C1qtnf5 Gene Summary [Mouse]
The protein encoded by this gene is a member of the C1q/tumor necrosis factor superfamily. This family member is a secretory protein that functions in eye development. Mutations in this gene are thought to underlie the pathophysiology of late-onset retinal degeneration (L-ORD) and early-onset long anterior zonules (LAZ). Bicistronic transcripts composed of the coding sequences for this gene (C1qtnf5) and the membrane-type frizzled-related protein gene (Mfrp) have been identified, and the resulting products can interact with each other. Co-transcription of C1qtnf5 and Mfrp has been observed in both human and mouse. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
Details
| Type | Protein Coding |
| Official Symbol | C1qtnf5 |
| Official Name | C1q and tumor necrosis factor related protein 5 [Source:MGI Symbol;Acc:MGI:2385958] |
| Ensembl ID | ENSMUSG00000079592 |
| Bio databases IDs | |
| Aliases | C1q and tumor necrosis factor related protein 5 |
| Synonyms | Adie, C1q and TNF related 5, C1q and tumor necrosis factor related protein 5, C1q and tumour necrosis factor related protein 5, CTRP5, MFRP |
| Species | Mouse, Mus musculus |
| Orthologies |
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 C1qtnf5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- aromatic motif
- globular domain
- Collagen triple helix repeat (20 copies)
- protein binding
- identical protein binding
- transmembrane receptor
- C1q domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- retinal degeneration
- preeclampsia
- posterior microphthalmia with retinitis pigmentosa foveoschisis and optic disc drusen
- nanophthalmos 2
- retinal dystrophy
- microphthalmia
- autosomal dominant late-onset retinal degeneration
role in cell
- phosphorylation in
- oxidation 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.
- Plasma Membrane
- Cytoplasm
- Extracellular Space
- cellular membrane
- apical membrane
- lateral plasma membrane
- transport vesicles
- tight junctions
- cellular protrusions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse C1qtnf5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- inner ear development
- protein secretion
Cellular Component
Where in the cell the gene product is active
- tight junction
- extracellular space
- lateral plasma membrane
- collagen
- transport vesicle
- cell projection
- apical plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding