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    Nek8 NIMA (never in mitosis gene a)-related expressed kinase 8 [ Mus musculus (house mouse) ]

    Gene ID: 140859, updated on 12-May-2024

    Summary

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    Official Symbol
    Nek8provided by MGI
    Official Full Name
    NIMA (never in mitosis gene a)-related expressed kinase 8provided by MGI
    Primary source
    MGI:MGI:1890646
    See related
    Ensembl:ENSMUSG00000017405 AllianceGenome:MGI:1890646
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    jck; b2b1449Clo; 4632401F23Rik
    Summary
    This gene encodes a NIMA-related kinase. Members of this serine/threonine protein kinase family are structurally-related to NIMA (never in mitosis, gene A) which controls mitotic signaling in Aspergillus nidulans. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in ovary adult (RPKM 10.2), adrenal adult (RPKM 9.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Nek8 in Genome Data Viewer
    Location:
    11 B5; 11 46.74 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (78056932..78067501, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (78166106..78176695, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 222, member B Neighboring gene U6 small nuclear RNA associated LSM6 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E10694 Neighboring gene STARR-seq mESC enhancer starr_30088 Neighboring gene TNF receptor associated factor 4 Neighboring gene STARR-positive B cell enhancer ABC_E8429 Neighboring gene STARR-positive B cell enhancer ABC_E9831 Neighboring gene STARR-positive B cell enhancer ABC_E7023 Neighboring gene microRNA 7653 Neighboring gene small nucleolar RNA, C/D box 42A Neighboring gene TLC domain containing 1 Neighboring gene ribosomal protein L23A

    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
    • 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. Defective interplay between mTORC1 activity and endoplasmic reticulum stress-unfolded protein response in uremic vascular calcification. Panda DK, et al. Am J Physiol Renal Physiol, 2018 Jun 1. PMID 29357413
    2. CaMKII as a pathological mediator of ER stress, oxidative stress, and mitochondrial dysfunction in a murine model of nephronophthisis. Bracken C, et al. Am J Physiol Renal Physiol, 2016 Jun 1. PMID 27076647
    3. Development of polycystic kidney disease in juvenile cystic kidney mice: insights into pathogenesis, ciliary abnormalities, and common features with human disease. Smith LA, et al. J Am Soc Nephrol, 2006 Oct. PMID 16928806
    4. Ultrasound detection and characterization of polycystic kidney disease in a mouse model. Pollard R, et al. Comp Med, 2006 Jun. PMID 16774131
    5. Genetic localization of interacting modifiers affecting severity in a murine model of polycystic kidney disease. Kuida S, et al. Genome Res, 2000 Jan. PMID 10645949, Free PMC Article

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
      Title: Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
    2. We constructed sub-congenic lines to more specifically localize the modifier and have determined it resides in a 3.2 Mb interval containing 28 genes. These include Invs and Anks6, which are both excellent candidates for the modifier as mutations in these genes result in PKD and both genes are known to genetically and physically interact with Nek8.
      Title: High-resolution genetic localization of a modifying locus affecting disease severity in the juvenile cystic kidneys (jck) mouse model of polycystic kidney disease.
    3. NEK8 plays a critical role in replication fork stability through its regulation of the DNA repair and replication fork protection protein RAD51.
      Title: NEK8 regulates DNA damage-induced RAD51 foci formation and replication fork protection.
    4. NEK8-depleted inner medullary collecting duct cells exhibited a defective response to fluid shear.
      Title: Loss of the ciliary kinase Nek8 causes left-right asymmetry defects.
    5. Nek8 acts downstream of Inv function
      Title: The ciliary protein Nek8/Nphp9 acts downstream of Inv/Nphp2 during pronephros morphogenesis and left-right establishment in zebrafish.
    6. Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia.
      Title: Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia.
    7. Defects in ciliary localization of Nek8 is associated with polycystic kidney diseases
      Title: Defects in ciliary localization of Nek8 is associated with cystogenesis.
    8. interacts with the signal transduction pathways of the polycystins and may lead to cystogenesis by altering the structure and function of cilia in the distal nephron
      Title: Nek8 regulates the expression and localization of polycystin-1 and polycystin-2.
    9. Nek8 and Pkd1 genes function in a common pathway to regulate cystogenesis. Moreover, compound Pkd1 and Nek8 heterozygous adult mice develop a more aggressive cystic disease than animals with a mutation in either gene alone.
      Title: Pkd1 and Nek8 mutations affect cell-cell adhesion and cilia in cysts formed in kidney organ cultures.
    10. cross-species analysis between zebrafish and mouse demonstrates taht NEK8 has a role in development of pronephric cysts
      Title: A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in animal organ morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in animal organ morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of hippo signaling ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in ciliary base IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary inversin compartment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    serine/threonine-protein kinase Nek8
    Names
    NIMA-related expressed kinase 8
    juvenile cystic kidney
    never in mitosis A-related kinase 8
    nimA-related protein kinase 8
    NP_543125.1
    XP_006532246.1
    XP_006532247.1
    XP_006532248.1

    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_080849.3 → NP_543125.1  serine/threonine-protein kinase Nek8

      See identical proteins and their annotated locations for NP_543125.1

      Status: REVIEWED

      Source sequence(s)
      AF407579, BB646522, BC070457
      Consensus CDS
      CCDS25091.1
      UniProtKB/Swiss-Prot
      Q3U498, Q91ZR4, Q9D685
      Related
      ENSMUSP00000017549.7, ENSMUST00000017549.13
      Conserved Domains (4) summary
      smart00220
      Location:4 → 256
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      COG5184
      Location:318 → 663
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      cd08220
      Location:3 → 258
      STKc_Nek8; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 8
      pfam00415
      Location:585 → 634
      RCC1; Regulator of chromosome condensation (RCC1) repeat

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      78056932..78067501 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006532184.5 → XP_006532247.1  serine/threonine-protein kinase Nek8 isoform X2

      Conserved Domains (2) summary
      COG5184
      Location:318 → 663
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      cd08220
      Location:3 → 258
      STKc_Nek8; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 8

    2. XM_006532185.5 → XP_006532248.1  serine/threonine-protein kinase Nek8 isoform X3

      Conserved Domains (2) summary
      COG5184
      Location:274 → 619
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      cl21453
      Location:3 → 214
      PKc_like; Protein Kinases, catalytic domain

    3. XM_006532183.5 → XP_006532246.1  serine/threonine-protein kinase Nek8 isoform X1

      Conserved Domains (2) summary
      COG5184
      Location:318 → 663
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      cd08220
      Location:3 → 258
      STKc_Nek8; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 8
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91ZR4.1 GenPept UniProtKB/Swiss-Prot:Q91ZR4

    Gene LinkOut

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