U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cfap53 cilia and flagella associated protein 53 [ Mus musculus (house mouse) ]

Gene ID: 74453, updated on 16-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
Cfap53provided by MGI
Official Full Name
cilia and flagella associated protein 53provided by MGI
Primary source
MGI:MGI:1921703
See related
Ensembl:ENSMUSG00000035394 AllianceGenome:MGI:1921703
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
Ccdc11; 4933415I03Rik
Summary
Acts upstream of or within epithelial cilium movement involved in extracellular fluid movement; flagellated sperm motility; and protein localization to motile cilium. Located in cytoskeleton and motile cilium. Human ortholog(s) of this gene implicated in visceral heterotaxy. Orthologous to human CFAP53 (cilia and flagella associated protein 53). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis adult (RPKM 7.8) and genital fat pad adult (RPKM 0.6) See more
Orthologs
human all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
18 E2; 18 50.7 cM
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (74416171..74493055)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (74283100..74359984)

Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene ribosomal protein L10A pseudogene Neighboring gene methyl-CpG binding domain protein 1 Neighboring gene fatty acid-binding protein, epidermal pseudogene Neighboring gene STARR-seq mESC enhancer starr_45005 Neighboring gene STARR-seq mESC enhancer starr_45006 Neighboring gene STARR-seq mESC enhancer starr_45007 Neighboring gene predicted gene, 41773 Neighboring gene STARR-seq mESC enhancer starr_45008 Neighboring gene STARR-seq mESC enhancer starr_45009 Neighboring gene STARR-seq mESC enhancer starr_45010 Neighboring gene STARR-seq mESC enhancer starr_45011 Neighboring gene STARR-seq mESC enhancer starr_45012 Neighboring gene STARR-seq mESC enhancer starr_45013 Neighboring gene ribosomal protein S11 pseudogene Neighboring gene STARR-seq mESC enhancer starr_45014 Neighboring gene predicted gene 8987

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Essential Role of CFAP53 in Sperm Flagellum Biogenesis. Wu B, et al. Front Cell Dev Biol, 2021. PMID 34124066, Free PMC Article
  2. CCDC38 is required for sperm flagellum biogenesis and male fertility in mice. Zhang R, et al. Development, 2022 Jun 1. PMID 35587122
  3. CFAP53 regulates mammalian cilia-type motility patterns through differential localization and recruitment of axonemal dynein components. Ide T, et al. PLoS Genet, 2020 Dec. PMID 33347437, Free PMC Article
  4. Placentation defects are highly prevalent in embryonic lethal mouse mutants. Perez-Garcia V, et al. Nature, 2018 Mar 22. PMID 29539633, Free PMC Article
  5. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CFAP53 regulates mammalian cilia-type motility patterns through differential localization and recruitment of axonemal dynein components.
    Title: CFAP53 regulates mammalian cilia-type motility patterns through differential localization and recruitment of axonemal dynein components.
Submit: New GeneRIF Correction

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC117752

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
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 
involved_in cilium assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in determination of left/right symmetry ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within epithelial cilium movement involved in determination of left/right asymmetry IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within establishment of localization in cell IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in manchette assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within protein localization to motile cilium IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sperm flagellum assembly 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 IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in axonemal A 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 IDA
Inferred from Direct Assay
more info
 PubMed 
located_in axoneme ISO
Inferred from Sequence Orthology
more info
  
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
 PubMed 
located_in centriolar satellite ISO
Inferred from Sequence Orthology
more info
  
located_in ciliary transition zone ISO
Inferred from Sequence Orthology
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 manchette IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in sperm flagellum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sperm flagellum IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in spindle pole ISO
Inferred from Sequence Orthology
more info
  

General protein information

Go to the top of the page Help
Preferred Names
cilia- and flagella-associated protein 53
Names
coiled-coil domain containing 11
coiled-coil domain-containing protein 11

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_028948.2 → NP_083224.2  cilia- and flagella-associated protein 53

    See identical proteins and their annotated locations for NP_083224.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter, protein-coding transcript.
    Source sequence(s)
    BC099500, CN835862
    Consensus CDS
    CCDS37857.2
    UniProtKB/Swiss-Prot
    Q4KL15, Q9D439
    Related
    ENSMUSP00000110545.4, ENSMUST00000114895.4
    Conserved Domains (1) summary
    pfam13868
    Location:161 → 490
    TPH; Trichohyalin-plectin-homology domain

RNA

  1. NR_029424.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) includes an alternate exon in the coding region, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK016821, BC099500, CN835862
    Related
    ENSMUST00000176435.8

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_000084.7 Reference GRCm39 C57BL/6J

    Range
    74416171..74493055
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011247012.3 → XP_011245314.1  cilia- and flagella-associated protein 53 isoform X1

    See identical proteins and their annotated locations for XP_011245314.1

    UniProtKB/TrEMBL
    Q059Q0
    Conserved Domains (1) summary
    pfam13868
    Location:71 → 404
    TPH; Trichohyalin-plectin-homology domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9D439.3 GenPept UniProtKB/Swiss-Prot:Q9D439

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous