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    Cfap418 cilia and flagella associated protein 418 [ Mus musculus (house mouse) ]

    Gene ID: 67157, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Cfap418provided by MGI
    Official Full Name
    cilia and flagella associated protein 418provided by MGI
    Primary source
    MGI:MGI:1914407
    See related
    Ensembl:ENSMUSG00000059482 AllianceGenome:MGI:1914407
    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
    2610301B20Rik
    Summary
    Involved in photoreceptor cell morphogenesis. Located in cytoplasm and photoreceptor inner segment. Used to study cone-rod dystrophy 16 and retinitis pigmentosa. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 21 and cone-rod dystrophy 16. Orthologous to human CFAP418 (cilia and flagella associated protein 418). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis adult (RPKM 15.2), frontal lobe adult (RPKM 10.8) and 23 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cfap418 in Genome Data Viewer
    Location:
    4 A1; 4 4.85 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (10874249..10899425)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (10874044..10899425)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene karyopherin (importin) alpha 2 pseudogene Neighboring gene nuclear encoded tRNA serine 9 (anticodon AGA) Neighboring gene STARR-seq mESC enhancer starr_09561 Neighboring gene STARR-seq mESC enhancer starr_09566 Neighboring gene STARR-seq mESC enhancer starr_09569 Neighboring gene predicted gene, 54234 Neighboring gene ribosomal protein S11, pseudogene 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. C8ORF37 Is Required for Photoreceptor Outer Segment Disc Morphogenesis by Maintaining Outer Segment Membrane Protein Homeostasis. Sharif AS, et al. J Neurosci, 2018 Mar 28. PMID 29440555, Free PMC Article
    2. The Wheels mutation in the mouse causes vascular, hindbrain, and inner ear defects. Alavizadeh A, et al. Dev Biol, 2001 Jun 1. PMID 11356033
    3. Functional consequences of necdin nucleocytoplasmic localization. Lavi-Itzkovitz A, et al. PLoS One, 2012. PMID 22442722, Free PMC Article
    4. Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Collin GB, et al. Cells, 2020 Apr 10. PMID 32290105, Free PMC Article
    5. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

    See all (15) 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)

    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 molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in photoreceptor cell morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary base ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 418
    Names
    protein C8orf37 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_026005.3 → NP_080281.3  cilia- and flagella-associated protein 418

      See identical proteins and their annotated locations for NP_080281.3

      Status: VALIDATED

      Source sequence(s)
      AI840411, AK003887, BM948390, CX220600
      Consensus CDS
      CCDS17961.1
      UniProtKB/Swiss-Prot
      Q3UJP5, Q6PDD5
      UniProtKB/TrEMBL
      B1AV75
      Related
      ENSMUSP00000079361.8, ENSMUST00000080517.14
      Conserved Domains (1) summary
      pfam14996
      Location:64 → 209
      RMP; Retinal Maintenance

    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_000070.7 Reference GRCm39 C57BL/6J

      Range
      10874249..10899425
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006538200.5 → XP_006538263.1  cilia- and flagella-associated protein 418 isoform X1

      Conserved Domains (1) summary
      pfam14996
      Location:53 → 135
      RMP; Retinal Maintenance
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3UJP5.1 GenPept UniProtKB/Swiss-Prot:Q3UJP5

    Gene LinkOut

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

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