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    Knstrn kinetochore-localized astrin/SPAG5 binding [ Mus musculus (house mouse) ]

    Gene ID: 51944, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Knstrnprovided by MGI
    Official Full Name
    kinetochore-localized astrin/SPAG5 bindingprovided by MGI
    Primary source
    MGI:MGI:1289298
    See related
    Ensembl:ENSMUSG00000027331 AllianceGenome:MGI:1289298
    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
    SKAP; C15orf23; Traf4af1; D2Ertd750e; 1700025D04Rik
    Summary
    Predicted to enable microtubule plus-end binding activity and protein homodimerization activity. Predicted to be involved in several processes, including cellular response to epidermal growth factor stimulus; mitotic sister chromatid segregation; and regulation of attachment of spindle microtubules to kinetochore. Predicted to act upstream of or within cell division. Predicted to be located in plasma membrane and ruffle. Predicted to be active in kinetochore and microtubule cytoskeleton. Human ortholog(s) of this gene implicated in actinic keratosis and skin squamous cell carcinoma. Orthologous to human KNSTRN (kinetochore localized astrin (SPAG5) binding protein). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis adult (RPKM 18.2), CNS E11.5 (RPKM 17.7) and 15 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    2 E5; 2 59.46 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (118644470..118667691)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (118813988..118837210)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene dispatched RND transporter family member 2 Neighboring gene predicted gene, 38629 Neighboring gene predicted gene, 39913 Neighboring gene STARR-positive B cell enhancer ABC_E2638 Neighboring gene isovaleryl coenzyme A dehydrogenase Neighboring gene STARR-positive B cell enhancer ABC_E4491 Neighboring gene STARR-positive B cell enhancer ABC_E9528 Neighboring gene predicted gene, 32798

    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. Characterization of SKAP/kinastrin isoforms: the N-terminus defines tissue specificity and Pontin binding. Cindric Vranesic A, et al. Hum Mol Genet, 2016 Jul 1. PMID 27170314
    2. SKAP, an outer kinetochore protein, is required for mouse germ cell development. Grey C, et al. Reproduction, 2016 Mar. PMID 26667018, Free PMC Article
    3. DIAPH3 deficiency links microtubules to mitotic errors, defective neurogenesis, and brain dysfunction. Lau EO, et al. Elife, 2021 Apr 26. PMID 33899739, Free PMC Article
    4. The interactome of CLUH reveals its association to SPAG5 and its co-translational proximity to mitochondrial proteins. Hémono M, et al. BMC Biol, 2022 Jan 10. PMID 35012549, Free PMC Article
    5. Protein-protein interaction panel using mouse full-length cDNAs. Suzuki H, et al. Genome Res, 2001 Oct. PMID 11591653, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. important role in the successful outcome of male gametogenesis
      Title: SKAP, an outer kinetochore protein, is required for mouse germ cell development.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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 microtubule plus-end binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell migration ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular response to epidermal growth factor stimulus ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in chromosome segregation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in microtubule cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitotic sister chromatid segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic sister chromatid segregation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of attachment of spindle microtubules to kinetochore IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of attachment of spindle microtubules to kinetochore ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in spindle organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spindle organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in centriolar satellite IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriolar satellite ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in chromosome, centromeric region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in kinetochore IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in kinetochore ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule organizing center ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in microtubule plus-end IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in microtubule plus-end ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in mitotic spindle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitotic spindle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ruffle ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    small kinetochore-associated protein
    Names
    TRAF4 associated factor 1 homolog
    TRAF4-associated factor 1
    kinastrin
    kinetochore-localized astrin-binding protein
    kinetochore-localized astrin/SPAG5-binding protein
    putative TRAF4-associated factor 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_026412.3 → NP_080688.2  small kinetochore-associated protein

      See identical proteins and their annotated locations for NP_080688.2

      Status: VALIDATED

      Source sequence(s)
      AK006328, AK028590, AK036374
      Consensus CDS
      CCDS16585.1
      UniProtKB/Swiss-Prot
      Q8K2D9, Q9D9Z1
      Related
      ENSMUSP00000115860.2, ENSMUST00000134661.8
      Conserved Domains (1) summary
      PRK12704
      Location:144 → 308
      PRK12704; phosphodiesterase; Provisional

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      118644470..118667691
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017319123.2 → XP_017174612.1  small kinetochore-associated protein isoform X1

      Conserved Domains (1) summary
      pfam12128
      Location:127 → 272
      DUF3584; Protein of unknown function (DUF3584)

    RNA

    1. XR_374488.4 RNA Sequence

    2. XR_374487.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D9Z1.2 GenPept UniProtKB/Swiss-Prot:Q9D9Z1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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