Affinage

NEK1

Serine/threonine-protein kinase Nek1 · UniProt Q96PY6

Length
1258 aa
Mass
142.8 kDa
Annotated
2026-06-10
83 papers in source corpus 34 papers cited in narrative 33 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

NEK1 is a NIMA-related dual-specificity serine/threonine/tyrosine protein kinase that operates as a multifunctional hub coordinating genome stability, ciliogenesis, mitochondrial integrity, and cytoskeletal homeostasis through phosphorylation of a broad substrate set (PMID:1382974, PMID:27264870). In the DNA damage response, NEK1 is activated by TLK1-mediated phosphorylation at Thr141 and acts through an ATR–ATRIP module—physically associating with the complex, sustaining ATRIP levels and basal ATR activity, and enabling efficient ATR/Chk1 activation after damage (PMID:23345434, PMID:28426283); it promotes homologous recombination by phosphorylating Rad54 at Ser572 in G2 to drive Rad51 removal from chromatin, an event that must be withheld in S phase to preserve replication fork stability (PMID:27264870). NEK1 controls programmed cell death by phosphorylating VDAC1 at Ser193, closing the channel to block cytochrome c efflux and excessive mitochondrial permeability (PMID:19158487, PMID:20230784). At the basal body/centrosome, NEK1 is required for primary ciliogenesis, acting in part through substrates and partners that regulate ciliary stability, including phosphorylation of pVHL at Ser168 and of TAZ to control polycystin-2 levels (PMID:18533026, PMID:18387364, PMID:23255108, PMID:21474562); loss-of-function mutations in mouse Nek1 cause polycystic kidney disease and pleiotropic developmental phenotypes (PMID:10618398). NEK1 forms a tight, mutually stabilizing complex with C21ORF2 via its C-terminal C21ORF2-interaction domain, an association required for both ciliogenesis and homologous recombination (PMID:37188479, PMID:32891887). In neurons NEK1 maintains microtubule homeostasis and nuclear import by phosphorylating α-tubulin and importin-β1, and ALS-associated loss-of-function variants disrupt these pathways and primary cilia (PMID:37585529, PMID:40389989). NEK1 additionally governs meiotic chromosome segregation through a PDS5B–PP1γ–WAPL axis controlling cohesin removal, and regulates retromer trafficking via VPS26B phosphorylation (PMID:27760328, PMID:34376696). Mutant NEK1 protein is cleared through PML nuclear body-dependent SUMOylation, and PML induction reduces ALS pathology in a Nek1 mutant mouse model (PMID:41804597).

Mechanistic history

Synthesis pass · year-by-year structured walk · 33 steps
  1. 1992 High

    Established the foundational biochemical identity of NEK1 as a catalytically active kinase, answering what enzymatic activity it possesses.

    Evidence In vitro kinase assay with bacterially expressed kinase domain showing phosphorylation of Ser/Thr/Tyr on beta-casein

    PMID:1382974

    Open questions at the time
    • No physiological substrates identified
    • No information on regulation or localization in cells
  2. 2000 High

    Linked NEK1 loss to disease at the organismal level, revealing it as a pleiotropic regulator of kidney and developmental homeostasis.

    Evidence Positional cloning and characterization of kat/kat2J loss-of-function mouse alleles with polycystic kidney disease and multiorgan phenotypes

    PMID:10618398

    Open questions at the time
    • Molecular substrates underlying phenotypes not defined
    • Mechanism connecting kinase activity to cystogenesis unknown
  3. 2003 Medium

    Mapped the NEK1 regulatory domain interactome, implicating it in cilia/PKD biology, DNA repair, and neural development.

    Evidence Yeast two-hybrid screen with domain mapping identifying KIF3A, tuberin, alpha-catulin and repair/development factors

    PMID:14690447

    Open questions at the time
    • Interactions not confirmed by orthogonal methods
    • No functional consequence established
  4. 2006 Medium

    Resolved NEK1 subcellular distribution, showing cytoplasmic localization despite NLS sequences and a NIMA-like effect on chromatin when forced nuclear.

    Evidence Subcellular fractionation, immunofluorescence, and nuclear-targeted overexpression in mammalian cells

    PMID:16603261

    Open questions at the time
    • Physiological role of nuclear pool unclear
    • Endogenous shuttling not yet demonstrated
  5. 2008 High

    Placed NEK1 at the basal body and established it as required for primary ciliogenesis, defining a ciliary-targeting region.

    Evidence Immunofluorescence and overexpression/kinase-dead analysis in MDCK and IMCD3 cells across two papers

    PMID:18387364 PMID:18533026

    Open questions at the time
    • Ciliary substrates not identified
    • Mechanism of ciliogenesis control unknown
  6. 2009 High

    Identified VDAC1 as a direct NEK1 substrate at Ser193, defining a mitochondrial anti-apoptotic function.

    Evidence Yeast two-hybrid, GST pulldown, reciprocal Co-IP, in vitro kinase assay, and phospho-mutant rescue of mitochondrial permeability

    PMID:19158487

    Open questions at the time
    • Channel-level mechanism not yet shown
    • Upstream activation of NEK1 toward VDAC1 unknown
  7. 2009 Medium

    Defined functional NLS/NES signals enabling NEK1 nucleocytoplasmic shuttling, providing a route to couple ciliary signals to the nucleus.

    Evidence NES inhibitor treatment and fluorescence localization with functional signal identification

    PMID:19699716

    Open questions at the time
    • Nuclear targets of shuttling not identified
    • Regulation of shuttling unknown
  8. 2010 High

    Provided the structural mechanism by which VDAC1-S193 phosphorylation gates cytochrome c release.

    Evidence AFM channel conformation analysis and liposome cytochrome c conductance assay with phospho-mutant VDAC1

    PMID:20230784

    Open questions at the time
    • In vivo channel state under physiological signaling not measured
    • Crosstalk with other apoptotic regulators unaddressed
  9. 2010 Medium

    Positioned NEK1 as an early actor in the DNA damage response and G2/M checkpoint.

