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    Cfap221 cilia and flagella associated protein 221 [ Mus musculus (house mouse) ]

    Gene ID: 226356, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Cfap221provided by MGI
    Official Full Name
    cilia and flagella associated protein 221provided by MGI
    Primary source
    MGI:MGI:2684947
    See related
    Ensembl:ENSMUSG00000036962 AllianceGenome:MGI:2684947
    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
    Gm101; Pcdp1
    Summary
    Enables calmodulin binding activity. Acts upstream of or within epithelial cilium movement involved in extracellular fluid movement; establishment of localization in cell; and sperm flagellum assembly. Located in cytoplasm; manchette; and sperm flagellum. Orthologous to human CFAP221 (cilia and flagella associated protein 221). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis adult (RPKM 4.0) and lung adult (RPKM 0.2) See more
    Orthologs
    human all
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    Genomic context

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    See Cfap221 in Genome Data Viewer
    Location:
    1 E2.3; 1 52.54 cM
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (119851070..119934624, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (119923340..120006958, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene 3551 Neighboring gene STARR-positive B cell enhancer ABC_E9474 Neighboring gene predicted gene 28209 Neighboring gene transmembrane protein 177 Neighboring gene predicted gene, 17973 Neighboring gene predicted gene, 33817 Neighboring gene secretin receptor Neighboring gene predicted gene, 33764 Neighboring gene predicted gene, 41936

    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. Enhanced response to pulmonary Streptococcus pneumoniae infection is associated with primary ciliary dyskinesia in mice lacking Pcdp1 and Spef2. McKenzie CW, et al. Cilia, 2013 Dec 20. PMID 24360193, Free PMC Article
    2. Genetic interaction between central pair apparatus genes CFAP221, CFAP54, and SPEF2 in mouse models of primary ciliary dyskinesia. McKenzie CW, et al. Sci Rep, 2020 Jul 23. PMID 32704025, Free PMC Article
    3. SPAG17 Is Required for Male Germ Cell Differentiation and Fertility. Kazarian E, et al. Int J Mol Sci, 2018 Apr 21. PMID 29690537, Free PMC Article
    4. Pcdp1 is a central apparatus protein that binds Ca(2+)-calmodulin and regulates ciliary motility. DiPetrillo CG, et al. J Cell Biol, 2010 May 3. PMID 20421426, Free PMC Article
    5. Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1. Lee L, et al. Mol Cell Biol, 2008 Feb. PMID 18039845, Free PMC Article

    See all (8) 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 calmodulin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within cerebrospinal fluid circulation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within cerebrospinal fluid circulation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within establishment of localization in cell IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within establishment of localization in cell IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within mucociliary clearance IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within mucociliary clearance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within sperm flagellum assembly IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within sperm flagellum assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in 9+2 motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in 9+2 motile cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in glial cell projection IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in manchette IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_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 221
    Names
    primary ciliary dyskinesia 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_001115074.2 → NP_001108546.1  cilia- and flagella-associated protein 221

      See identical proteins and their annotated locations for NP_001108546.1

      Status: VALIDATED

      Source sequence(s)
      AC124760, AC165443
      Consensus CDS
      CCDS48340.1
      UniProtKB/Swiss-Prot
      A9Q751
      Related
      ENSMUSP00000134576.2, ENSMUST00000174370.8
      Conserved Domains (1) summary
      cl13764
      Location:60 → 127
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    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
      119851070..119934624 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017319882.3 → XP_017175371.1  cilia- and flagella-associated protein 221 isoform X1

      UniProtKB/Swiss-Prot
      A9Q751
      Conserved Domains (1) summary
      cl13764
      Location:60 → 127
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    2. XM_017319886.1 → XP_017175375.1  cilia- and flagella-associated protein 221 isoform X2

    3. XM_006529404.3 → XP_006529467.1  cilia- and flagella-associated protein 221 isoform X3

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A9Q751.1 GenPept UniProtKB/Swiss-Prot:A9Q751

    Gene LinkOut

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