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Nek1 NIMA (never in mitosis gene a)-related expressed kinase 1 [ Mus musculus (house mouse) ]

Gene ID: 18004, updated on 28-Oct-2024

Summary

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Official Symbol
Nek1provided by MGI
Official Full Name
NIMA (never in mitosis gene a)-related expressed kinase 1provided by MGI
Primary source
MGI:MGI:97303
See related
Ensembl:ENSMUSG00000031644 AllianceGenome:MGI:97303
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
kat; D8Ertd790e
Summary
Enables 14-3-3 protein binding activity. Involved in regulation of DNA damage checkpoint. Acts upstream of or within several processes, including DNA damage response; response to ionizing radiation; and spermatogenesis. Located in centrosome and nucleus. Is expressed in several structures, including ganglia; gut; hemolymphoid system gland; metanephros; and reproductive system. Used to study autosomal recessive polycystic kidney disease. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis type 24; asphyxiating thoracic dystrophy; orofaciodigital syndrome II; and short-rib thoracic dysplasia 6 with or without polydactyly. Orthologous to human NEK1 (NIMA related kinase 1). [provided by Alliance of Genome Resources, Oct 2024]
Expression
Ubiquitous expression in CNS E18 (RPKM 7.0), frontal lobe adult (RPKM 6.9) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Nek1 in Genome Data Viewer
Location:
8 B3.1; 8 30.91 cM
Exon count:
35
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (61446184..61584383)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (60993157..61131349)

Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer mm9_chr8:63369016-63369317 Neighboring gene histone PARylation factor 1 Neighboring gene chloride channel, voltage-sensitive 3 Neighboring gene STARR-seq mESC enhancer starr_21578 Neighboring gene predicted gene, 18394 Neighboring gene STARR-positive B cell enhancer ABC_E10500 Neighboring gene STARR-positive B cell enhancer ABC_E6639 Neighboring gene STARR-positive B cell enhancer ABC_E11383 Neighboring gene STARR-seq mESC enhancer starr_21581 Neighboring gene SH3 domain containing ring finger 1 Neighboring gene RIKEN cDNA 1700001D01 gene Neighboring gene predicted gene, 40499

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Mutation of NIMA-related kinase 1 (NEK1) leads to chromosome instability. Chen Y, et al. Mol Cancer, 2011 Jan 10. PMID 21214959, Free PMC Article
  2. The NIMA-family kinase, Nek1 affects the stability of centrosomes and ciliogenesis. White MC, et al. BMC Cell Biol, 2008 Jun 4. PMID 18533026, Free PMC Article
  3. The mammalian Nek1 kinase is involved in primary cilium formation. Shalom O, et al. FEBS Lett, 2008 Apr 30. PMID 18387364
  4. Nek1 shares structural and functional similarities with NIMA kinase. Feige E, et al. Biochim Biophys Acta, 2006 Mar. PMID 16603261
  5. Clinical and pathologic findings in two new allelic murine models of polycystic kidney disease. Vogler C, et al. J Am Soc Nephrol, 1999 Dec. PMID 10589692

See all (49) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons.
    Title: ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons.
  2. NEK1-mediated retromer trafficking promotes blood-brain barrier integrity by regulating glucose metabolism and RIPK1 activation.
    Title: NEK1-mediated retromer trafficking promotes blood-brain barrier integrity by regulating glucose metabolism and RIPK1 activation.
  3. NEK1 phosphorylates PP1gamma, leading to the dephosphorylation of WAPL, which, in turn, results in its retention on chromosome cores to promote loss of cohesion at the end of prophase I in mammals.
    Title: Cohesin Removal along the Chromosome Arms during the First Meiotic Division Depends on a NEK1-PP1γ-WAPL Axis in the Mouse.
  4. Reduction in ADD1 protein in NEK1 mutant mice is associated with hyperphosphorylation of ADD1, thereby preventing the interaction with MYO10 during meiotic spindle formation
    Title: NIMA-related kinase 1 (NEK1) regulates meiosis I spindle assembly by altering the balance between α-Adducin and Myosin X.
  5. Nek1 is detectable in all murine tissues but its expression in wild type and kat2J heterozygous kidneys decrease as the kidneys mature. In the embryonic kidney, Nek1 expression is most prominent in cells that will become podocytes and proximal tubules.
    Title: Expression of Nek1 during kidney development and cyst formation in multiple nephron segments in the Nek1-deficient kat2J mouse model of polycystic kidney disease.
  6. 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
    Title: Nek1 kinase functions in DNA damage response and checkpoint control through a pathway independent of ATM and ATR.
  7. data suggest that TAZ and Nek1 constitute a negative feedback loop linked through phosphorylation and ubiquitination and that the interaction of Nek1 and TAZ maintain polycystin 2 at the level needed for proper ciliogenesis
    Title: Nek1 and TAZ interact to maintain normal levels of polycystin 2.
  8. NEK1 is required for the maintenance of genome stability by acting at multiple junctures, including control of chromosome stability
    Title: Mutation of NIMA-related kinase 1 (NEK1) leads to chromosome instability.
  9. NEK1 is a candidate to transduce messages from the ciliary-basal body region to the regulation of nuclear gene expression.
    Title: The NIMA-related kinase NEK1 cycles through the nucleus.
  10. These data show that Nek1 is important for efficient DNA damage checkpoint control and for proper DNA damage repair.
    Title: Never-in-mitosis related kinase 1 functions in DNA damage response and checkpoint control.
Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (8) 
  • Spontaneous (2)  1 citation