    Evidence Stable knockdown with comet assay, phospho-Chk1 immunoblot, and cell cycle flow cytometry across multiple damaging agents

    PMID:20501547

    Open questions at the time
    • Direct repair substrates not identified
    • Epistasis with canonical checkpoint kinases not resolved here
  10. 2011 Medium

    Demonstrated NEK1 is required for genome stability and tumor suppression, linking its loss to aneuploidy and transformation.

    Evidence Loss-of-function mouse genetics, colony transformation, syngeneic tumor assay, and karyotyping

    PMID:21214959

    Open questions at the time
    • Mechanistic basis of mis-segregation not defined
    • Single lab
  11. 2011 Medium

    Placed NEK1 parallel to or upstream of ATM/ATR, distinguishing its DNA damage role from canonical apical kinases.

    Evidence ATM/ATR chemical inhibitors and knockouts with NEK1 kinase activity and damage-foci localization assays

    PMID:21301226

    Open questions at the time
    • Sensing mechanism upstream of NEK1 unknown
    • Later work refined the ATR relationship
  12. 2011 Medium

    Revealed a meiotic role in cohesin redistribution, explaining NEK1-dependent male infertility.

    Evidence Nek1kat2J mutant mouse spermatocyte analysis with SMC3 immunostaining of chromosome spreads

    PMID:21931878

    Open questions at the time
    • Molecular mechanism of cohesin removal not yet defined here
    • Substrates unknown at this stage
  13. 2011 Medium

    Connected NEK1 to ciliary homeostasis through a TAZ-dependent control of polycystin-2 with a NEK1–TAZ feedback loop.

    Evidence Co-IP, in vitro kinase assay, mutant expression, and PC2 immunoblotting

    PMID:21474562

    Open questions at the time
    • TAZ phosphosite not mapped
    • Single lab
  14. 2012 Medium

    Identified pVHL Ser168 as a NEK1 substrate coupling NEK1 to ciliary stability via VHL degradation.

    Evidence In vitro kinase assay, S168A mutagenesis, and reconstitution/ciliation assay in VHL-deficient cells

    PMID:23255108

    Open questions at the time
    • In vivo relevance to ciliopathy not established
    • Single lab
  15. 2013 High

    Defined a direct NEK1–ATR–ATRIP relationship in which NEK1 sustains ATRIP levels, ATR–ATRIP association, and ATR activity.

    Evidence Reciprocal Co-IP, kinase activity assays, siRNA, epistasis, and ATR substrate phosphorylation analysis

    PMID:23345434

    Open questions at the time
    • Whether ATR is a direct NEK1 substrate not resolved
    • Single lab
  16. 2013 Medium

    Extended NEK1 function to S-phase progression via Ku80 and replication factor chromatin loading.

    Evidence Co-IP, chromatin fractionation, BrdU incorporation, and flow cytometry

    PMID:23851348

    Open questions at the time
    • Direct phosphorylation of replication factors not shown
    • Single lab
  17. 2015 Medium

    Identified C21ORF2 as a NEK1 partner acting in the same homologous recombination pathway.

    Evidence Co-IP, siRNA, HR/NHEJ reporter assays, and rescue by NEK1 overexpression

    PMID:26290490

    Open questions at the time
    • Molecular basis of the interaction not yet defined
    • Single lab
  18. 2016 High

    Mechanistically defined NEK1's HR role by identifying Rad54-S572 as a cell-cycle-gated substrate balancing recombination against fork stability.

    Evidence In vitro kinase assay, phospho-specific antibody, S572A/S572E mutants, HR and Rad51 foci assays, and DNA fiber replication assays

    PMID:27264870

    Open questions at the time
    • Regulation of NEK1 G2-specificity not fully explained
    • Single lab
  19. 2016 High

    Delineated the meiotic cohesin-removal mechanism through a NEK1–PDS5B–PP1γ–WAPL axis.

    Evidence Co-IP, PP1γ phospho-substrate analysis, Nek1 knockout mouse, and meiotic spread immunostaining

    PMID:27760328

    Open questions at the time
    • PP1γ phosphosite not mapped
    • Single lab
  20. 2016 Medium

    Provided a structural link to cilia assembly by showing NEK1 binds CEP104 via its zinc-finger array and competes with CP110.

    Evidence Biochemical/structural studies, Co-IP, and CP110 competition binding assay

    PMID:28017521

    Open questions at the time
    • Functional consequence of competition in ciliogenesis not demonstrated
    • Single lab
  21. 2017 High

    Identified TLK1 as the upstream activator phosphorylating NEK1-Thr141, defining a TLK1→NEK1→ATR→Chk1 DNA damage axis.

    Evidence Co-IP, proteomic screen, in vitro kinase assay, T141A mutant functional studies, and ATR/Chk1 activation assays

    PMID:28426283

    Open questions at the time
    • Activation-loop conformational consequence of T141 phosphorylation not structurally resolved
    • Single lab
  22. 2017 High

    Provided the crystal structure of the NEK1 kinase domain, enabling inhibitor design.

    Evidence X-ray crystallography of apo and inhibitor-bound kinase domain plus cisplatin-induced interactome proteomics

    PMID:28710492

    Open questions at the time
    • Full-length and regulatory-domain structure not solved
    • Single lab
  23. 2017 Medium

    Extended NEK1's meiotic role to spindle assembly via regulation of ADD1 and MYO10.

    Evidence Nek1 knockout mouse, meiotic spindle immunostaining, ADD1-MYO10 Co-IP, and phospho-ADD1 immunoblot

    PMID:28982183

    Open questions at the time
    • Direct phosphorylation of ADD1 by NEK1 not formally shown
    • Single lab
  24. 2019 High

    Identified VPS26B as a NEK1 substrate, defining a role in retromer trafficking and blood-brain barrier integrity via A20/RIPK1.

