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 MAP3K4.
UniProtKB/Swiss-Prot Summary for NEK1 Gene
Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity (PubMed:20230784). Involved in DNA damage checkpoint control and for proper DNA damage repair (PubMed:20230784). 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).