| URN | urn:agi-llid:6010 |
|---|---|
| Connectivity | 259 |
| Name | Rho |
| Description | rhodopsin |
| Notes | Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form,which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual transduction cascade. Defects in this gene are also one of the causes of congenital stationary night blindness. [provided by RefSeq] |
| Pathway | visual phototransduction pathway |
|---|---|
| retinoid cycle metabolic pathway |
| GO Molecular Function | signal transducer activity |
|---|---|
| metal ion binding | |
| receptor activity | |
| photoreceptor activity | |
| G-protein coupled receptor activity |
| GO Cellular Component | photoreceptor inner segment |
|---|---|
| membrane | |
| photoreceptor outer segment membrane | |
| photoreceptor inner segment membrane | |
| plasma membrane | |
| integral to membrane | |
| integral to plasma membrane | |
| photoreceptor outer segment |
| GO Biological Process | response to stimulus |
|---|---|
| sensory perception of light stimulus | |
| visual perception | |
| phototransduction | |
| signal transduction | |
| phototransduction, visible light | |
| rhodopsin mediated phototransduction | |
| protein-chromophore linkage | |
| protein amino acid phosphorylation | |
| detection of light stimulus | |
| response to light stimulus | |
| G-protein coupled receptor protein signaling pathway | |
| rhodopsin mediated signaling pathway |
| Group | response to stimulus |
|---|---|
| sensory perception of light stimulus | |
| visual perception | |
| phototransduction | |
| signal transduction | |
| phototransduction, visible light | |
| rhodopsin mediated phototransduction | |
| protein-chromophore linkage | |
| protein amino acid phosphorylation | |
| detection of light stimulus | |
| response to light stimulus | |
| G-protein coupled receptor protein signaling pathway | |
| rhodopsin mediated signaling pathway | |
| signal transducer activity | |
| metal ion binding | |
| receptor activity | |
| photoreceptor activity | |
| G-protein coupled receptor activity | |
| photoreceptor inner segment | |
| membrane | |
| photoreceptor outer segment membrane | |
| photoreceptor inner segment membrane | |
| plasma membrane | |
| integral to membrane | |
| integral to plasma membrane | |
| photoreceptor outer segment |
| MedScan ID | 6010 |
|---|
| Hugo ID | 10012 |
|---|
| Human chromosome position | 3q21-q24 |
|---|
| LocusLink ID | 6010 |
|---|---|
| 212541 | |
| 24717 |
| Alias | RP4 |
|---|---|
| OPN2 | |
| CSNBAD1 | |
| MGC138309 | |
| MGC138311 | |
| rhodopsin | |
| opsin-2 | |
| opsin 2, rod pigment | |
| retinitis pigmentosa 4, autosomal dominant | |
| rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant) | |
| Ops | |
| Noerg1 | |
| MGC21585 | |
| MGC25387 | |
| L opsin | |
| opsin 2 | |
| LWS opsin | |
| Red Opsin | |
| Rod Opsin | |
| Long Wavelength Sensitive opsin | |
| Rhodopsin (retinitis pigmentosa 4, autosomal dominant) | |
| bathorhodopsin | |
| isorhodopsin | |
| L opsins | |
| lumirhodopsin | |
| metarhodopsin | |
| metarhodopsin I | |
| metarhodopsin II | |
| metarhodopsins | |
| Opsin II | |
| rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominan | |
| rhodopsins | |
| visual purple |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 180380 |
|---|---|
| 610445 |
| Mouse chromosome position | 6 51.5 cM |
|---|
| GO ID | 0004930 |
|---|---|
| 0046872 | |
| 0009881 | |
| 0007186 | |
| 0007603 | |
| 0006468 | |
| 0018298 | |
| 0050896 | |
| 0009586 | |
| 0016056 | |
| 0007601 | |
| 0005887 | |
| 0060342 | |
| 0042622 | |
| 0005886 | |
| 0004872 | |
| 0004871 | |
| 0009583 | |
| 0007602 | |
| 0009416 | |
| 0050953 | |
| 0007165 | |
| 0016021 | |
| 0016020 | |
| 0001917 | |
| 0001750 |
| Rat chromosome position | 4q42 |
|---|
| Swiss-Prot Accession | P08100 |
|---|---|
| Q8K0D8 | |
| P15409 | |
| Q3TPK4 | |
| P51489 | |
| Q16414 | |
| Q2M249 | |
| Q96DZ2 |
| PIR ID | S51677 |
|---|---|
| A41200 |
| Unigene ID | Hs.247565 |
|---|---|
| Mm.2965 | |
| Mm.406156 | |
| Rn.92530 |
| KEGG ID | hsa:6010 |
|---|---|
| mmu:212541 | |
| rno:24717 |
| Swiss-Prot ID | OPSD_RAT |
|---|---|
| OPSD_HUMAN | |
| Q8K0D8_MOUSE |
| Cell Localization | Membrane |
|---|
| IPI ID | IPI00231956 |
|---|---|
| IPI00027391 | |
| IPI00169550 | |
| IPI00130448 | |
| IPI00653892 |
| Homologene ID | 68068 |
|---|
| RGD ID | 3573 |
|---|
| MGI ID | 97914 |
|---|