    Evidence Phosphoproteomics, in vitro kinase assay, NEK1 knockout mice, RIPK1 genetic inactivation, and BBB permeability assays

    PMID:34376696

    Open questions at the time
    • VPS26B phosphosite functional mapping incomplete
    • Single lab
  25. 2020 Medium

    Connected NEK1 to YAP1 stabilization, defining a TLK1→NEK1→YAP1 transcriptional axis.

    Evidence In vitro kinase assay at six YAP1 sites, Co-IP, NEK1 knockout, and YAP-target gene expression analysis

    PMID:33297404

    Open questions at the time
    • Functional site(s) not pinpointed here
    • Single lab
  26. 2020 Medium

    Placed TLK1 upstream of the NEK1-VDAC1 apoptotic axis via T141 phosphorylation.

    Evidence NEK1-T141A overexpression with mitochondrial respiration, cytochrome c fractionation, and sub-G1 flow cytometry

    PMID:31914854

    Open questions at the time
    • Direct demonstration that T141 phosphorylation alters VDAC1 phosphorylation kinetics limited
    • Single lab
  27. 2020 Medium

    Defined a reciprocal stabilization between NEK1 and C21ORF2 controlled by phosphorylation and FBXO3-mediated degradation, with an ALS mutant escaping turnover.

    Evidence Co-IP, ubiquitination and protein stability assays, in vitro kinase assay, and C21ORF2-V58L mutant analysis

    PMID:32891887

    Open questions at the time
    • C21ORF2 phosphosite not mapped
    • Single lab
  28. 2023 High

    Identified α-tubulin and importin-β1 as NEK1 substrates, linking NEK1 to microtubule homeostasis and nuclear import in motor neurons.

    Evidence MS interactome, in vitro kinase assays, iPSC-MN loss-of-function models, and microtubule-stabilizer rescue with two drug classes

    PMID:37585529

    Open questions at the time
    • Phosphosites on tubulin/importin-β1 not mapped
    • Single lab
  29. 2023 High

    Mapped the C21ORF2-interaction domain at the NEK1 C-terminus and showed the complex is required for ciliogenesis and HR, with pathogenic mutations disrupting it.

    Evidence Endogenous Co-IP, AlphaFold modeling, domain mapping with pathogenic mutants, and ciliogenesis/HR assays

    PMID:37188479

    Open questions at the time
    • High-resolution experimental structure of the complex not solved
    • Single lab
  30. 2023 Medium

    Refined the NEK1-YAP1 mechanism to a Y407 phosphorylation event promoting nuclear retention and AR/TEAD1-driven transcription.

    Evidence In vitro kinase site mapping, phospho-specific antibody, ChIP, Y407F transcriptome, and TLK1 inhibitor (J54)

    PMID:36979713

    Open questions at the time
    • In vivo relevance of Y407 not established
    • Single lab
  31. 2024 Medium

    Connected ALS NEK1 variants to ciliary defects and tubulin acetylation loss through an AurA-HDAC6/calcium pathway.

    Evidence Patient fibroblast and iPSC-MN studies with calcium imaging, HDAC6 assays, and pharmacological rescue

    PMID:40389989

    Open questions at the time
    • Direct NEK1 substrate in this axis not defined
    • Single lab
  32. 2025 Low

    Linked a NEK1 C-terminal truncation in skeletal ciliopathy to loss of the VDAC1-interaction region.

    Evidence Whole-exome sequencing, minigene splicing assay, and bioinformatic interaction prediction

    PMID:40147672

    Open questions at the time
    • Direct phosphorylation of VDAC1 by the truncated protein not experimentally demonstrated
    • Reliance on computational prediction
  33. 2025 High

    Established PML nuclear body-dependent SUMO clearance of mutant NEK1 as a therapeutic vulnerability in ALS.

    Evidence Nek1 R812Ter knock-in mice, Pml knockout cross, poly(I:C) induction, aggregate immunofluorescence, and survival analysis

    PMID:41804597

    Open questions at the time
    • Direct SUMO sites on NEK1t not mapped
    • Mechanism of PML recognition of mutant NEK1 unresolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • How NEK1 selects among its many substrates across distinct compartments and cell-cycle stages, and how its activation, localization, and the C21ORF2 complex are coordinated to partition between DNA repair, ciliogenesis, mitochondrial, and neuronal functions, remains unresolved.
  • No unified model of substrate-targeting specificity
  • Structural basis of full-length NEK1–C21ORF2 complex unsolved
  • How a single kinase coordinates spatially distinct functions unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140096 catalytic activity, acting on a protein 9 GO:0016740 transferase activity 5 GO:0140657 ATP-dependent activity 2
Localization
GO:0005634 nucleus 3 GO:0005739 mitochondrion 2 GO:0005829 cytosol 2 GO:0005815 microtubule organizing center 1 GO:0005929 cilium 1
Pathway
R-HSA-73894 DNA Repair 4 R-HSA-1474165 Reproduction 3 R-HSA-1640170 Cell Cycle 3 R-HSA-1852241 Organelle biogenesis and maintenance 3 R-HSA-5357801 Programmed Cell Death 3 R-HSA-5653656 Vesicle-mediated transport 1
Complex memberships
ATR-ATRIP complexNEK1-C21ORF2 complex

