NEK1 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | NEK1 |
| Official Name | NIMA related kinase 1 [Source:HGNC Symbol;Acc:HGNC:7744] |
| Ensembl ID | ENSG00000137601 |
| Bio databases IDs | |
| Aliases | NIMA related kinase 1 |
| Synonyms | ALS24, D8Ertd790e, kat, LOC103690126, LOC51037, NIMA (never in mitosis gene a)-related expressed kinase 1, NIMA-related kinase 1, NY-REN-55, OFD2, SRPS2, SRPS2A, SRTD6 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NEK1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- Serine/Threonine protein kinases, catalytic domain
- kinase domain
- protein serine/threonine kinase
- Protein kinase (unclassified specificity)
- protein kinase
- regulatory domain
- Protein Kinases, catalytic domain
- Protein tyrosine and serine/threonine kinase
- protein binding
- Protein kinase domain
- Tyrosine kinase, catalytic domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- short-rib thoracic dysplasia type 6
- susceptibility to amyotrophic lateral sclerosis type 24
- short rib thoracic dysplasia type 6 with polydactyly
- schizophrenia
- short-rib thoracic dysplasia type 6 without polydactyly
- digenic short rib thoracic dysplasia 3/6 with polydactyly
- esophageal adenocarcinoma
- esophageal carcinoma formation
- motor neuron disease
- connective tissue disorder
role in cell
- apoptosis
- dissociation
- survival
- replication in
- DNA damage response
- assembly
- ciliogenesis in
- serine phosphorylation in
- homologous recombination in
- duplication
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cilia
- centrosome
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NEK1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell division
- cilium morphogenesis
- protein phosphorylation
Cellular Component
Where in the cell the gene product is active
- pericentriolar material
- nucleus
- centrosome
- cytoplasm
- centriolar satellite
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein tyrosine kinase activity
- protein binding
- metal ion binding
- protein kinase activity
- protein serine/threonine kinase activity
- kinase activity
- 14-3-3 protein binding