Homo sapiens Protein: NEK1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-481670.4 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | NEK1 | ||||||||||||||||||||||
Protein Name | NIMA (never in mitosis gene a)-related kinase 1 | ||||||||||||||||||||||
Synonyms | NY-REN-55; SRPS2; SRPS2A; SRTD6; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000424938 | ||||||||||||||||||||||
InnateDB Gene | IDBG-44149 (NEK1) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity. Implicated in the control of meiosis (By similarity). Involved in cilium assembly. In response to injury that includes DNA damage, NEK1 phosphorylates VDAC1 to limit mitochondrial cell death. {ECO:0000250, ECO:0000269PubMed:20230784, ECO:0000269PubMed:21211617}. | ||||||||||||||||||||||
Subcellular Localization | Nucleus {ECO:0000305PubMed:21211617}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Note=Associated with the pericentriolar material. Localizes to centrosome during interphase and mitosis (By similarity). {ECO:0000250}. | ||||||||||||||||||||||
Disease Associations | Short-rib thoracic dysplasia 6 with or without polydactyly (SRTD6) [MIM:263520]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269PubMed:22499340}. Note=The disease is caused by mutations affecting the gene represented in this entry. In some cases NEK1 mutations result in disease phenotype in the presence of mutations in DYNC2H1 indicating digenic inheritance (digenic short rib-polydactyly syndrome 3/6 with polydactyly) (PubMed:21211617). {ECO:0000269PubMed:21211617}. | ||||||||||||||||||||||
Tissue Specificity | High fetal expression in the brain and kidney. {ECO:0000269PubMed:21211617}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000719
Protein kinase domain IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain IPR011009 Protein kinase-like domain IPR020635 Tyrosine-protein kinase, catalytic domain |
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PFAM |
PF00069
PF07714 |
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PRINTS |
PR00109
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PIRSF | |||||||||||||||||||||||
SMART |
SM00220
SM00219 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q96PY6 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q96PY6 | ||||||||||||||||||||||
TrEMBL | Q5JXL9 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 4750 | ||||||||||||||||||||||
UniGene | Hs.712780 | ||||||||||||||||||||||
RefSeq | NP_001186328 | ||||||||||||||||||||||
HUGO | HGNC:7744 | ||||||||||||||||||||||
OMIM | 604588 | ||||||||||||||||||||||
CCDS | CCDS56348 | ||||||||||||||||||||||
HPRD | 06847 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB067488 AC084724 AC116615 AC116621 AF155113 AK025658 AK027580 AL050385 BC015147 BC037790 BC114491 CH471056 CR933642 | ||||||||||||||||||||||
GenPept | AAD42879 AAH15147 AAH37790 AAI14492 BAB15207 BAB55209 BAB67794 CAI45943 CAI46225 EAX04791 | ||||||||||||||||||||||