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC189817

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 14-3-3 protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables histone H2AS1 kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables kinase activity ISO
Inferred from Sequence Orthology
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein kinase activity ISO
Inferred from Sequence Orthology
more info
 PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within DNA damage response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in cell projection organization IEA
Inferred from Electronic Annotation
more info
  
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium assembly ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within kidney development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within multicellular organism growth IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in protein phosphorylation ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of DNA damage checkpoint IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within response to ionizing radiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within spermatogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in centriolar satellite ISO
Inferred from Sequence Orthology
more info
  
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in centrosome ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 PubMed 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 PubMed 
located_in pericentriolar material ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
serine/threonine-protein kinase Nek1
Names
NIMA-related kinase 1
NY-REN-55 antigen
Nek1 serine/threonine- and tyrosine-specific protein kinase
kidney, anemia and testis
never in mitosis A-related kinase 1
nimA-related protein kinase 1
NP_001280566.1
NP_001280567.1
NP_001280568.1
NP_001401155.1
NP_001401156.1
NP_001401157.1
NP_001401158.1
NP_001401159.1
NP_780298.2
XP_030099200.1
XP_036009687.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001293637.1 → NP_001280566.1  serine/threonine-protein kinase Nek1 isoform 1

    See identical proteins and their annotated locations for NP_001280566.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC159302, AK135564, AY850065, BC070443, CX237035
    Consensus CDS
    CCDS85541.1
    UniProtKB/TrEMBL
    B2RXX0, Q69Z74
    Related
    ENSMUSP00000147809.2, ENSMUST00000211672.2
    Conserved Domains (2) summary
    smart00220
    Location:4 → 258
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd08218
    Location:3 → 258
    STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1

  2. NM_001293638.1 → NP_001280567.1  serine/threonine-protein kinase Nek1 isoform 2

    See identical proteins and their annotated locations for NP_001280567.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded protein (isoform 2) is shorter, compared to isoform 1.
    Source sequence(s)
    AC159302, AK135564, AY850065, BC070443, CX237035
    Consensus CDS
    CCDS80879.1
    UniProtKB/TrEMBL
    B7ZWK0, Q69Z74
    Related
    ENSMUSP00000113932.2, ENSMUST00000120689.8
    Conserved Domains (2) summary
    smart00220
    Location:4 → 258
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd08218
    Location:3 → 258
    STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1

  3. NM_001293639.1 → NP_001280568.1  serine/threonine-protein kinase Nek1 isoform 4

    See identical proteins and their annotated locations for NP_001280568.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks three alternate in-frame exons, compared to variant 1. The encoded protein (isoform 4) is shorter, compared to isoform 1.
    Source sequence(s)
    AK135564, AY850065, BC070443, CX237035
    Consensus CDS
    CCDS85542.1
    UniProtKB/TrEMBL
    B2RXQ4, Q69Z74
    Related
    ENSMUSP00000147258.2, ENSMUST00000211256.2
    Conserved Domains (2) summary
    smart00220
    Location:4 → 258
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd08218
    Location:3 → 258
    STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1

  4. NM_001414226.1 → NP_001401155.1  serine/threonine-protein kinase Nek1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC134339, AC159302

  5. NM_001414227.1 → NP_001401156.1  serine/threonine-protein kinase Nek1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC134339, AC159302

  6. NM_001414228.1 → NP_001401157.1  serine/threonine-protein kinase Nek1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC134339, AC159302

  7. NM_001414229.1 → NP_001401158.1  serine/threonine-protein kinase Nek1 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC134339, AC159302

  8. NM_001414230.1 → NP_001401159.1  serine/threonine-protein kinase Nek1 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC134339, AC159302

  9. NM_175089.4 → NP_780298.2  serine/threonine-protein kinase Nek1 isoform 3

    See identical proteins and their annotated locations for NP_780298.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons, compared to variant 1. The encoded protein (isoform 3) is shorter, compared to isoform 1.
    Source sequence(s)
    AK135564, AY850065, BC070443, CX237035
    Consensus CDS
    CCDS40347.1
    UniProtKB/Swiss-Prot
    P51954
    UniProtKB/TrEMBL
    Q69Z74
    Related
    ENSMUSP00000034065.8, ENSMUST00000034065.14
    Conserved Domains (2) summary
    smart00220
    Location:4 → 258
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd08218
    Location:3 → 258
    STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000074.7 Reference GRCm39 C57BL/6J

    Range
    61446184..61584383
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036153794.1 → XP_036009687.1  serine/threonine-protein kinase Nek1 isoform X7

    Conserved Domains (1) summary
    cd08218
    Location:3 → 258
    STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1

  2. XM_030243340.2 → XP_030099200.1  serine/threonine-protein kinase Nek1 isoform X5

    UniProtKB/TrEMBL
    Q69Z74
    Conserved Domains (1) summary
    cl21453
    Location:1 → 179
    PKc_like; Protein Kinases, catalytic domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P51954.2 GenPept UniProtKB/Swiss-Prot:P51954

Gene LinkOut

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