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    Cfap54 cilia and flagella associated protein 54 [ Mus musculus (house mouse) ]

    Gene ID: 380654, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Cfap54provided by MGI
    Official Full Name
    cilia and flagella associated protein 54provided by MGI
    Primary source
    MGI:MGI:1922208
    See related
    Ensembl:ENSMUSG00000020014 AllianceGenome:MGI:1922208
    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
    Gm872; 4930485B16Rik
    Summary
    Involved in cilium assembly; cilium movement involved in cell motility; and spermatogenesis. Acts upstream of or within cerebrospinal fluid circulation; motile cilium assembly; and mucociliary clearance. Predicted to be located in cilium; cytoplasm; and cytoskeleton. Orthologous to human CFAP54 (cilia and flagella associated protein 54). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis adult (RPKM 2.4), genital fat pad adult (RPKM 0.5) and 7 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    10 C2; 10 47.44 cM
    Exon count:
    72
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (92611471..92919085, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (92775609..93083487, complement)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 31822 Neighboring gene predicted gene, 24241 Neighboring gene STARR-positive B cell enhancer ABC_E1405 Neighboring gene neural precursor cell expressed, developmentally down-regulated gene 1 Neighboring gene STARR-seq mESC enhancer starr_27562 Neighboring gene STARR-seq mESC enhancer starr_27563 Neighboring gene STARR-seq mESC enhancer starr_27564 Neighboring gene STARR-positive B cell enhancer mm9_chr10:92477164-92477464 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:92513489-92513672 Neighboring gene STARR-seq mESC enhancer starr_27566 Neighboring gene STARR-positive B cell enhancer ABC_E1126 Neighboring gene STARR-positive B cell enhancer ABC_E6901 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:92560942-92561243 Neighboring gene predicted gene, 40739 Neighboring gene predicted gene, 32468 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:92587034-92587357 Neighboring gene predicted gene, 40740

    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. CFAP54 is required for proper ciliary motility and assembly of the central pair apparatus in mice. McKenzie CW, et al. Mol Biol Cell, 2015 Sep 15. PMID 26224312, 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. Analysis of the sperm flagellar axoneme using gene-modified mice. Miyata H, et al. Exp Anim, 2020 Nov 12. PMID 32554934, Free PMC Article
    4. BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. Pourhaghighi R, et al. Cell Syst, 2020 Apr 22. PMID 32325033, Free PMC Article
    5. 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

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic interaction between central pair apparatus genes CFAP221, CFAP54, and SPEF2 in mouse models of primary ciliary dyskinesia.
      Title: Genetic interaction between central pair apparatus genes CFAP221, CFAP54, and SPEF2 in mouse models of primary ciliary dyskinesia.
    2. This study identifies a critical role for CFAP54 in proper assembly and function of mammalian cilia and flagella and establishes the gene-trapped allele as a new model of PCD
      Title: CFAP54 is required for proper ciliary motility and assembly of the central pair apparatus in mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 

    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
    acts_upstream_of_or_within cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cerebrospinal fluid circulation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium movement involved in cell motility 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 mucociliary clearance IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within sperm flagellum assembly IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    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 extracellular region IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 54
    Names
    ciliary and flagellar protein 54

    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_001347060.2 → NP_001333989.1  cilia- and flagella-associated protein 54

      Status: VALIDATED

      Source sequence(s)
      AC122326, AC162939, AC168049
      Consensus CDS
      CCDS88073.1
      UniProtKB/Swiss-Prot
      A0A0K0NTX9, D3Z3Q2, E9PUV7, Q8C6S9
      Related
      ENSMUSP00000148636.2, ENSMUST00000212902.2
      Conserved Domains (1) summary
      pfam14858
      Location:104 → 642
      DUF4486; Domain of unknown function (DUF4486)

    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_000076.7 Reference GRCm39 C57BL/6J

      Range
      92611471..92919085 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011243636.4 → XP_011241938.1  cilia- and flagella-associated protein 54 isoform X1

      See identical proteins and their annotated locations for XP_011241938.1

      UniProtKB/Swiss-Prot
      A0A0K0NTX9, D3Z3Q2, E9PUV7, Q8C6S9
      Conserved Domains (1) summary
      pfam14858
      Location:104 → 642
      DUF4486; Domain of unknown function (DUF4486)

    2. XM_011243638.3 → XP_011241940.1  cilia- and flagella-associated protein 54 isoform X1

      See identical proteins and their annotated locations for XP_011241940.1

      UniProtKB/Swiss-Prot
      A0A0K0NTX9, D3Z3Q2, E9PUV7, Q8C6S9
      Conserved Domains (1) summary
      pfam14858
      Location:104 → 642
      DUF4486; Domain of unknown function (DUF4486)

    3. XM_011243639.3 → XP_011241941.1  cilia- and flagella-associated protein 54 isoform X2

      UniProtKB/Swiss-Prot
      A0A0K0NTX9, D3Z3Q2, E9PUV7, Q8C6S9
      Conserved Domains (1) summary
      pfam14858
      Location:104 → 594
      DUF4486; Domain of unknown function (DUF4486)

    4. XM_011243634.3 → XP_011241936.1  cilia- and flagella-associated protein 54 isoform X1

      See identical proteins and their annotated locations for XP_011241936.1

      UniProtKB/Swiss-Prot
      A0A0K0NTX9, D3Z3Q2, E9PUV7, Q8C6S9
      Conserved Domains (1) summary
      pfam14858
      Location:104 → 642
      DUF4486; Domain of unknown function (DUF4486)

    5. XM_030245150.2 → XP_030101010.1  cilia- and flagella-associated protein 54 isoform X3

      UniProtKB/Swiss-Prot
      A0A0K0NTX9, D3Z3Q2, E9PUV7, Q8C6S9
      Conserved Domains (1) summary
      pfam14858
      Location:104 → 642
      DUF4486; Domain of unknown function (DUF4486)

    6. XM_017314190.1 → XP_017169679.1  cilia- and flagella-associated protein 54 isoform X4

    7. XM_036155872.1 → XP_036011765.1  cilia- and flagella-associated protein 54 isoform X5

      Conserved Domains (1) summary
      pfam14858
      Location:104 → 642
      DUF4486; Domain of unknown function (DUF4486)

    RNA

    1. XR_004936212.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C6S9.4 GenPept UniProtKB/Swiss-Prot:Q8C6S9

    Gene LinkOut

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

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