C1QTNF5 Gene Summary [Human]
This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013]
Details
| Type | Protein Coding |
| Official Symbol | C1QTNF5 |
| Official Name | C1q and TNF related 5 [Source:HGNC Symbol;Acc:HGNC:14344] |
| Ensembl ID | ENSG00000223953 |
| Bio databases IDs | |
| Aliases | C1q and TNF related 5, complement-c1q tumor necrosis factor-related protein 5, myonectin |
| 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 | Human, Homo sapiens |
| 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 human 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 human 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