 P51954 RefSeq (mRNA) NM_001199397 NM_001199398 NM_001199399 NM_001199400 NM_012224 NM_001374418 NM_001374419 NM_001374420 NM_001374421 NM_001374422 NM_001374423 NM_001293637 NM_001293638 NM_001293639 NM_175089 RefSeq (protein) NP_001186326 NP_001186327 NP_001186328 NP_001186329 NP_036356 NP_001361347 NP_001361348 NP_001361349 NP_001361350 NP_001361351 NP_001361352 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]
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The gene was discovered by researchers with Project MinE, with the ALS Association providing funding raised through the Ice Bucket Challenge.^[8]