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    Kptn kaptin [ Mus musculus (house mouse) ]

    Gene ID: 70394, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Kptnprovided by MGI
    Official Full Name
    kaptinprovided by MGI
    Primary source
    MGI:MGI:1890380
    See related
    Ensembl:ENSMUSG00000006021 AllianceGenome:MGI:1890380
    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
    2E4; 2310042D10Rik; C030013F01Rik
    Summary
    Predicted to enable actin filament binding activity. Predicted to be involved in several processes, including cellular response to amino acid starvation; cellular response to glucose starvation; and negative regulation of TORC1 signaling. Predicted to be located in postsynaptic actin cytoskeleton and stereocilium. Predicted to be part of KICSTOR complex and filamentous actin. Predicted to be active in lamellipodium. Used to study autosomal recessive intellectual developmental disorder 41. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 41. Orthologous to human KPTN (kaptin, actin binding protein). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary adult (RPKM 13.4), subcutaneous fat pad adult (RPKM 11.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Kptn in Genome Data Viewer
    Location:
    7 A2; 7 8.75 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (15853801..15861441)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (16119876..16127516)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene zinc finger protein 541 Neighboring gene STARR-seq mESC enhancer starr_18124 Neighboring gene STARR-positive B cell enhancer ABC_E541 Neighboring gene N-ethylmaleimide sensitive fusion protein attachment protein alpha Neighboring gene STARR-positive B cell enhancer ABC_E6515 Neighboring gene solute carrier family 8 (sodium/calcium exchanger), member 2 Neighboring gene Meis homeobox 3

    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. Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes. Levitin MO, et al. Brain, 2023 Nov 2. PMID 37437211, Free PMC Article
    2. The gene for soluble N-ethylmaleimide sensitive factor attachment protein alpha is mutated in hydrocephaly with hop gait (hyh) mice. Hong HK, et al. Proc Natl Acad Sci U S A, 2004 Feb 10. PMID 14755058, Free PMC Article
    3. Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes. White JK, et al. Cell, 2013 Jul 18. PMID 23870131, Free PMC Article
    4. Mapping of the mouse hyh gene to a YAC/BAC contig on proximal Chromosome 7. Chae TH, et al. Mamm Genome, 2002 May. PMID 12016511
    5. Mouse screen reveals multiple new genes underlying mouse and human hearing loss. Ingham NJ, et al. PLoS Biol, 2019 Apr. PMID 30973865, Free PMC Article

    See all (20) 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)
    • Endonuclease-mediated (1) 
    • Targeted (3) 

    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 actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables actin filament binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables actin filament binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in actin filament organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to amino acid starvation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to amino acid starvation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular response to amino acid starvation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to glucose starvation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular response to glucose starvation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of TORC1 signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of TORC1 signaling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of TORC1 signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein localization to lysosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to lysosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of KICSTOR complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of KICSTOR complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of KICSTOR complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of filamentous actin ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of filamentous actin ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in lamellipodium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lamellipodium ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in postsynaptic actin cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in stereocilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    KICSTOR complex protein kaptin
    Names
    actin-binding protein

    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_133727.2 → NP_598488.2  KICSTOR complex protein kaptin

      Status: VALIDATED

      Source sequence(s)
      AK009746, BE993711, BU953076, BY269246
      Consensus CDS
      CCDS20844.1
      UniProtKB/Swiss-Prot
      Q8VCX6
      UniProtKB/TrEMBL
      G3X8R1
      Related
      ENSMUSP00000006178.5, ENSMUST00000006178.5
      Conserved Domains (1) summary
      pfam13517
      Location:316 → 379
      VCBS; Repeat domain in Vibrio, Colwellia, Bradyrhizobium and Shewanella

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      15853801..15861441
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VCX6.1 GenPept UniProtKB/Swiss-Prot:Q8VCX6

    Gene LinkOut

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

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