ROM1 - retinal outer segment membrane protein 1 Gene
Also Known as ROM; RP7; ROSP1; TSPAN23
生物種: Homo sapiens
About ROM1
This gene has 5 transcripts (splice variants), 237 orthologues, 32 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 5.2), ovary (RPKM 2.2) and 23 other tissues.
Summary
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]
ROM1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000327.4 | NP_000318.2 | rod outer segment membrane protein 1 |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
ROM1 Protein Structure
Tetraspannin: Tetraspanin family (21 - 287)
- 0
- 100
- 200
- 300
- 351 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
rod outer segment membrane protein 1 |
|
ROM1 Protein-protein interaction Information
|
Type
|
タンパク質名 | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | 参考文献 |
|---|---|---|---|---|---|---|---|
|
Intra
|
ROM1 | Q03395 | MYG1 | Homo sapiens | Q9HB07 | 32296183 | |
|
Intra
|
ROM1 | Q03395 | ORMDL3 | Homo sapiens | Q8N138 | 32296183 |
Recombinant ROM1 Proteins
| 製品番号 | 製品名 | アクセッション番号 | 純度 |
|---|---|---|---|
| HY-P74594 | ROM1 Protein, Human (His) | Q03395 (P126-D263) | ≥ 95%, as determined by reducing SDS-PAGE. |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Retinitis Pigmentosa 7 |
|
|
| Retinitis Pigmentosa |
|
|
| Meningococcal Infection |
|
|
| Vitelliform Macular Dystrophy |
|
|
| Retinitis |
|
|
| Retinal Degeneration |
|
|
| Hereditary Choroidal Atrophy |
|
|
| Partial Central Choroid Dystrophy |
|
|
| Fundus Dystrophy |
|
|
| Exudative Vitreoretinopathy 5 |
|
|
| Retinitis Pigmentosa 1 |
|
|
| Retinal Cone Dystrophy 4 |
|
|
| Pseudoretinitis Pigmentosa |
|
|
| Choroidal Dystrophy, Central Areolar, 1 |
|
|
| Stargardt Disease 1 |
|
|
| Retinitis Pigmentosa 9 |
|
|
| Eye Disease |
|
|
| Enhanced S-Cone Syndrome |
|
|
| Orofaciodigital Syndrome X |
|
|
| Fundus Albipunctatus |
|
|
| Eye Degenerative Disease |
|
|
| Macular Degeneration, Age-Related, 1 |
|
|
| Nanophthalmos |
|
|
| Stargardt Disease |
|
|
| Cone-Rod Dystrophy 16 |
|
|
| Cone-Rod Dystrophy 2 |
|
|
| Congenital Stationary Night Blindness |
|
|
| Cone Dystrophy |
|
|
| Bardet-Biedl Syndrome 1 |
|
|
| Usher Syndrome |
|
|
| Late-Onset Retinal Degeneration |
|
|
| Leber Plus Disease |
|
|
| Bardet-Biedl Syndrome |
|
|
| Joubert Syndrome 1 |
|
|
Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Felis catus | ROM1 | VGNC | VGNC:64717 |
| Bos taurus | ROM1 | VGNC | VGNC:34084 |
| Canis familiaris | ROM1 | VGNC | VGNC:45690 |
| Mus musculus | ROM1 | MGD | MGI:97998 |
| Macaca mulatta | ROM1 | VGNC | VGNC:107635 |
| Rattus norvegicus | ROM1 | RGD | RGD:1306070 |
| Others | ROM1 | NCBI |