NEK1
entrez
4750
canonical
uniprot
Q96PY6
canonical
ensembl
ENSG00000137601
resolver
ensp
ENSP00000408020
resolver
ensp
ENSP00000423332
resolver
ensp
ENSP00000424757
resolver
ensp
ENSP00000424938
resolver
ensp
ENSP00000427653
resolver
ensp
ENSP00000508689
resolver
ensp
ENSP00000510228
resolver
ensp
ENSP00000529112
resolver
ensp
ENSP00000529113
resolver
ensp
ENSP00000698717
resolver
ensp
ENSP00000698718
resolver
ensp
ENSP00000733534
resolver
ensp
ENSP00000733535
resolver
ensp
ENSP00000782499
resolver
enst
ENST00000686697
resolver
genesymbol
NEK1
resolver
genesymbol_syn
KIAA1901
resolver
hgnc
HGNC:7744
resolver
uniprot
A0A8I5KUL6
resolver
uniprot
G5E9Z3
resolver
uniprot
Q05DG5
resolver
uniprot
Q14CB7
resolver
uniprot
Q5H9T1
resolver
uniprot
Q6PIB8
resolver
uniprot
Q96SS2
resolver
uniprot
Q9H6P7
resolver
uniprot
Q9Y594
resolver
uniprot_entry
A0A8I5KUL6_HUMAN
resolver
uniprot_entry
NEK1_HUMAN
resolver
uniprot_sec
G5E9Z3
resolver
uniprot_sec
Q05DG5
resolver
uniprot_sec
Q14CB7
resolver
uniprot_sec
Q5H9T1
resolver
uniprot_sec
Q6PIB8
resolver
uniprot_sec
Q96SS2
resolver
uniprot_sec
Q9H6P7
resolver
uniprot_sec
Q9Y594
resolver
amino_acid_sequence
MEKYVRLQKIGEGSFGKAILVKSTEDGRQYVIKEINISRMSSKEREESRREVAVLANMKHPNIVQYRESFEENGSLYIVMDYCEGGDLFKRINAQKGVLFQEDQILDWFVQICLALKHVHDRKILHRDIKSQNIFLTKDGTVQLGDFGIARVLNSTVELARTCIGTPYYLSPEICENKPYNNKSDIWALGCVLYELCTLKHAFEAGSMKNLVLKIISGSFPPVSLHYSYDLRSLVSQLFKRNPRDRPSVNSILEKGFIAKRIEKFLSPQLIAEEFCLKTFSKFGSQPIPAKRPASGQNSISVMPAQKITKPAAKYGIPLAYKKYGDKKLHEKKPLQKHKQAHQTPEKRVNTGEERRKISEEAARKRRLEFIEKEKKQKDQIISLMKAEQMKRQEKERLERINRAREQGWRNVLSAGGSGEVKAPFLGSGGTIAPSSFSSRGQYEHYHAIFDQMQQQRAEDNEAKWKREIYGRGLPERGILPGVRPGFPYGAAGHHHFPDADDIRKTLKRLKAVSKQANANRQKGQLAVERAKQVEEFLQRKREAMQNKARAEGHMVYLARLRQIRLQNFNERQQIKAKLRGEKKEANHSEGQEGSEEADMRRKKIESLKAHANARAAVLKEQLERKRKEAYEREKKVWEEHLVAKGVKSSDVSPPLGQHETGGSPSKQQMRSVISVTSALKEVGVDSSLTDTRETSEEMQKTNNAISSKREILRRLNENLKAQEDEKGKQNLSDTFEINVHEDAKEHEKEKSVSSDRKKWEAGGQLVIPLDELTLDTSFSTTERHTVGEVIKLGPNGSPRRAWGKSPTDSVLKILGEAELQLQTELLENTTIRSEISPEGEKYKPLITGEKKVQCISHEINPSAIVDSPVETKSPEFSEASPQMSLKLEGNLEEPDDLETEILQEPSGTNKDESLPCTITDVWISEEKETKETQSADRITIQENEVSEDGVSSTVDQLSDIHIEPGTNDSQHSKCDVDKSVQPEPFFHKVVHSEHLNLVPQVQSVQCSPEESFAFRSHSHLPPKNKNKNSLLIGLSTGLFDANNPKMLRTCSLPDLSKLFRTLMDVPTVGDVRQDNLEIDEIEDENIKEGPSDSEDIVFEETDTDLQELQASMEQLLREQPGEEYSEEEESVLKNSDVEPTANGTDVADEDDNPSSESALNEEWHSDNSDGEIASECECDSVFNHLEELRLHLEQEMGFEKFFEVYEKIKAIHEDEDENIEICSKIVQNILGNEHQHLYAKILHLVMADGAYQEDNDE
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:22499340}. Note=The disease is caused by variants 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:0000269|PubMed:21211617}.; DISEASE: Amyotrophic lateral sclerosis 24 (ALS24) [MIM:617892]: A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269|PubMed:26945885, ECO:0000269|PubMed:27455347}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Orofaciodigital syndrome 2 (OFD2) [MIM:252100]: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD2 is an autosomal recessive form characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies, maxillary hypoplasia, conductive hearing loss, polydactyly, syndactyly, brachydactyly, and mesomelic lower limb shortening. {ECO:0000269|PubMed:27530628}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.11.1
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:P51954, ECO:0000269|PubMed:20230784, ECO:0000269|PubMed:21211617}.
uniprot
proteins
mass_dalton
142828
uniprot
proteins
protein_family
NEK Ser/Thr protein kinase family
uniprot
proteins
protein_family
NIMA subfamily
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
pubmed
10508479
uniprot
proteins
pubmed
11572484
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15604234
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
18843199
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
20230784
uniprot
proteins
pubmed
21211617
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22499340
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26167768
uniprot
proteins
pubmed
26945885
uniprot
proteins
pubmed
27455347
uniprot
proteins
pubmed
27530628
uniprot
proteins
sequence_length
1258
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15604234, ECO:0000305|PubMed:21211617}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:P51954}. Cytoplasm {ECO:0000269|PubMed:18843199}. Note=Associated with the pericentriolar material (PubMed:21211617). Localizes to centrosome during interphase and mitosis (By similarity). Translocated from cytoplasm to discrete nuclear foci at sites of DNA damage (PubMed:15604234). {ECO:0000250|UniProtKB:P51954, ECO:0000269|PubMed:15604234, ECO:0000269|PubMed:21211617}.
uniprot
proteins