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    Cfap45 cilia and flagella associated protein 45 [ Mus musculus (house mouse) ]

    Gene ID: 71870, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Cfap45provided by MGI
    Official Full Name
    cilia and flagella associated protein 45provided by MGI
    Primary source
    MGI:MGI:1919120
    See related
    Ensembl:ENSMUSG00000026546 AllianceGenome:MGI:1919120
    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
    Nesg1; Ccdc19; 1700028D05Rik
    Summary
    Predicted to enable AMP binding activity. Involved in flagellated sperm motility. Acts upstream of or within cerebrospinal fluid circulation; epithelial cilium movement involved in determination of left/right asymmetry; and regulation of cilium beat frequency involved in ciliary motility. Located in 9+0 motile cilium. Is active in axonemal B tubule inner sheath and sperm flagellum. Is expressed in lateral ventricle choroid plexus; lung; metencephalon part of 4th ventricle choroid plexus; and olfactory epithelium. Human ortholog(s) of this gene implicated in visceral heterotaxy. Orthologous to human CFAP45 (cilia and flagella associated protein 45). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis adult (RPKM 57.4) and lung adult (RPKM 1.6) See more
    Orthologs
    human all
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    Genomic context

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    See Cfap45 in Genome Data Viewer
    Location:
    1 H3; 1 79.91 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (172348697..172373437)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (172521130..172545870)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E4391 Neighboring gene immunoglobulin superfamily, member 9 Neighboring gene transgelin 2 Neighboring gene STARR-positive B cell enhancer ABC_E2587 Neighboring gene STARR-positive B cell enhancer ABC_E9066 Neighboring gene STARR-seq mESC enhancer starr_03067 Neighboring gene STARR-positive B cell enhancer ABC_E7779 Neighboring gene STARR-positive B cell enhancer mm9_chr1:174458799-174459099 Neighboring gene RIKEN cDNA 4933439K11 gene Neighboring gene STARR-seq mESC enhancer starr_03068 Neighboring gene V-set and immunoglobulin domain containing 8 Neighboring gene SLAM family member 8

    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 cilia and flagella associated protein CFAP52 orchestrated with CFAP45 is required for sperm motility in mice. Wu B, et al. J Biol Chem, 2023 Jul. PMID 37236356, Free PMC Article
    2. CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module. Dougherty GW, et al. Nat Commun, 2020 Nov 2. PMID 33139725, Free PMC Article
    3. Comparative physical and transcript maps of approximately 1 Mb around loop-tail, a gene for severe neural tube defects on distal mouse chromosome 1 and human chromosome 1q22-q23. Doudney K, et al. Genomics, 2001 Mar 1. PMID 11401431
    4. De novo protein identification in mammalian sperm using in situ cryoelectron tomography and AlphaFold2 docking. Chen Z, et al. Cell, 2023 Nov 9. PMID 37865089, Free PMC Article
    5. In-cell structural insight into the stability of sperm microtubule doublet. Tai L, et al. Cell Discov, 2023 Nov 21. PMID 37989994, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
      Title: CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
    Submit: New GeneRIF Correction

    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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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables AMP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within cerebrospinal fluid circulation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within epithelial cilium movement involved in determination of left/right asymmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in establishment of left/right asymmetry IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in flagellated sperm motility IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of cilium beat frequency involved in ciliary motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in 9+0 motile cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in axonemal B tubule inner sheath IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in axonemal microtubule ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in axonemal microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 45
    Names
    coiled-coil domain containing 19
    coiled-coil domain-containing protein 19
    nasopharyngeal epithelium specific 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_027972.1 → NP_082248.1  cilia- and flagella-associated protein 45

      See identical proteins and their annotated locations for NP_082248.1

      Status: VALIDATED

      Source sequence(s)
      AK006449, BY229665
      Consensus CDS
      CCDS48447.1
      UniProtKB/Swiss-Prot
      Q9D9U9
      Related
      ENSMUSP00000083057.6, ENSMUST00000085894.12
      Conserved Domains (2) summary
      pfam13868
      Location:187 → 532
      TPH; Trichohyalin-plectin-homology domain
      cl19818
      Location:330 → 385
      DUF106; Integral membrane protein DUF106

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      172348697..172373437
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036153691.1 → XP_036009584.1  cilia- and flagella-associated protein 45 isoform X1

      Conserved Domains (1) summary
      pfam13868
      Location:155 → 495
      TPH; Trichohyalin-plectin-homology domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D9U9.1 GenPept UniProtKB/Swiss-Prot:Q9D9U9

    Gene LinkOut

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

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