ROM1 Gene Summary [Human]
This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration slow (RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ROM1 |
| Official Name | retinal outer segment membrane protein 1 [Source:HGNC Symbol;Acc:HGNC:10254] |
| Ensembl ID | ENSG00000149489 |
| Bio databases IDs | |
| Aliases | retinal outer segment membrane protein 1 |
| Synonyms | M101156, retinal outer segment membrane protein 1, Rgsc1156, rod outer segment membrane protein 1, ROM, ROSP1, RP7, TSPAN23 |
| 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 ROM1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- tetraspanin_LEL
- protein homodimerization
- 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
- Huntington disease
- retinitis pigmentosa type 7
- spinocerebellar ataxia type 7
- autosomal dominant retinitis pigmentosa
- neurodegeneration
- retinal dystrophy
role in cell
- synaptic transmission
- apoptosis
- size
- differentiation
- abnormal morphology
- length
- degeneration
- electrophysiology
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
- membrane fraction
- cell surface
- cell periphery
- cellular membrane
- axonemes
- photoreceptor outer segments
- rod outer segments
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ROM1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- retina vasculature development in camera-type eye
- detection of light stimulus involved in visual perception
- regulation of gene expression
- protein homooligomerization
- photoreceptor cell outer segment organization
- protein heterooligomerization
- camera-type eye photoreceptor cell differentiation
- cell adhesion
- visual perception
Cellular Component
Where in the cell the gene product is active
- plasma membrane
- photoreceptor outer segment membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein homodimerization activity