Evidence

Reading pass · 33 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1992 NEK1 (Nek1) is a dual-specificity kinase that phosphorylates substrates on serine, threonine, AND tyrosine residues in vitro; its kinase domain expressed in bacteria phosphorylated exogenous substrates (preferentially beta-casein) on all three hydroxyamino acids. The kinase domain is most similar (42% identity) to the catalytic domain of NIMA, and like NIMA, Nek1 has a long basic C-terminal extension. In vitro kinase assay with bacterial expression of kinase domain; substrate phosphorylation on Ser/Thr/Tyr characterized The EMBO journal High 1382974
2000 Loss-of-function mutations in Nek1 (partial internal deletion in kat; single-base insertion in kat2J) cause polycystic kidney disease and pleiotropic phenotypes (facial dysmorphism, dwarfing, male sterility, anemia, cystic choroid plexus) in mice, establishing that Nek1 participates in multiple signaling pathways regulating diverse cellular processes including kidney tubular homeostasis. Positional cloning, mutant mouse genetic analysis, molecular characterization of mutations Proceedings of the National Academy of Sciences of the United States of America High 10618398
2003 The central coiled-coil region of the human NEK1 regulatory domain interacts with KIF3A (a motor protein involved in PKD), tuberin, alpha-catulin, and proteins involved in DNA double-strand break repair and neural development, as identified by yeast two-hybrid screening of a fetal brain cDNA library. Yeast two-hybrid screen using NEK1 kinase and regulatory domains as baits; domain mapping of interactions to central coiled-coil region Biochemistry Medium 14690447
2006 Full-length murine Nek1 localizes to the cytoplasm despite containing two classical nuclear localization signals, with the C-terminus bearing cytoplasmic localization signals. Ectopic overexpression of nuclear-targeted Nek1 constructs causes abnormal chromatin condensation (DNA confined to nuclear periphery) and nuclear pore complex dispersal, without mitotic or apoptotic markers—phenotypically similar to NIMA overexpression. Subcellular fractionation, immunofluorescence, ectopic overexpression of nuclear-targeted constructs in mammalian cells Biochimica et biophysica acta Medium 16603261
2008 Nek1 localizes to the basal body region of primary cilia. Overexpression of full-length Nek1 inhibits ciliogenesis in IMCD3 cells without disrupting centrosomes. Overexpression of the kinase domain alone (lacking the acidic regulatory domain) causes centrosome loss and secondary ciliogenesis failure. Both effects require kinase activity and the coiled-coil domain. A ciliary targeting region was defined within the coiled-coil domain. Immunofluorescence localization, overexpression/kinase-dead mutant analysis in MDCK and IMCD3 cells, kinase-inactivating mutations BMC cell biology High 18387364 18533026
2009 Nek1 associates with VDAC1 (voltage-dependent anion channel 1) at mitochondria and phosphorylates VDAC1 at Ser193. Loss of Nek1 or expression of kinase-dead Nek1 results in loss of VDAC1-S193 phosphorylation, exaggerated mitochondrial membrane permeability, and accelerated cell death. A phospho-mimic VDAC1-S193E rescues excessive MMP and transiently keeps cells alive after DNA damage; phospho-deficient VDAC1-S193A causes constitutive cell death. Yeast two-hybrid, GST pull-down, reciprocal co-immunoprecipitation, in vitro kinase assay, ectopic expression of phospho-mimic/phospho-deficient VDAC1 mutants, mitochondrial permeability assays Cell cycle (Georgetown, Tex.) High 19158487
2009 NEK1 contains functional nuclear localization signals and a nuclear export signal-dependent export pathway, cycling through the nucleus. This nucleocytoplasmic shuttling suggests NEK1 can transduce signals from the ciliary-basal body region to nuclear gene expression. Nuclear export signal inhibitor treatment, fluorescence localization, functional NLS/NES identification Biochemical and biophysical research communications Medium 19699716
2010 Phosphorylation of VDAC1 at Ser193 by Nek1 closes the VDAC1 channel and prevents cytochrome c efflux. Unphosphorylated (wild-type or S193A) VDAC1 adopts an open configuration and allows cytochrome c release; phospho-mimic S193E VDAC1 remains closed and prevents cytochrome c leakage in liposome reconstitution assays. Atomic force microscopy (AFM) of VDAC1 channel conformation, liposome-based cytochrome c conductance assay, in vitro kinase phosphorylation, phospho-mutant (S193A, S193E) constructs Biochemical and biophysical research communications High 20230784
2010 Nek1 knockdown causes a delay in DNA repair after treatment with MMS, H2O2, and cisplatin; reduces Chk1 phosphorylation in response to cisplatin; and abrogates the G2/M arrest normally induced by MMS and H2O2 damage, establishing Nek1 as an early actor in the DNA damage response and G2/M checkpoint. Stable siRNA knockdown, comet assay, phospho-Chk1 immunoblot, flow cytometry cell cycle analysis Mutagenesis Medium 20501547
2011 NEK1-deficient cells undergo major errors in mitotic chromosome segregation and cytokinesis, becoming aneuploid. These cells transform and form tumors in syngeneic mice. NEK1+/− mice develop lymphomas with higher incidence than wild-type, establishing NEK1 as required for genome stability at multiple junctures. Loss-of-function mouse genetics, colony transformation assay, tumor injection in syngeneic mice, karyotype analysis Molecular cancer Medium 21214959
2011 Nek1 functions independently of ATM and ATR kinases in the DNA damage response: chemical inhibitors or genetic loss of ATM/ATR do not alter Nek1 kinase activity or its localization to nuclear DNA damage foci, and ATM/ATR activities are intact in Nek1-null cells, placing Nek1 in a parallel or upstream DNA damage sensing pathway. Chemical inhibitors of ATM/ATR, ATM/ATR genetic knockouts, kinase activity assays, immunofluorescence of damage foci Cell cycle (Georgetown, Tex.) Medium 21301226
