| URN | urn:agi-llid:6010 |
|---|---|
| Total Entities | 0 |
| Connectivity | 626 |
| 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] |
| Ariadne Ontology | Secreted proteins |
|---|---|
| Biofluids assayable substances |
| GO Molecular Function | retinal binding |
|---|---|
| metal ion binding | |
| photoreceptor activity | |
| G-protein coupled receptor activity | |
| signal transducer activity |
| GO Cellular Component | membrane |
|---|---|
| rough endoplasmic reticulum membrane | |
| photoreceptor outer segment membrane | |
| integral to plasma membrane | |
| integral to membrane | |
| plasma membrane | |
| photoreceptor inner segment membrane | |
| photoreceptor inner segment | |
| Golgi apparatus | |
| photoreceptor outer segment |
| GO Biological Process | response to stimulus |
|---|---|
| signal transduction | |
| phototransduction | |
| G-protein coupled receptor signaling pathway | |
| rhodopsin mediated signaling pathway | |
| red, far-red light phototransduction | |
| phototransduction, visible light | |
| protein-chromophore linkage | |
| protein phosphorylation | |
| cellular response to light stimulus | |
| detection of light stimulus | |
| response to light stimulus | |
| retina development in camera-type eye | |
| sensory perception of light stimulus | |
| visual perception |
| Pathway | Vitamin A (retinol) metabolism and visual cycle |
|---|---|
| visual phototransduction pathway | |
| retinoid cycle metabolic pathway | |
| retinitis pigmentosa pathway | |
| altered visual phototransduction pathway | |
| altered retinoid cycle metabolic pathway |
| Group | response to stimulus |
|---|---|
| signal transduction | |
| phototransduction | |
| G-protein coupled receptor signaling pathway | |
| rhodopsin mediated signaling pathway | |
| red, far-red light phototransduction | |
| phototransduction, visible light | |
| protein-chromophore linkage | |
| protein phosphorylation | |
| cellular response to light stimulus | |
| detection of light stimulus | |
| response to light stimulus | |
| retina development in camera-type eye | |
| sensory perception of light stimulus | |
| visual perception | |
| retinal binding | |
| metal ion binding | |
| photoreceptor activity | |
| G-protein coupled receptor activity | |
| signal transducer activity | |
| membrane | |
| rough endoplasmic reticulum membrane | |
| photoreceptor outer segment membrane | |
| integral to plasma membrane | |
| integral to membrane | |
| plasma membrane | |
| photoreceptor inner segment membrane | |
| photoreceptor inner segment | |
| Golgi apparatus | |
| photoreceptor outer segment | |
| Secreted proteins | |
| Biofluids assayable substances |
| MedScan ID | 6010 |
|---|
| Hugo ID | 10012 |
|---|
| Human chromosome position | 3q21-q24 |
|---|
| LocusLink ID | 6010 |
|---|---|
| 212541 | |
| 24717 |
| Alias | RP4 |
|---|---|
| OPN2 | |
| CSNBAD1 | |
| rhodopsin | |
| opsin-2 | |
| opsin 2, rod pigment | |
| Ops | |
| Noerg1 | |
| L opsin | |
| opsin 2 | |
| LWS opsin | |
| Red Opsin | |
| Rod Opsin | |
| Long Wavelength Sensitive opsin | |
| Rhodopsin (retinitis pigmentosa 4, autosomal dominant) | |
| Opsin II | |
| retinitis pigmentosa 4, autosomal dominant | |
| rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominan | |
| rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant) | |
| rhodopsins | |
| visual purple | |
| metarhodopsin II | |
| lumirhodopsin | |
| MGC138309 | |
| isorhodopsin | |
| metarhodopsin | |
| metarhodopsin I | |
| metarhodopsins | |
| bathorhodopsin | |
| MGC138311 | |
| MGC21585 | |
| MGC25387 | |
| L opsins |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 180380 |
|---|---|
| 610445 | |
| 136880 | |
| 613731 |
| Unigene ID | Hs.247565 |
|---|---|
| Mm.2965 | |
| Mm.406156 | |
| Rn.92530 |
| KEGG ID | hsa:6010 |
|---|---|
| mmu:212541 | |
| rno:24717 |
| Swiss-Prot Accession | P08100 |
|---|---|
| P15409 | |
| P51489 | |
| Q8K0D8 | |
| Q96DZ2 | |
| Q16414 | |
| Q2M249 | |
| Q3TPK4 |
| GO ID | 0004930 |
|---|---|
| 0046872 | |
| 0009881 | |
| 0007186 | |
| 0007603 | |
| 0006468 | |
| 0018298 | |
| 0060041 | |
| 0016056 | |
| 0007601 | |
| 0005794 | |
| 0005887 | |
| 0001917 | |
| 0060342 | |
| 0001750 | |
| 0042622 | |
| 0005886 | |
| 0016918 | |
| 0004871 | |
| 0071482 | |
| 0009583 | |
| 0007602 | |
| 0009585 | |
| 0009416 | |
| 0050896 | |
| 0050953 | |
| 0007165 | |
| 0016021 | |
| 0016020 | |
| 0030867 | |
| 0009586 | |
| 0004872 |
| PIR ID | A23665 |
|---|---|
| S51677 | |
| A41200 |
| Swiss-Prot ID | OPSD_MOUSE |
|---|---|
| OPSD_RAT | |
| OPSD_HUMAN | |
| Q8K0D8_MOUSE |
| Cell Localization | Membrane |
|---|
| IPI ID | IPI00130448 |
|---|---|
| IPI00231956 | |
| IPI00027391 | |
| IPI00169550 | |
| IPI00653892 |
| Mouse chromosome position | 6 51.5 cM |
|---|
| Rat chromosome position | 4q42 |
|---|
| Homologene ID | 68068 |
|---|
| MGI ID | 97914 |
|---|
| RGD ID | 3573 |
|---|