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    Cfap300 cilia and flagella associated protein 300 [ Mus musculus (house mouse) ]

    Gene ID: 234912, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Cfap300provided by MGI
    Official Full Name
    cilia and flagella associated protein 300provided by MGI
    Primary source
    MGI:MGI:3045346
    See related
    Ensembl:ENSMUSG00000053070 AllianceGenome:MGI:3045346
    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
    9230110C19Rik
    Summary
    Predicted to be located in cytoplasm and motile cilium. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 38. Orthologous to human CFAP300 (cilia and flagella associated protein 300). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis adult (RPKM 16.9), whole brain E14.5 (RPKM 4.3) and 16 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cfap300 in Genome Data Viewer
    Location:
    9 A1; 9 2.46 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (8021673..8042876, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (8021672..8042875, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer mm9_chr9:7872853-7873154 Neighboring gene STARR-positive B cell enhancer mm9_chr9:7873159-7873459 Neighboring gene baculoviral IAP repeat-containing 3 Neighboring gene STARR-seq mESC enhancer starr_23228 Neighboring gene STARR-seq mESC enhancer starr_23230 Neighboring gene STARR-seq mESC enhancer starr_23231 Neighboring gene STARR-seq mESC enhancer starr_23234 Neighboring gene yes-associated protein 1 Neighboring gene STARR-seq mESC enhancer starr_23236 Neighboring gene STARR-seq mESC enhancer starr_23238 Neighboring gene STARR-seq mESC enhancer starr_23239 Neighboring gene centrosomal protein 126 Neighboring gene angiopoietin-related protein 5 pseudogene Neighboring gene predicted gene 7495

    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. Three-dimensional microCT imaging of mouse heart development from early post-implantation to late fetal stages. Li-Villarreal N, et al. Mamm Genome, 2023 Jun. PMID 36595063, Free PMC Article
    2. Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia. Carninci P, et al. Genome Res, 2003 Jun. PMID 12819125, Free PMC Article
    3. BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. Magdaleno S, et al. PLoS Biol, 2006 Apr. PMID 16602821, Free PMC Article
    4. Genetic determinants of micronucleus formation in vivo. Adams DJ, et al. Nature, 2024 Mar. PMID 38355793, Free PMC Article
    5. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Zambrowicz BP, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14610273, Free PMC Article

    See all (14) 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 (2) 

    General gene information

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    Markers

    Homology

    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 biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in motile cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 300
    Names
    uncharacterized protein C11orf70 homolog

    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_001358295.1 → NP_001345224.1  cilia- and flagella-associated protein 300 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC139885
      Conserved Domains (1) summary
      pfam14926
      Location:14 → 218
      DUF4498; Domain of unknown function (DUF4498)

    2. NM_199017.3 → NP_950182.1  cilia- and flagella-associated protein 300 isoform 1

      See identical proteins and their annotated locations for NP_950182.1

      Status: VALIDATED

      Source sequence(s)
      AK033793, BB855089, BY786171
      Consensus CDS
      CCDS22813.1
      UniProtKB/Swiss-Prot
      Q8CC70
      Related
      ENSMUSP00000063450.2, ENSMUST00000065291.2
      Conserved Domains (1) summary
      pfam14926
      Location:14 → 259
      DUF4498; Domain of unknown function (DUF4498)

    RNA

    1. NR_152396.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) is represented as non-coding because it lacks a large portion of the CDS found in variant 1.
      Source sequence(s)
      AK033793, BB855089, BC115525, BY786171

    2. NR_152397.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) is represented as non-coding because it lacks a large portion of the CDS found in variant 1.
      Source sequence(s)
      AK033793, BB855089, BC127165, BY786171

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      8021673..8042876 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006509861.2 → XP_006509924.1  cilia- and flagella-associated protein 300 isoform X1

      Conserved Domains (1) summary
      pfam14926
      Location:1 → 221
      DUF4498; Domain of unknown function (DUF4498)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CC70.1 GenPept UniProtKB/Swiss-Prot:Q8CC70

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