2011 Loss of NEK1 in murine spermatocytes results in failure to remove cohesin (SMC3) from meiotic chromosome cores at the end of prophase I, causing complete male infertility, demonstrating a role for NEK1 in cohesin redistribution during meiotic prophase I. Nek1kat2J mutant mouse analysis, immunostaining of meiotic chromosome spreads for SMC3 cohesin Genes Medium 21931878
2011 Nek1 phosphorylates TAZ at a site essential for TAZ's ubiquitination and proteasomal targeting of polycystin 2 (PC2). Loss of Nek1 leads to underphosphorylation of TAZ and abnormal accumulation of PC2. TAZ in turn targets Nek1 for degradation, forming a negative feedback loop linking Nek1 and TAZ to maintain PC2 levels and proper ciliogenesis. Co-immunoprecipitation, in vitro kinase assay, mutant expression, western blotting for PC2 levels Journal of the American Society of Nephrology : JASN Medium 21474562
2012 Nek1 phosphorylates the VHL tumor suppressor protein (pVHL) at multiple sites including Ser168, leading to pVHL proteasomal degradation. Phosphorylation at Ser168 regulates cilia stability: non-phosphorylatable pVHL (S168A) reconstituted in VHL-deficient cells induces more stable cilia than wild-type VHL, linking Nek1-mediated pVHL phosphorylation to ciliary homeostasis. In vitro kinase assay, site-directed mutagenesis (S168A), reconstitution in VHL-deficient cells, ciliation assay Cell cycle (Georgetown, Tex.) Medium 23255108
2013 Nek1 associates with ATR-ATRIP complex, is required for maintaining ATRIP protein levels, the ATR-ATRIP association, and basal ATR kinase activity even in undamaged cells. Upon DNA damage, Nek1 is required for efficient phosphorylation of multiple ATR substrates and ATR autophosphorylation at T1989. The pro-ATR activity of Nek1 requires its own kinase activity and its physical interaction with ATR-ATRIP. Co-immunoprecipitation, kinase activity assays, siRNA knockdown, epistasis analysis, ATR substrate phosphorylation assays Proceedings of the National Academy of Sciences of the United States of America High 23345434
2013 Nek1 interacts with Ku80 and is required for chromatin loading of Ku80 and multiple DNA replication factors during S phase. Nek1 deficiency causes severe S-phase delay, replication stress, and checkpoint activation under normal growth conditions, identifying a role for Nek1 in S-phase progression via Ku80 interaction. Co-immunoprecipitation, chromatin fractionation, BrdU incorporation assay, flow cytometry Cell cycle (Georgetown, Tex.) Medium 23851348
2015 C21ORF2 physically interacts with NEK1. C21ORF2 depletion impairs homologous recombination (but not NHEJ) after ionizing radiation damage, and this defect is rescued by NEK1 overexpression, placing C21ORF2 in the same DNA damage repair pathway as NEK1. Co-immunoprecipitation, siRNA knockdown, HR/NHEJ reporter assays, rescue by NEK1 overexpression Acta biochimica et biophysica Sinica Medium 26290490
2016 NEK1 phosphorylates Rad54 at Ser572 specifically in late G2 phase to promote homologous recombination. Nek1 deficiency or unphosphorylatable Rad54-S572A causes unresolved Rad51 foci and HR defects; phospho-mimic Rad54-S572E promotes HR and rescues Nek1-loss HR defects. G2-specific phosphorylation promotes Rad51 removal from chromatin. In S phase, absence of this phosphorylation is required for replication fork stability, as phospho-mimic Rad54 in S phase causes Rad51 removal and fork degradation. In vitro kinase assay, phospho-specific antibody, site-directed mutagenesis (S572A, S572E), HR assay, Rad51 foci analysis, replication fork stability assay (DNA fiber assay) Molecular cell High 27264870
2016 NEK1 regulates cohesin removal during meiotic prophase I via an NEK1–PDS5B–PP1γ–WAPL axis. NEK1 interacts with PDS5B and phosphorylates PP1γ; PP1γ dephosphorylates WAPL, enabling its retention on chromosome cores and promoting loss of cohesion at the end of prophase I in mammals. Co-immunoprecipitation, phospho-substrate analysis, Nek1 knockout mouse, immunostaining of meiotic chromosome spreads Cell reports High 27760328
2016 CEP104, a ciliopathy protein involved in cilia formation and length regulation, interacts with NEK1 through NEK1's C2HC zinc finger array. NEK1 competes with the centriole-capping protein CP110 for binding to Cep104, providing a structural link between NEK1 and cilia assembly regulation. Structural studies (biochemical), co-immunoprecipitation, competition binding assay between NEK1 and CP110 for Cep104 Structure (London, England : 1993) Medium 28017521
2017 TLK1 (Tousled-Like Kinase 1) directly interacts with and phosphorylates NEK1 at Thr141 within the kinase domain, activating NEK1. This TLK1→NEK1→ATR→Chk1 pathway mediates the DNA damage response. The phospho-deficient NEK1-T141A mutant impairs ATR and Chk1 activation after DNA damage and alters cell cycle response to oxidative stress. TLK1-NEK1 co-relocalize to nuclear repair foci with γH2AX after doxorubicin. Co-immunoprecipitation, proteomic screen, in vitro kinase assay (TLK1 phosphorylating NEK1-T141), NEK1-T141A mutant overexpression, ATR/Chk1 activation assays, immunofluorescence Cell cycle (Georgetown, Tex.) High 28426283
2017 The crystal structure of the NEK1 kinase domain was solved in apo and ATP-mimetic inhibitor-bound forms, revealing structural basis for inhibitor specificity and providing a template for rational drug design. X-ray crystallography of NEK1 kinase domain (apo and inhibitor-bound); dynamic protein interactome characterized by proteomics after cisplatin treatment Scientific reports High 28710492
