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

    Gene ID: 71870, updated on 19-Jun-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. Acts upstream of or within epithelial cilium movement involved in extracellular fluid movement; flagellated sperm motility; and regulation of cilium beat frequency involved in ciliary motility. Located in 9+0 motile cilium. Is expressed in lateral ventricle choroid plexus; lung; metencephalon part of 4th ventricle choroid plexus; and olfactory epithelium. Orthologous to human CFAP45 (cilia and flagella associated protein 45). [provided by Alliance of Genome Resources, Apr 2022]
    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. 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
    2. 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
    3. Identification of FOXJ1 effectors during ciliogenesis in the foetal respiratory epithelium and embryonic left-right organiser of the mouse. Stauber M, et al. Dev Biol, 2017 Mar 15. PMID 27914912
    4. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article
    5. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article

    See all (13) 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)

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables AMP binding ISO
    Inferred from Sequence Orthology
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in flagellated sperm motility ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 
    located_in 9+2 motile cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 axoneme ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    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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