Aliases for NEK1 Gene
External Ids for NEK1 Gene
Previous GeneCards Identifiers for NEK1 Gene
The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
GeneCards Summary for NEK1 Gene
NEK1 (NIMA Related Kinase 1) is a Protein Coding gene. Diseases associated with NEK1 include Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly and Amyotrophic Lateral Sclerosis 24. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is NEK5.
UniProtKB/Swiss-Prot for NEK1 Gene
Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity (By similarity). Involved in DNA damage checkpoint control and for proper DNA damage repair. In response to injury that includes DNA damage, NEK1 phosphorylates VDAC1 to limit mitochondrial cell death (PubMed:20230784). May be implicated in the control of meiosis (By similarity). Involved in cilium assembly (PubMed:21211617).