2017 NEK1 regulates meiosis I spindle assembly: loss of NEK1 causes elongated and/or multipolar meiotic spindles and abnormal chromosome congression. NEK1 regulates protein levels and localization of α-adducin (ADD1) and myosin X (MYO10) on meiotic spindles. Hyperphosphorylation of ADD1 in NEK1 mutants prevents its interaction with MYO10, disrupting spindle architecture. Nek1 knockout mouse, immunostaining of meiotic spindles, co-immunoprecipitation of ADD1-MYO10, western blot of phospho-ADD1 PloS one Medium 28982183
2019 NEK1 regulates retromer-mediated endosomal trafficking by phosphorylating VPS26B. NEK1 deficiency disrupts endosomal trafficking of plasma membrane proteins and leads to lysosomal degradation of A20 (a RIPK1 modulator), sensitizing cerebrovascular endothelial cells to RIPK1-dependent apoptosis and necroptosis, thus disrupting blood-brain barrier integrity. Phosphoproteomics, in vitro kinase assay (NEK1 phosphorylating VPS26B), NEK1 knockout mice, genetic inactivation of RIPK1, metabolic rescue studies, BBB permeability assays Nature communications High 34376696
2020 NEK1 phosphorylates YAP1 at six residues in vitro, and NEK1 co-immunoprecipitates with YAP1. NEK1 overexpression leads to YAP1 accumulation (stabilization); NEK1 knockout leads to parallel decrease in YAP1 levels and reduced YAP-regulated gene expression, establishing a TLK1→NEK1→YAP1 axis. In vitro kinase assay (NEK1 phosphorylating YAP1 at 6 sites), co-immunoprecipitation, NEK1 knockout in NT1 cells, gene expression analysis Cancers Medium 33297404
2020 TLK1-mediated phosphorylation of Nek1-T141 promotes VDAC1 phosphorylation and mitochondrial integrity. Cells overexpressing the NEK1-T141A phospho-deficient mutant show exaggerated apoptosis, altered mitochondrial oxygen consumption, increased glycolysis dependence, and cytochrome C leakage after doxorubicin treatment, placing TLK1 upstream of the Nek1-VDAC1 axis in apoptosis regulation. NEK1-T141A overexpression, mitochondrial respiration assays, cytochrome C fractionation, flow cytometry (sub-G1), western blot Cell cycle (Georgetown, Tex.) Medium 31914854
2020 FBXO3 (substrate receptor of an SCF E3 ubiquitin ligase) binds and ubiquitylates C21ORF2 for proteasomal degradation. NEK1-mediated phosphorylation of C21ORF2 stabilizes it by reducing its interaction with FBXO3. C21ORF2 in turn stabilizes NEK1. The ALS-associated C21ORF2-V58L mutant is hyperphosphorylated by NEK1, escapes FBXO3-mediated degradation, and accumulates with NEK1. Co-immunoprecipitation, ubiquitination assay, in vitro kinase assay, protein stability assay, mutant analysis iScience Medium 32891887
2023 NEK1 phosphorylates α-tubulin and importin-β1 in vitro. NEK1 loss-of-function (knockdown, kinase inhibition, patient mutation) causes disruptions in microtubule homeostasis and nuclear import in iPSC-derived motor neurons. Microtubule stabilization (with two distinct drug classes) restores both microtubule and nuclear import deficits, identifying NEK1 as a regulator of both pathways. Mass spectrometry interactome analysis, in vitro kinase assay (α-tubulin, importin-β1), iPSC-MN models (knockdown, kinase inhibitor, patient mutation), microtubule and nuclear import functional assays, pharmacological rescue Science advances High 37585529
2023 Endogenous NEK1 and C21ORF2 form a tight complex in human cells. A C21ORF2 interaction domain (CID) at the NEK1 C-terminus is necessary for the association, and pathogenic mutations in this region disrupt the complex. NEK1 mutations that inhibit kinase activity or weaken C21ORF2 association severely compromise ciliogenesis, and C21ORF2 (like NEK1) is required for homologous recombination. Co-immunoprecipitation of endogenous proteins, AlphaFold structural modeling, domain mapping with pathogenic mutants, ciliogenesis assay, HR assay Life science alliance High 37188479
2023 NEK1 phosphorylates YAP1 at Y407, and this phosphorylation promotes YAP1 nuclear retention and association with transcriptional co-activators AR and TEAD1. Pharmacological inhibition of TLK1 (J54) reverses Y407 phosphorylation and promotes cytoplasmic degradation of YAP1, suppressing androgen-independent transcriptional reprogramming. In vitro kinase assay (Y407 site identification), phospho-specific antibody, ChIP assay, GFP-YAP mutant (Y407F) transcriptome analysis, pharmacological inhibitor (J54) Biomedicines Medium 36979713
2024 NEK1 loss-of-function ALS variants cause primary ciliary abnormality, cell cycle re-entry, and disrupted tubulin acetylation via AurA-HDAC6 pathway activation triggered by intracellular calcium overload. HDAC6 inhibition or Ca2+ chelation (BAPTA) rescues these deficits in patient fibroblasts and iPSC-MNs. Patient fibroblast and iPSC-MN studies, primary cilia immunostaining, calcium imaging, HDAC6 activity assay, tubulin acetylation western blot, pharmacological rescue Molecular neurodegeneration Medium 40389989
2025 A novel NEK1 intronic variant causing SRPS eliminates the C-terminal 90 residues of NEK1 following the last coiled-coil region. This C-terminal fragment mediates interaction with VDAC1, and its absence is predicted to abolish VDAC1 phosphorylation by NEK1, linking NEK1 C-terminal truncation to ciliogenesis defects via disrupted VDAC1 regulation. Whole-exome sequencing, minigene splicing assay, bioinformatic protein interaction prediction, domain mapping of NEK1-VDAC1 interaction Bone Low 40147672
2025 PML (promyelocytic leukemia protein) promotes SUMO-facilitated degradation of truncated/mutant Nek1t protein through PML nuclear bodies. In mice, PML ablation worsens ALS in heterozygous Nek1wt/t animals, and PML induction (via interferon pathway activation with poly(I:C)) clears Nek1t aggregates in alpha-motoneurons, dramatically reducing ALS symptoms and extending survival by 5 months. Nek1 Arg812Ter knock-in mice, Pml knockout cross, poly(I:C) induction, immunofluorescence of Nek1t aggregates, survival analysis, SUMO pathway analysis The FEBS journal High 41804597

