RGR - retinal G protein coupled receptor Gene
Also Known as RP44
Species: Homo sapiens
About RGR
This gene has 18 transcripts (splice variants), 196 orthologues, 23 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 4.9) and testis (RPKM 0.4).
Summary
This gene encodes a putative retinal G-protein coupled receptor. The gene is a member of the opsin subfamily of the 7 transmembrane, G-protein coupled receptor 1 family. Like Other opsins which bind retinaldehyde, it contains a conserved lysine residue in the seventh transmembrane domain. The protein acts as a photoisomerase to catalyze the conversion of all-trans-retinal to 11-cis-retinal. The reverse isomerization occurs with rhodopsin in retinal photoreceptor cells. The protein is exclusively expressed in tissue adjacent to retinal photoreceptor cells, the retinal pigment epithelium and Mueller cells. This gene may be associated with autosomal recessive and autosomal dominant retinitis pigmentosa (arRP and adRP, respectively). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
RGR Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001012720.2 | NP_001012738.1 | RPE-retinal G protein-coupled receptor isoform 2 |
| NM_001012722.2 | NP_001012740.1 | RPE-retinal G protein-coupled receptor isoform 3 |
| NM_002921.4 | NP_002912.2 | RPE-retinal G protein-coupled receptor isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16189514 | GOA |
RGR Protein Structure
7tm_1: 7 transmembrane receptor (rhodopsin family) (34 - 212)
- 0
- 100
- 200
- 295 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
RPE-retinal G protein-coupled receptor |
|
RGR Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
RGR | P47804 | KIFBP | Homo sapiens | Q96EK5 | 16189514 | |
|
Intra
|
RGR | P47804 | KIFBP | Homo sapiens | Q96EK5 | 16189514 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Retinitis Pigmentosa 44 |
|
|
| Retinitis Pigmentosa |
|
|
| Fundus Dystrophy |
|
|
| Bothnia Retinal Dystrophy |
|
|
| Cone-Rod Dystrophy 2 |
|
|
| Fundus Albipunctatus |
|
|
| Microphthalmia, Syndromic 9 |
|
|
| Congenital Stationary Night Blindness |
|
|
| Stargardt Disease |
|
|
| Cone Dystrophy |
|
|
| Leber Plus Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | RGR | MGD | MGI:1929473 |
| Macaca mulatta | RGR | VGNC | VGNC:76913 |
| Rattus norvegicus | RGR | RGD | RGD:1309174 |
| Canis familiaris | RGR | VGNC | VGNC:45518 |
| Bos taurus | RGR | VGNC | VGNC:33909 |
| Felis catus | RGR | VGNC | VGNC:69309 |
| Others | RGR | NCBI |