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

Gene ID: 380654, updated on 27-Nov-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 epithelial cilium movement involved in extracellular fluid movement; establishment of localization in cell; and sperm flagellum assembly. Predicted to be located in axoneme. Orthologous to human CFAP54 (cilia and flagella associated protein 54). [provided by Alliance of Genome Resources, Nov 2024]
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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See Cfap54 in Genome Data Viewer
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. 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
  2. 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
  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. Chemical Crosslinking Mass Spectrometry Analysis of Protein Conformations and Supercomplexes in Heart Tissue. Chavez JD, et al. Cell Syst, 2018 Jan 24. PMID 29199018, Free PMC Article
  5. BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. Pourhaghighi R, et al. Cell Syst, 2020 Apr 22. PMID 32325033, Free PMC Article

See all (16) 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 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 axoneme ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

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.

Other Literature Sources
Molecular Biology Databases
Research Materials