Cfap53 Gene Summary [Mouse]

Involved in manchette assembly and sperm flagellum assembly. Acts upstream of or within epithelial cilium movement involved in extracellular fluid movement; establishment of localization in cell; and protein localization to motile cilium. Located in cytoskeleton; glial cell projection; and motile cilium. Is active in axonemal A tubule inner sheath and sperm flagellum. Human ortholog(s) of this gene implicated in visceral heterotaxy 6. Orthologous to human CFAP53 (cilia and flagella associated protein 53). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Cfap53
Official Name
cilia and flagella associated protein 53 [Source:MGI Symbol;Acc:MGI:1921703]
Ensembl ID
ENSMUSG00000035394
Bio databases IDs NCBI: 74453 Ensembl: ENSMUSG00000035394
Aliases cilia and flagella associated protein 53
Synonyms 4933415I03Rik, CCDC11, cilia and flagella associated protein 53, HTX6, RGD1306734
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Cfap53 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Trichohyalin-plectin-homology domain
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • autosomal visceral heterotaxy 6
  • situs ambiguus
regulates
role in cell
  • assembly
  • motility
  • assembly in
  • loss in
  • ciliogenesis in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • motile cilia
  • ciliary transition zone
  • cilia
  • manchette
  • centrosome
  • axonemes
  • spindle pole
  • sperm tail
  • glial cell projections

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Cfap53 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • epithelial cilium movement involved in determination of left/right asymmetry
  • cilium morphogenesis
  • cilium movement
  • determination of left/right symmetry

Cellular Component

Where in the cell the gene product is active
  • axonemal microtubule
  • centriole
  • centriolar satellite
  • spindle pole
  • ciliary transition zone
  • extracellular region
  • sperm flagellum
  • manchette
  • axoneme

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

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