NEK1

NEK1 is a NIMA-related serine/threonine protein kinase with an N-terminal catalytic domain and an extended regulatory region. It forms a stable cellular complex with CFAP410 (C21ORF2) and acts in primary-cilium assembly and genome maintenance. NEK1 kinase activity limits centriole microtubule elongation through a pathway operating alongside CP110-CEP97, and is required for normal ciliogenesis, while nuclear and cytoplasmic pools support DNA-damage checkpoint signaling and homologous-recombination repair. NEK1 helps maintain the ATR-ATRIP signaling complex and also phosphorylates VDAC1 in a mitochondrial-associated pathway that limits injury-induced cell death. In human motor-neuron models, NEK1 loss also perturbs microtubule homeostasis and nuclear import. Biallelic loss of function causes skeletal ciliopathies, and other NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.