NXNL1 Gene Summary [Human]
Retinitis pigmentosa (RP) is a disease that leads to blindness by degeneration of cone photoreceptors. Rods produce factors required for cone viability. The protein encoded by this gene is one of those factors and is similar to a truncated form of thioredoxin. This gene has been proposed to have therapeutic value against RP. [provided by RefSeq, Dec 2015]
Details
| Type | Protein Coding |
| Official Symbol | NXNL1 |
| Official Name | nucleoredoxin like 1 [Source:HGNC Symbol;Acc:HGNC:25179] |
| Ensembl ID | ENSG00000171773 |
| Bio databases IDs | |
| Aliases | nucleoredoxin like 1, rod-derived cone viability factor |
| Synonyms | A930031O08Rik, LOC108353096, nucleoredoxin-like 1, RDCVF, TXNL6 |
| 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 NXNL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- thioredoxin-like domain
- Thioredoxin-like
- Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
- receptor agonist activity
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- cone matrix sheath
- photoreceptor outer segments
- interphotoreceptor matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NXNL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- photoreceptor cell maintenance
Cellular Component
Where in the cell the gene product is active
- photoreceptor outer segment
Molecular Function
What the gene product does at the molecular level
- protein binding