Property Summary

NCBI Gene PubMed Count 33
PubMed Score 44.00
PubTator Score 25.82

Knowledge Summary

Patent (1,615)

Expression

  Differential Expression (11)

Disease log2 FC p
Rheumatoid Arthritis 1.400 1.4e-03
astrocytic glioma 1.100 8.9e-03
osteosarcoma 1.107 2.1e-04
tuberculosis and treatment for 6 months -1.700 4.9e-06
posterior fossa group B ependymoma 1.100 3.8e-05
Pick disease 1.500 3.0e-07
progressive supranuclear palsy -1.600 4.8e-03
ovarian cancer 1.800 4.2e-04
chronic rhinosinusitis -1.342 7.5e-03
cystic fibrosis and chronic rhinosinusit... -1.212 6.0e-03
dermatomyositis 1.100 6.9e-04

Pathway (1)

MLP Assay (1)

AID Type Active / Inconclusive / Inactive Description
1982 other 0 / 0 / 0 Kinase inhibition selectivity assay for compound SID-48409448

Gene RIF (15)

PMID Text
26290490 C21ORF2 functions in the same pathway as NEK1 in DNA damage repair.
23851348 Nek1 may facilitate S-phase progression by interacting with Ku80 and regulating chromatin loading of replication factors.
23345434 as an ATR-associated kinase, Nek1 enhances the stability and activity of ATR-ATRIP before DNA damage, priming ATR-ATRIP for a robust DNA damage response
23255108 Nek1 may suppress cilia by phosphorylating pVHL, which is critical to microtubule stabilization and ciliary stability.
22499340 This study confirms that NEK1 is one gene causing SRP type II but also reports mutations in DYNC2H1, expanding the phenotypic spectrum of DYNC2H1 mutations.
22482978 The present case provides evidence for a correlation of NEK1 mutation with short rib-polydactyly syndrome type II (Majewski.
21301226 results demonstrate that Nek1 is important for proper checkpoint control and characterize for the first time a DNA damage response that does not directly involve one of the known upstream mediator kinases, ATM or ATR
21211617 absence of functional full-length NEK1 severely reduces cilia number and alters ciliar morphology in vivo.
20800603 Observational study of gene-disease association. (HuGE Navigator)
20501547 Nek1 is involved in the beginning of the cellular response to genotoxic stress and plays an important role in preventing cell death induced by DNA damage.
20230784 these data provide a mechanism to explain how Nek1 regulates cell death by affecting the opening and closing of VDAC1.
19924516 Data report that NEK1 and CLASP2 colocalize with FEZ1 in a perinuclear region in mammalian cells, and observed that coiled-coil interactions occur between FEZ1/CLASP2 and FEZ1/NEK1 in vitro.
18843199 These data show that Nek1 is important for efficient DNA damage checkpoint control and for proper DNA damage repair.
15604234 Nek1 may function as a kinase early in the DNA damage response pathway.
14690447 Mapping studies of NEK1 regulatory domain indicate interaction with most of the proteins known to take part in etiology of polycystic kidney disease, in double-strand DNA break repair at the G2/M cell-cycle transition phase, or in neural cell development.