Source papers

Stage 0 corpus · 83 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2016 NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nature genetics 222 27455347
2011 NEK1 mutations cause short-rib polydactyly syndrome type majewski. American journal of human genetics 149 21211617
1992 A mammalian dual specificity protein kinase, Nek1, is related to the NIMA cell cycle regulator and highly expressed in meiotic germ cells. The EMBO journal 141 1382974
2000 Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice. Proceedings of the National Academy of Sciences of the United States of America 140 10618398
2008 The mammalian Nek1 kinase is involved in primary cilium formation. FEBS letters 88 18387364
2016 Nek1 Regulates Rad54 to Orchestrate Homologous Recombination and Replication Fork Stability. Molecular cell 81 27264870
2009 Nek1 regulates cell death and mitochondrial membrane permeability through phosphorylation of VDAC1. Cell cycle (Georgetown, Tex.) 78 19158487
2008 The NIMA-family kinase, Nek1 affects the stability of centrosomes and ciliogenesis. BMC cell biology 70 18533026
2011 Nek1 kinase functions in DNA damage response and checkpoint control through a pathway independent of ATM and ATR. Cell cycle (Georgetown, Tex.) 66 21301226
2018 NEK1 loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons. Stem cell research 64 29929116
2015 The NEK1 interactor, C21ORF2, is required for efficient DNA damage repair. Acta biochimica et biophysica Sinica 64 26290490
2013 Nek1 kinase associates with ATR-ATRIP and primes ATR for efficient DNA damage signaling. Proceedings of the National Academy of Sciences of the United States of America 63 23345434
2013 The Toxoplasma gondii centrosome is the platform for internal daughter budding as revealed by a Nek1 kinase mutant. Journal of cell science 63 23729737
2003 Identification of proteins that interact with the central coiled-coil region of the human protein kinase NEK1. Biochemistry 63 14690447
2011 Mutation of NIMA-related kinase 1 (NEK1) leads to chromosome instability. Molecular cancer 60 21214959
2010 Nek1 silencing slows down DNA repair and blocks DNA damage-induced cell cycle arrest. Mutagenesis 59 20501547
2012 NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. Journal of medical genetics 53 22499340
2010 Phosphorylation by Nek1 regulates opening and closing of voltage dependent anion channel 1. Biochemical and biophysical research communications 46 20230784
2021 NEK1-mediated retromer trafficking promotes blood-brain barrier integrity by regulating glucose metabolism and RIPK1 activation. Nature communications 41 34376696
2019 Targeting the TLK1/NEK1 DDR axis with Thioridazine suppresses outgrowth of androgen independent prostate tumors. International journal of cancer 40 30737777
1993 A Trypanosoma brucei gene family encoding protein kinases with catalytic domains structurally related to Nek1 and NIMA. Molecular and biochemical parasitology 39 8515773
2017 NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients. Neurobiology of aging 38 28935222
2019 The TLK1-Nek1 axis promotes prostate cancer progression. Cancer letters 37 30928383
2020 The TLK1/Nek1 axis contributes to mitochondrial integrity and apoptosis prevention via phosphorylation of VDAC1. Cell cycle (Georgetown, Tex.) 35 31914854
2017 Identification of the proteome complement of humanTLK1 reveals it binds and phosphorylates NEK1 regulating its activity. Cell cycle (Georgetown, Tex.) 33 28426283
2017 NEK1 kinase domain structure and its dynamic protein interactome after exposure to Cisplatin. Scientific reports 33 28710492
2016 The Ciliopathy-Associated Cep104 Protein Interacts with Tubulin and Nek1 Kinase. Structure (London, England : 1993) 32 28017521
2016 Cohesin Removal along the Chromosome Arms during the First Meiotic Division Depends on a NEK1-PP1γ-WAPL Axis in the Mouse. Cell reports 29 27760328
2017 Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations. Journal of human genetics 28 28123176
2011 Nek1 and TAZ interact to maintain normal levels of polycystin 2. Journal of the American Society of Nephrology : JASN 28 21474562
2023 Loss of function of the ALS-associated NEK1 kinase disrupts microtubule homeostasis and nuclear import. Science advances 26 37585529
2020 An Amyotrophic Lateral Sclerosis-Associated Mutant of C21ORF2 Is Stabilized by NEK1-Mediated Hyperphosphorylation and the Inability to Bind FBXO3. iScience 26 32891887
2020 NEK1 Phosphorylation of YAP Promotes Its Stabilization and Transcriptional Output. Cancers 25 33297404
2017 Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese. Genome medicine 25 29149916
2016 Frequent Nek1 overexpression in human gliomas. Biochemical and biophysical research communications 25 27251576
1999 NIMA-related kinases: isolation and characterization of murine nek3 and nek4 cDNAs, and chromosomal localization of nek1, nek2 and nek3. Gene 25 10393247
2015 Kinase inhibitor profile for human nek1, nek6, and nek7 and analysis of the structural basis for inhibitor specificity. Molecules (Basel, Switzerland) 24 25591119
2014 Increased Nek1 expression in renal cell carcinoma cells is associated with decreased sensitivity to DNA-damaging treatment. Oncotarget 22 24970796
2006 Nek1 shares structural and functional similarities with NIMA kinase. Biochimica et biophysica acta 22 16603261
2017 NIMA-related kinase 1 (NEK1) regulates meiosis I spindle assembly by altering the balance between α-Adducin and Myosin X. PloS one 21 28982183
2012 Nek1 phosphorylates Von Hippel-Lindau tumor suppressor to promote its proteasomal degradation and ciliary destabilization. Cell cycle (Georgetown, Tex.) 21 23255108
2021 NEK1 mutations and the risk of amyotrophic lateral sclerosis (ALS): a meta-analysis. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 20 33462636
