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    Kntc1 kinetochore associated 1 [ Mus musculus (house mouse) ]

    Gene ID: 208628, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Kntc1provided by MGI
    Official Full Name
    kinetochore associated 1provided by MGI
    Primary source
    MGI:MGI:2673709
    See related
    Ensembl:ENSMUSG00000029414 AllianceGenome:MGI:2673709
    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
    jgl; D330012D13
    Summary
    Predicted to enable small GTPase binding activity. Predicted to be involved in mitotic sister chromatid segregation; mitotic spindle assembly checkpoint signaling; and protein localization to kinetochore involved in kinetochore assembly. Predicted to act upstream of or within cell division. Predicted to be located in cytoskeleton; cytosol; and plasma membrane. Predicted to be part of RZZ complex. Predicted to be active in cytoplasm and kinetochore microtubule. Is expressed in several structures, including alimentary system; brain; genitourinary system; lung; and spleen. Orthologous to human KNTC1 (kinetochore associated 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in CNS E11.5 (RPKM 6.8), liver E14 (RPKM 6.3) and 14 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    5 F; 5 63.17 cM
    Exon count:
    67
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (123887755..123959656)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (123749692..123821593)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene polymerase (RNA) II (DNA directed) polypeptide K pseudogene Neighboring gene arginine/serine-rich coiled-coil 2 Neighboring gene STARR-positive B cell enhancer ABC_E104 Neighboring gene hydroxycarboxylic acid receptor 2 Neighboring gene hydrocarboxylic acid receptor 1

    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 trafficking protein Tmed2/p24beta(1) is required for morphogenesis of the mouse embryo and placenta. Jerome-Majewska LA, et al. Dev Biol, 2010 May 1. PMID 20178780, Free PMC Article
    2. Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Fairfield H, et al. Genome Res, 2015 Jul. PMID 25917818, Free PMC Article
    3. Prediction of the coding sequences of mouse homologues of KIAA gene: IV. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2004 Jun 30. PMID 15368895
    4. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Sang L, et al. Cell, 2011 May 13. PMID 21565611, Free PMC Article
    5. BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING). Motani K, et al. J Biol Chem, 2020 Aug 7. PMID 32554809, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Spontaneous (1) 
    • Targeted (2) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    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 mitotic sister chromatid segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic spindle assembly checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic spindle assembly checkpoint signaling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to kinetochore involved in kinetochore assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of RZZ complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of RZZ complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in actin cytoskeleton 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
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in kinetochore IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in kinetochore microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in kinetochore microtubule 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 spindle pole ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    kinetochore-associated protein 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_001042421.1 → NP_001035886.1  kinetochore-associated protein 1

      See identical proteins and their annotated locations for NP_001035886.1

      Status: VALIDATED

      Source sequence(s)
      AC129582, AK172905, BY010626
      Consensus CDS
      CCDS39274.1
      UniProtKB/Swiss-Prot
      Q6A0B3, Q8C3Y4
      Related
      ENSMUSP00000031366.8, ENSMUST00000031366.12
      Conserved Domains (1) summary
      pfam10493
      Location:1582 → 2126
      Rod_C; Rough deal protein C-terminal region

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      123887755..123959656
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006530253.5 → XP_006530316.1  kinetochore-associated protein 1 isoform X5

    2. XM_006530252.5 → XP_006530315.1  kinetochore-associated protein 1 isoform X4

    3. XM_006530250.4 → XP_006530313.1  kinetochore-associated protein 1 isoform X2

      Conserved Domains (1) summary
      pfam10493
      Location:1579 → 1962
      Rod_C; Rough deal protein C-terminal region

    4. XM_030254330.1 → XP_030110190.1  kinetochore-associated protein 1 isoform X1

      Conserved Domains (1) summary
      pfam10493
      Location:1427 → 1976
      Rod_C; Rough deal protein C-terminal region

    5. XM_006530251.4 → XP_006530314.1  kinetochore-associated protein 1 isoform X3

      Conserved Domains (1) summary
      pfam10493
      Location:776 → 1325
      Rod_C; Rough deal protein C-terminal region

    6. XM_006530254.2 → XP_006530317.1  kinetochore-associated protein 1 isoform X6

      Conserved Domains (1) summary
      pfam10493
      Location:673 → 1222
      Rod_C; Rough deal protein C-terminal region
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C3Y4.2 GenPept UniProtKB/Swiss-Prot:Q8C3Y4

    Gene LinkOut

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

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