ROM1: Retinal Outer Segment Membrane Protein 1
Key component of photoreceptor disc rim structure, associated with retinitis pigmentosa and macular degeneration
Gene Information Card
| Symbol | ROM1 |
|---|---|
| Full Name | Retinal Outer Segment Membrane Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.3 |
| NCBI Gene ID | 6094 ncbi.nlm.nih.gov/gene/6094 |
| Ensembl ID | ENSG00000149489 |
| UniProt ID | Q03395 |
| OMIM ID | 180721 |
| HGNC ID | 10254 |
| Aliases | ROM, RP7, TSPAN23, ROSP1 |
Description
ROM1 encodes a photoreceptor-specific membrane protein that localizes to the rim region of rod outer segment discs. It forms a complex with peripherin-2 (PRPH2) and is essential for maintaining the curvature and structural integrity of disc rims. Mutations in ROM1 can cause autosomal recessive retinitis pigmentosa and digenic retinitis pigmentosa when co-inherited with a PRPH2 mutation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa (autosomal recessive) | Loss-of-function mutations in ROM1 disrupt disc rim formation, leading to progressive photoreceptor degeneration | ClinVar, OMIM |
| Digenic retinitis pigmentosa | Co-inheritance of ROM1 and PRPH2 mutations causes synergistic disruption of the peripherin-2/ROM1 complex, resulting in RP | OMIM, NCBI |
| Macular degeneration (age-related, susceptibility) | Rare variants in ROM1 may contribute to AMD risk through altered disc structure | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | High (nTPM > 100) | High |
| Brain (cerebellum) | Low (nTPM < 1) | Low |
| Testis | Low (nTPM < 1) | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 0.2 | Very low expression |
| HUVEC (umbilical vein endothelial) | 0.0 | Not detected |
| HEK 293 (embryonic kidney) | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.114delA (p.Gly39Alafs*19) | Frameshift deletion | Rare | Loss of function; associated with autosomal recessive RP |
| c.133C>T (p.Arg45Cys) | Missense | Rare | Disrupts disulfide bond formation; digenic RP with PRPH2 mutation |
| c.482G>A (p.Arg161Gln) | Missense | Rare | Alters protein folding; reported in digenic RP |
| c.565C>T (p.Arg189Trp) | Missense | Rare | Impairs peripherin-2 binding; digenic RP |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated or absent ROM1 protein, causing autosomal recessive retinitis pigmentosa.
Gain of Function (GOF)
No gain-of-function mutations reported for ROM1.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg45Cys) can exert a dominant-negative effect when co-expressed with mutant PRPH2, leading to digenic retinitis pigmentosa.
View complete mutation data：
Gene Ontology (GO)
| • Photoreceptor outer segment membrane | • Photoreceptor disc membrane |
| • Protein homodimerization activity | • Protein heterodimerization activity |
| • Visual perception | • Retina development in camera-type eye |
Pathways
• Phototransduction cascade
• Retinoid cycle
• Cilium assembly and maintenance
Protein Summary
ROM1 is a 351-amino acid transmembrane glycoprotein belonging to the tetraspanin family. It localizes to the rim region of rod outer segment discs, where it forms disulfide-linked homodimers and heterodimers with peripherin-2 (PRPH2). This complex is critical for maintaining the high curvature of disc rims and for disc morphogenesis. Loss of ROM1 function leads to disorganized disc stacks and photoreceptor cell death.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ROM1 Knockout HEK293 Cell Line | EDJ-KQ50571 | Human | 6094 | Details Get a Quote |
| ROM1 Knockout HeLa Cell Line | EDJ-KQ54334 | Human | 6094 | Details Get a Quote |
| ROM1 Knockout A-549 Cell Line | EDJ-KQ62828 | Human | 6094 | Details Get a Quote |
| ROM1 Knockout HCT 116 Cell Line | EDJ-KQ71294 | Human | 6094 | Details Get a Quote |