AA Sequence

MEKYVRLQKIGEGSFGKAILVKSTEDGRQYVIKEINISRMSSKEREESRREVAVLANMKHPNIVQYRESF      1 - 70
EENGSLYIVMDYCEGGDLFKRINAQKGVLFQEDQILDWFVQICLALKHVHDRKILHRDIKSQNIFLTKDG     71 - 140
TVQLGDFGIARVLNSTVELARTCIGTPYYLSPEICENKPYNNKSDIWALGCVLYELCTLKHAFEAGSMKN    141 - 210
LVLKIISGSFPPVSLHYSYDLRSLVSQLFKRNPRDRPSVNSILEKGFIAKRIEKFLSPQLIAEEFCLKTF    211 - 280
SKFGSQPIPAKRPASGQNSISVMPAQKITKPAAKYGIPLAYKKYGDKKLHEKKPLQKHKQAHQTPEKRVN    281 - 350
TGEERRKISEEAARKRRLEFIEKEKKQKDQIISLMKAEQMKRQEKERLERINRAREQGWRNVLSAGGSGE    351 - 420
VKAPFLGSGGTIAPSSFSSRGQYEHYHAIFDQMQQQRAEDNEAKWKREIYGRGLPERGILPGVRPGFPYG    421 - 490
AAGHHHFPDADDIRKTLKRLKAVSKQANANRQKGQLAVERAKQVEEFLQRKREAMQNKARAEGHMVYLAR    491 - 560
LRQIRLQNFNERQQIKAKLRGEKKEANHSEGQEGSEEADMRRKKIESLKAHANARAAVLKEQLERKRKEA    561 - 630
YEREKKVWEEHLVAKGVKSSDVSPPLGQHETGGSPSKQQMRSVISVTSALKEVGVDSSLTDTRETSEEMQ    631 - 700
KTNNAISSKREILRRLNENLKAQEDEKGKQNLSDTFEINVHEDAKEHEKEKSVSSDRKKWEAGGQLVIPL    701 - 770
DELTLDTSFSTTERHTVGEVIKLGPNGSPRRAWGKSPTDSVLKILGEAELQLQTELLENTTIRSEISPEG    771 - 840
EKYKPLITGEKKVQCISHEINPSAIVDSPVETKSPEFSEASPQMSLKLEGNLEEPDDLETEILQEPSGTN    841 - 910
KDESLPCTITDVWISEEKETKETQSADRITIQENEVSEDGVSSTVDQLSDIHIEPGTNDSQHSKCDVDKS    911 - 980
VQPEPFFHKVVHSEHLNLVPQVQSVQCSPEESFAFRSHSHLPPKNKNKNSLLIGLSTGLFDANNPKMLRT    981 - 1050
CSLPDLSKLFRTLMDVPTVGDVRQDNLEIDEIEDENIKEGPSDSEDIVFEETDTDLQELQASMEQLLREQ   1051 - 1120
PGEEYSEEEESVLKNSDVEPTANGTDVADEDDNPSSESALNEEWHSDNSDGEIASECECDSVFNHLEELR   1121 - 1190
LHLEQEMGFEKFFEVYEKIKAIHEDEDENIEICSKIVQNILGNEHQHLYAKILHLVMADGAYQEDNDE     1191 - 1258
//

Text Mined References (43)

PMID Year Title
27455347 2016 NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.
26945885 2016 NEK1 mutations in familial amyotrophic lateral sclerosis.
26290490 2015 The NEK1 interactor, C21ORF2, is required for efficient DNA damage repair.
26167768 2015 An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
24947832 2014 Differential protein-protein interactions of LRRK1 and LRRK2 indicate roles in distinct cellular signaling pathways.
24510904 2014 Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23851348 2013 Nek1 interacts with Ku80 to assist chromatin loading of replication factors and S-phase progression.
23345434 2013 Nek1 kinase associates with ATR-ATRIP and primes ATR for efficient DNA damage signaling.
23255108 2013 Nek1 phosphorylates Von Hippel-Lindau tumor suppressor to promote its proteasomal degradation and ciliary destabilization.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22499340 2012 NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
22482978 2012 Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene.
21399614 2011 Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods.
21301226 2011 Nek1 kinase functions in DNA damage response and checkpoint control through a pathway independent of ATM and ATR.
21269460 2011 Initial characterization of the human central proteome.
21211617 2011 NEK1 mutations cause short-rib polydactyly syndrome type majewski.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
20501547 2010 Nek1 silencing slows down DNA repair and blocks DNA damage-induced cell cycle arrest.
20230784 2010 Phosphorylation by Nek1 regulates opening and closing of voltage dependent anion channel 1.
19924516 2010 FEZ1 interacts with CLASP2 and NEK1 through coiled-coil regions and their cellular colocalization suggests centrosomal functions and regulation by PKC.
19369195 2009 Large-scale proteomics analysis of the human kinome.
19158487 2009 Nek1 regulates cell death and mitochondrial membrane permeability through phosphorylation of VDAC1.
18843199 2008 Never-in-mitosis related kinase 1 functions in DNA damage response and checkpoint control.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17344846 2007 Patterns of somatic mutation in human cancer genomes.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15604234 2004 NIMA-related protein kinase 1 is involved early in the ionizing radiation-induced DNA damage response.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15345747 2004 Phosphoproteomic analysis of the developing mouse brain.
15231747 2004 A protein interaction framework for human mRNA degradation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14690447 2003 Identification of proteins that interact with the central coiled-coil region of the human protein kinase NEK1.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11572484 2001 Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins.
10508479 1999 Antigens recognized by autologous antibody in patients with renal-cell carcinoma.
8274451 1993 Identification of 21 novel human protein kinases, including 3 members of a family related to the cell cycle regulator nimA of Aspergillus nidulans.
1382974 1992 A mammalian dual specificity protein kinase, Nek1, is related to the NIMA cell cycle regulator and highly expressed in meiotic germ cells.