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    Knl1 kinetochore scaffold 1 [ Mus musculus (house mouse) ]

    Gene ID: 76464, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Knl1provided by MGI
    Official Full Name
    kinetochore scaffold 1provided by MGI
    Primary source
    MGI:MGI:1923714
    See related
    Ensembl:ENSMUSG00000027326 AllianceGenome:MGI:1923714
    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
    Casc5; 2310043D08Rik; 5730505K17Rik
    Summary
    Predicted to enable microtubule binding activity. Involved in homologous chromosome orientation in meiotic metaphase I and positive regulation of meiosis I spindle assembly checkpoint. Located in cytoplasm and kinetochore. Is expressed in telencephalon and telencephalon ventricular layer. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly; primary autosomal recessive microcephaly 4; and sarcoma. Orthologous to human KNL1 (kinetochore scaffold 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in liver E14 (RPKM 4.5), CNS E11.5 (RPKM 3.4) and 10 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Knl1 in Genome Data Viewer
    Location:
    2 E5; 2 59.85 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (118877600..118940978)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (119047119..119110497)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1595 Neighboring gene RNA pseudouridylate synthase domain containing 2 Neighboring gene STARR-positive B cell enhancer ABC_E1596 Neighboring gene nuclear encoded tRNA serine 7 (anticodon GCT) Neighboring gene RAD51 recombinase Neighboring gene regulator of microtubule dynamics 3 Neighboring gene STARR-positive B cell enhancer ABC_E7851

    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. The Loss-Function of KNL1 Causes Oligospermia and Asthenospermia in Mice by Affecting the Assembly and Separation of the Spindle through Flow Cytometry and Immunofluorescence. Zhao Y, et al. Sensors (Basel), 2023 Feb 25. PMID 36904774, Free PMC Article
    2. Kinetochore scaffold 1 regulates SAC function during mouse oocyte meiotic maturation. Yue W, et al. FASEB J, 2022 Mar. PMID 35167144
    3. Longer metaphase and fewer chromosome segregation errors in modern human than Neanderthal brain development. Mora-Bermúdez F, et al. Sci Adv, 2022 Jul 29. PMID 35905187, Free PMC Article
    4. Structural analysis reveals features of the spindle checkpoint kinase Bub1-kinetochore subunit Knl1 interaction. Krenn V, et al. J Cell Biol, 2012 Feb 20. PMID 22331848, Free PMC Article
    5. A blueprint for kinetochores - new insights into the molecular mechanics of cell division. Lampert F, et al. Nat Rev Mol Cell Biol, 2011 Jun 2. PMID 21633384

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Loss-Function of KNL1 Causes Oligospermia and Asthenospermia in Mice by Affecting the Assembly and Separation of the Spindle through Flow Cytometry and Immunofluorescence.
      Title: The Loss-Function of KNL1 Causes Oligospermia and Asthenospermia in Mice by Affecting the Assembly and Separation of the Spindle through Flow Cytometry and Immunofluorescence.
    2. Kinetochore scaffold 1 regulates SAC function during mouse oocyte meiotic maturation.
      Title: Kinetochore scaffold 1 regulates SAC function during mouse oocyte meiotic maturation.
    3. Study in mouse model finds that following Knl1 deletion, segregation errors in mitotic neural progenitor cells give rise to DNA damage on the missegregated chromosomes. This triggers rapid p53 activation and robust apoptotic and microglial phagocytic responses that extensively eliminate cells with somatic genome damage, thus causing microcephaly.
      Title: Robust elimination of genome-damaged cells safeguards against brain somatic aneuploidy following Knl1 deletion.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (5)  1 citation
    • Targeted (3)  1 citation
    • Transgenic (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC91208

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables microtubule binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in attachment of spindle microtubules to kinetochore IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in attachment of spindle microtubules to kinetochore ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in homologous chromosome orientation in meiotic metaphase I IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic sister chromatid segregation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitotic sister chromatid segregation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of meiosis I spindle assembly checkpoint IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein localization to kinetochore ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of mitotic cell cycle spindle assembly checkpoint ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of mitotic cell cycle spindle assembly checkpoint ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of Knl1/Spc105 complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of Knl1/Spc105 complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in acrosomal vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in kinetochore ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in kinetochore ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in kinetochore NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    kinetochore scaffold 1
    Names
    cancer susceptibility candidate 5
    kinetochore-null protein 1
    protein CASC5

    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_001362732.1 → NP_001349661.1  kinetochore scaffold 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK009772, AL772264, BC080815
      Consensus CDS
      CCDS89540.1
      UniProtKB/Swiss-Prot
      A3KGI4, Q66JQ7, Q8CCH6, Q9CV38
      Related
      ENSMUSP00000028799.6, ENSMUST00000028799.12

    2. NM_029617.3 → NP_083893.2  kinetochore scaffold 1 isoform 1

      See identical proteins and their annotated locations for NP_083893.2

      Status: VALIDATED

      Source sequence(s)
      AL772264
      Consensus CDS
      CCDS38203.1
      UniProtKB/TrEMBL
      A3KGI3
      Related
      ENSMUSP00000097140.3, ENSMUST00000099542.9
      Conserved Domains (2) summary
      COG1196
      Location:1724 → 1912
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam18210
      Location:2021 → 2118
      Knl1_RWD_C; Knl1 RWD C-terminal domain

    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
      118877600..118940978
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006500376.4 → XP_006500439.1  kinetochore scaffold 1 isoform X1

      See identical proteins and their annotated locations for XP_006500439.1

      UniProtKB/TrEMBL
      A3KGI3
      Conserved Domains (2) summary
      COG1196
      Location:1724 → 1912
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam18210
      Location:2021 → 2118
      Knl1_RWD_C; Knl1 RWD C-terminal domain

    2. XM_006500377.5 → XP_006500440.1  kinetochore scaffold 1 isoform X1

      See identical proteins and their annotated locations for XP_006500440.1

      UniProtKB/TrEMBL
      A3KGI3
      Related
      ENSMUSP00000028802.3, ENSMUST00000028802.3
      Conserved Domains (2) summary
      COG1196
      Location:1724 → 1912
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam18210
      Location:2021 → 2118
      Knl1_RWD_C; Knl1 RWD C-terminal domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q66JQ7.3 GenPept UniProtKB/Swiss-Prot:Q66JQ7

    Gene LinkOut

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

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