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    Cfap119 cilia and flagella associated protein 119 [ Mus musculus (house mouse) ]

    Gene ID: 233899, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Cfap119provided by MGI
    Official Full Name
    cilia and flagella associated protein 119provided by MGI
    Primary source
    MGI:MGI:2685012
    See related
    Ensembl:ENSMUSG00000057176 AllianceGenome:MGI:2685012
    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
    Gm166; Ccdc189
    Summary
    Acts upstream of or within gene expression; single fertilization; and sperm flagellum assembly. Part of radial spoke. Is active in axoneme. Is expressed in Meckel's cartilage and skeleton. Orthologous to human CFAP119 (cilia and flagella associated protein 119). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in testis adult (RPKM 271.5) and thymus adult (RPKM 11.1) See more
    Orthologs
    human all
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    Genomic context

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    See Cfap119 in Genome Data Viewer
    Location:
    7 F3; 7 69.61 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (127182527..127187819, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (127582383..127588666, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene transmembrane protein 265 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:134716729-134716937 Neighboring gene phosphorylase kinase, gamma 2 (testis) Neighboring gene STARR-positive B cell enhancer ABC_E6607 Neighboring gene ring finger protein 40 Neighboring gene RIKEN cDNA 1700120K04 gene

    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 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. CCDC189 depletion leads to oligo-astheno-teratozoospermia and male infertility in mice†. Zhou H, et al. Biol Reprod, 2024 Oct 14. PMID 39018224
    2. CCDC189 affects sperm flagellum formation by interacting with CABCOCO1. Wang M, et al. Natl Sci Rev, 2023 Sep. PMID 37601242, Free PMC Article
    3. Identification of transcripts with enriched expression in the developing and adult pancreas. Hoffman BG, et al. Genome Biol, 2008. PMID 18554416, 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

    What's a GeneRIF?
    1. CCDC189 depletion leads to oligo-astheno-teratozoospermia and male infertility in micedagger.
      Title: CCDC189 depletion leads to oligo-astheno-teratozoospermia and male infertility in mice†.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3)  1 citation
    • Targeted (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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within single fertilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within sperm flagellum assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in acrosomal vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in acrosomal vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of radial spoke IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sperm principal piece ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in sperm principal piece ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 119
    Names
    coiled-coil domain containing 189
    coiled-coil domain-containing protein 189

    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_001033040.4 → NP_001028212.1  cilia- and flagella-associated protein 119 isoform 1

      See identical proteins and their annotated locations for NP_001028212.1

      Status: VALIDATED

      Source sequence(s)
      AC122417
      Consensus CDS
      CCDS21870.1
      UniProtKB/Swiss-Prot
      Q3UST8, Q6NZQ0
      Related
      ENSMUSP00000072019.4, ENSMUST00000072155.5
      Conserved Domains (1) summary
      pfam14769
      Location:130 → 224
      CLAMP; Flagellar C1a complex subunit C1a-32

    2. NM_001382406.1 → NP_001369335.1  cilia- and flagella-associated protein 119 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC122417
      Conserved Domains (1) summary
      pfam14769
      Location:130 → 184
      CLAMP; Flagellar C1a complex subunit C1a-32

    3. NM_001382407.1 → NP_001369336.1  cilia- and flagella-associated protein 119 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC122417
      Conserved Domains (1) summary
      pfam14769
      Location:130 → 184
      CLAMP; Flagellar C1a complex subunit C1a-32

    RNA

    1. NR_175799.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC122417

    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
      127182527..127187819 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006507745.5 → XP_006507808.1  cilia- and flagella-associated protein 119 isoform X1

      Conserved Domains (1) summary
      pfam14769
      Location:130 → 288
      CLAMP; Flagellar C1a complex subunit C1a-32
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NZQ0.2 GenPept UniProtKB/Swiss-Prot:Q6NZQ0

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