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

Gene ID: 4752, updated on 5-Sep-2021

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
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
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Genomic context

See NEK3 in Genome Data Viewer
Location:
13q14.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (52132647..52159597, complement)
105.20201022 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 ALG11 alpha-1,2-mannosyltransferase Neighboring gene UTP14C small subunit processome component Neighboring gene NIMA related kinase 5 Neighboring gene Sharpr-MPRA regulatory region 2352 Neighboring gene uncharacterized LOC101929657 Neighboring gene mitochondrial ribosomal protein S31 pseudogene 5 Neighboring gene thrombospondin type 1 domain containing 1 pseudogene 1 Neighboring gene transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 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_002489.1
NP_689933.1

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_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
    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
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

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