2021 NEK1 deficiency affects mitochondrial functions and the transcriptome of key DNA repair pathways. Mutagenesis 20 33740813
2022 NEK1 Variants in a Cohort of Italian Patients With Amyotrophic Lateral Sclerosis. Frontiers in neuroscience 19 35495032
2018 Mutation screening of NEK1 in Chinese ALS patients. Neurobiology of aging 18 30093141
2023 Functional characterization of C21ORF2 association with the NEK1 kinase mutated in human in diseases. Life science alliance 16 37188479
2016 Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome). European journal of human genetics : EJHG 16 27530628
2013 Nek1 interacts with Ku80 to assist chromatin loading of replication factors and S-phase progression. Cell cycle (Georgetown, Tex.) 16 23851348
2012 Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene. Taiwanese journal of obstetrics & gynecology 16 22482978
2009 FEZ1 interacts with CLASP2 and NEK1 through coiled-coil regions and their cellular colocalization suggests centrosomal functions and regulation by PKC. Molecular and cellular biochemistry 15 19924516
2019 VHL regulates NEK1 via both HIF-2α pathway and ubiquitin-proteasome pathway in renal cancer cell. Biochemical and biophysical research communications 14 30635121
2012 Giardia lamblia Nek1 and Nek2 kinases affect mitosis and excystation. International journal for parasitology 14 22429767
2020 Hand-onset weakness is a common feature of ALS patients with a NEK1 loss-of-function variant. Annals of clinical and translational neurology 13 32462798
2012 Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene. Taiwanese journal of obstetrics & gynecology 13 22795106
2011 NEK1 Facilitates Cohesin Removal during Mammalian Spermatogenesis. Genes 13 21931878
2009 The NIMA-related kinase NEK1 cycles through the nucleus. Biochemical and biophysical research communications 13 19699716
2024 Plasmodium NEK1 coordinates MTOC organisation and kinetochore attachment during rapid mitosis in male gamete formation. PLoS biology 12 39255311
2021 Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis. Human molecular genetics 12 33445179
2023 NEK1-Mediated Phosphorylation of YAP1 Is Key to Prostate Cancer Progression. Biomedicines 11 36979713
2022 Nek1-inhibitor and temozolomide-loaded microfibers as a co-therapy strategy for glioblastoma treatment. International journal of pharmaceutics 10 35202726
2014 Expression of Nek1 during kidney development and cyst formation in multiple nephron segments in the Nek1-deficient kat2J mouse model of polycystic kidney disease. Journal of biomedical science 10 25030234
2025 Mutations in NEK1 cause ciliary dysfunction as a novel pathogenic mechanism in amyotrophic lateral sclerosis. Molecular neurodegeneration 9 40389989
2024 ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons. Acta neuropathologica communications 9 39227882
2022 LINC00883 Promotes Drug Resistance of Glioma Through a microRNA-136/NEK1-Dependent Mechanism. Frontiers in oncology 9 35083134
2024 Clinicopathological analysis of NEK1 variants in amyotrophic lateral sclerosis. Brain pathology (Zurich, Switzerland) 8 38986433
2020 Fractionation-Dependent Radiosensitization by Molecular Targeting of Nek1. Cells 8 32429458
2022 Genetic and clinical characteristics of ALS patients with NEK1 gene variants. Neurobiology of aging 7 36443167
2021 Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia. Frontiers in genetics 6 34149817
2021 Illuminating a Dark Kinase: Structure-Guided Design, Synthesis, and Evaluation of a Potent Nek1 Inhibitor and Its Effects on the Embryonic Zebrafish Pronephros. Journal of medicinal chemistry 6 35081715
2025 METTL1-mediated m7G modification of NEK1 mRNA promotes the proliferation of oral squamous cell carcinoma. Biochimica et biophysica acta. Molecular basis of disease 5 40562282
2020 NEK1 and GRN mutations coexist in a sporadic Chinese Hui descent ALS patient. Amyotrophic lateral sclerosis & frontotemporal degeneration 5 32772750
2024 NEK1 haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in C9ORF72 patient-derived iPSC-motoneurons. Human molecular genetics 4 39222049
2025 Exploring NEK1 genetic variability in Italian amyotrophic lateral sclerosis patients. Journal of neurology 3 40536530
2024 TLK1>Nek1 Axis Promotes Nuclear Retention and Activation of YAP with Implications for Castration-Resistant Prostate Cancer. Cancers 3 39199688
2022 A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants. Ophthalmic genetics 3 36341712
2021 Design, synthesis and biological evaluation of novel aminopyrazole- and 7-azaindole-based Nek1 inhibitors and their effects on zebrafish kidney development. Bioorganic & medicinal chemistry letters 3 34715306
2025 The Molecular Intersection of NEK1, C21ORF2, Cyclin F, and VCP in ALS Pathogenesis. Genes 2 40282367
2024 Association between NEK1 gene polymorphisms and the potential risk of sporadic Parkinson's disease in the Chinese Northern Han population: A case-control study. Neuroscience letters 2 39032803
2026 Pml loss worsens NEK1-linked ALS and Pml induction drives NEK1 degradation, precluding disease onset. The FEBS journal 0 41804597
2026 NEK1 Promotes Ovarian Cancer Progression via p53 Suppression While Enhancing Sensitivity to Genotoxic Therapy. Current issues in molecular biology 0 42193091
2026 NEK1 variants and reduced protein levels in Chinese ALS patients: a descriptive study. Frontiers in aging neuroscience 0 42253371
2025 A novel NEK1 variant disturbs the interaction between the C-terminal fragment of NEK1 and the VDAC1 channel, causing lethal short-rib polydactyly syndrome. Bone 0 40147672
2025 A novel frameshift mutation in the NEK1 gene causing amyotrophic lateral sclerosis: A case report and literature review. Neurogenetics 0 41144030

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