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    NEK3 NIMA related kinase 3 [ Homo sapiens (human) ]

    Gene ID: 4752, updated on 4-Dec-2022

    Summary

    Official Symbol
    NEK3provided by HGNC
    Official Full Name
    NIMA related kinase 3provided by HGNC
    Primary source
    HGNC:HGNC:7746
    See related
    Ensembl:ENSG00000136098 MIM:604044; AllianceGenome:HGNC:7746
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HSPK36
    Summary
    This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm. The kinase is activated by prolactin stimulation, leading to phosphorylation of VAV2 guanine nucleotide exchange factor, paxillin, and activation of the RAC1 GTPase. Two functional alleles for this gene have been identified in humans. The reference genome assembly (GRCh38) represents a functional allele that is associated with the inclusion of an additional coding exon in protein-coding transcripts, compared to an alternate functional allele that lacks the exon. [provided by RefSeq, Sep 2019]
    Annotation information
    Note: Available sequence data supports two haplotypes in the human population that differ by a 1 nt indel (rs3837575) at the end of exon 10. Both haplotypes appear to encode functional proteins via alternative splicing of exon 11. The GRCh38 reference assembly includes the extra nt and expresses a full-length protein that includes exon 11, whereas haplotypes that lack the extra nt express a full-length protein lacking exon 11. [30 Sep 2019]
    Expression
    Broad expression in testis (RPKM 10.8), placenta (RPKM 6.5) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See NEK3 in Genome Data Viewer
    Location:
    13q14.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (52132647..52159597, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (51347476..51374692, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (52706783..52733732, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene NIMA related kinase 5 Neighboring gene Sharpr-MPRA regulatory region 10224 Neighboring gene Sharpr-MPRA regulatory region 2352 Neighboring gene uncharacterized LOC101929657 Neighboring gene uncharacterized LOC124903176 Neighboring gene mitochondrial ribosomal protein S31 pseudogene 5 Neighboring gene thrombospondin type 1 domain containing 1 pseudogene 1 Neighboring gene TPTE2 pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC29949

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein serine/threonine kinase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of cell polarity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitotic cell cycle NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in neuron projection morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of tubulin deacetylation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    serine/threonine-protein kinase Nek3
    Names
    HSPK 36
    NIMA (never in mitosis gene a)-related kinase 3
    glycogen synthase A kinase
    hydroxyalkyl-protein kinase
    never in mitosis A-related kinase 3
    nimA-related protein kinase 3
    phosphorylase B kinase kinase
    NP_001139571.1
    NP_002489.1
    NP_689933.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001146099.1NP_001139571.1  serine/threonine-protein kinase Nek3 isoform b

      See identical proteins and their annotated locations for NP_001139571.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the central coding region, compared to variant 1. The resulting isoform (b) lacks an internal segment, compared to isoform a. This variant represents an alternate haplotype that lacks an 'A' at position 1253. This haplotype is not encoded by the reference assembly.
      Source sequence(s)
      AB072828, AI026881, DA733733, DB185803
      UniProtKB/Swiss-Prot
      P51956
      Conserved Domains (1) summary
      cd08219
      Location:3257
      STKc_Nek3; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 3
    2. NM_002498.3NP_002489.1  serine/threonine-protein kinase Nek3 isoform a

      See identical proteins and their annotated locations for NP_002489.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AL139082, BC019916
      Consensus CDS
      CCDS73576.1
      UniProtKB/Swiss-Prot
      P51956, Q8WUN5
      Related
      ENSP00000480328.1, ENST00000610828.5
      Conserved Domains (1) summary
      cd08219
      Location:3257
      STKc_Nek3; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 3
    3. NM_152720.3NP_689933.1  serine/threonine-protein kinase Nek3 isoform a

      See identical proteins and their annotated locations for NP_689933.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AI209040, AK131359, AK290259, AL139082, H15146
      Consensus CDS
      CCDS73576.1
      UniProtKB/Swiss-Prot
      P51956, Q8WUN5
      UniProtKB/TrEMBL
      Q6ZN64
      Related
      ENSP00000484443.1, ENST00000618534.4
      Conserved Domains (1) summary
      cd08219
      Location:3257
      STKc_Nek3; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 3

    RNA

    1. NR_027415.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the splice pattern of variant 1 but without the extra 'A' found in the GRCh38 haplotype. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL139082, AW364762, BM675414, BX395059, CV029372, DA407862, DB185803
    2. NR_164641.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents the splice pattern of variant 3 but with the extra 'A' found in the GRCh38 haplotype. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL139082, KF459684
    3. NR_172104.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) represents the splice pattern of variant 2 but without the extra 'A' found in the GRCh38 haplotype. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL139082, KF459684

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      52132647..52159597 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      51347476..51374692 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)