Cep131 Gene Summary [Mouse]

The protein encoding this gene is a centriolar satellite protein that localizes around the basal body via transport along microtubules. Knockdown in mouse fibroblasts results in a reduction in ciliogenesis. Null mutant mice display no discernible ciliary phenotypes and embryonic patterning and adult homeostasis are largely unaffected. Male mice are infertile, however, due to defects in microtubule trafficking in the sperm manchette and flagella. In addition, the protein binds to a complex of proteins associated with Bardet-Biedl syndrome called the BBSome, and depletion of this protein results in an accumulation of the BBSome in cilia. [provided by RefSeq, Oct 2014]

Details

Type
Protein Coding
Official Symbol
Cep131
Official Name
centrosomal protein 131 [Source:MGI Symbol;Acc:MGI:107440]
Ensembl ID
ENSMUSG00000039781
Bio databases IDs NCBI: 12009 Ensembl: ENSMUSG00000039781
Aliases centrosomal protein 131
Synonyms AZ1, Azi, AZI1, centrosomal protein 131, ZA1
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 Cep131 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • binding protein
  • protein homodimerization
  • protein binding
  • Intermediate filament protein
  • Calcium binding and coiled-coil domain (CALCOCO1) like

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • breast cancer
  • frontotemporal dementia
regulated by
role in cell
  • expression in
  • proliferation
  • development
  • formation
  • assembly
  • duplication

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
  • microtubule cytoskeleton
  • ciliary transition zone
  • intracellular membrane-bounded organelle
  • centriolar satellite
  • cilia
  • basal bodies
  • centrosome
  • centriole
  • cytoplasmic bridges
  • cytosol
  • nucleoplasm
  • nuclear envelope
  • acrosome

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Cep131 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • positive regulation of intracellular protein transport
  • cilium morphogenesis
  • regulation of centrosome duplication
  • positive regulation of cell proliferation
  • intraflagellar transport involved in cilium morphogenesis
  • sperm axoneme assembly
  • protein localization to centrosome

Cellular Component

Where in the cell the gene product is active
  • centrosome
  • nuclear membrane
  • centriole
  • cilium basal body
  • acrosomal vesicle
  • centriolar satellite
  • cytosol
  • ciliary transition zone
  • manchette
  • nucleoplasm

Molecular Function

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

Gene-Specific Assays for Results You Can Trust

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