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

Gene ID: 76464, updated on 5-Mar-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 be involved in attachment of spindle microtubules to kinetochore and protein localization to kinetochore. Predicted to act upstream of or within cell division and chromosome segregation. Predicted to be located in acrosomal vesicle; kinetochore; and nuclear body. Predicted to be active in nucleus. Is expressed in telencephalon ventricular layer. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly and primary autosomal recessive microcephaly 4. Orthologous to human KNL1 (kinetochore scaffold 1). [provided by Alliance of Genome Resources, Apr 2022]
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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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 (24) 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)
  • Transgenic (1) 
  • Targeted (3)  1 citation
  • Chemically induced (ENU) (1) 
  • Endonuclease-mediated (5)  1 citation

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 molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in attachment of spindle microtubules to kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in attachment of spindle microtubules to kinetochore ISO
Inferred from Sequence Orthology
more info
  
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 division IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within chromosome segregation 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 positive regulation of meiosis I spindle assembly checkpoint IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein localization to kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
Component Evidence Code Pubs
part_of Knl1/Spc105 complex ISO
Inferred from Sequence Orthology
more info
  
located_in acrosomal vesicle 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 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 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
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
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

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