| URN | urn:agi-llid:6017 |
|---|---|
| Total Entities | 0 |
| Connectivity | 75 |
| Name | Rlbp1 |
| Description | retinaldehyde binding protein 1 |
| Notes | The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq] |
| GO Molecular Function | transporter activity |
|---|---|
| retinol binding | |
| 11-cis retinal binding |
| GO Cellular Component | intracellular |
|---|---|
| cell body | |
| cytoplasm |
| GO Biological Process | response to stimulus |
|---|---|
| vitamin A metabolic process | |
| visual perception | |
| transport |
| Pathway | retinoid cycle metabolic pathway |
|---|---|
| retinitis pigmentosa pathway | |
| altered retinoid cycle metabolic pathway |
| Group | response to stimulus |
|---|---|
| vitamin A metabolic process | |
| visual perception | |
| transport | |
| transporter activity | |
| retinol binding | |
| 11-cis retinal binding | |
| intracellular | |
| cell body | |
| cytoplasm |
| MedScan ID | 6017 |
|---|
| Hugo ID | 10024 |
|---|
| Human chromosome position | 15q26 |
|---|
| LocusLink ID | 6017 |
|---|---|
| 19771 | |
| 293049 |
| Alias | CRALBP |
|---|---|
| retinaldehyde-binding protein 1 | |
| cellular retinaldehyde-binding protein | |
| cellular retinaldehyde-binding protein-1 | |
| 3110056M11Rik | |
| RLBP1 | |
| RLBP I | |
| Retinaldehyde-binding protein-1 (cellular) | |
| retinaldehyde binding protein I | |
| retinaldehyde binding protein 1 | |
| Newfoundland rod-cone dystrophy, included | |
| 3110056M11Rik(2) | |
| 3110056M11 | |
| MGC3663 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 180090 |
|---|---|
| 607475 | |
| 607476 | |
| 136880 | |
| 268000 |
| Unigene ID | Hs.1933 |
|---|---|
| Mm.41653 | |
| Rn.41007 |
| KEGG ID | hsa:6017 |
|---|---|
| mmu:19771 | |
| rno:293049 |
| Swiss-Prot Accession | P12271 |
|---|---|
| Q544Y3 | |
| Q9Z275 | |
| D3Z956 | |
| B2R667 |
| GO ID | 0005502 |
|---|---|
| 0019841 | |
| 0005215 | |
| 0050896 | |
| 0007601 | |
| 0006776 | |
| 0005737 | |
| 0006810 | |
| 0044297 | |
| 0005622 | |
| 0005625 |
| PIR ID | B31955 |
|---|
| Swiss-Prot ID | RLBP1_HUMAN |
|---|---|
| RLBP1_MOUSE | |
| Q544Y3_MOUSE | |
| B2R667_HUMAN |
| Cell Localization | Cytoplasm |
|---|
| IPI ID | IPI00218633 |
|---|---|
| IPI00226080 | |
| IPI00874161 | |
| IPI00798306 | |
| IPI00364357 |
| Mouse chromosome position | 7 39.0 cM |
|---|
| Rat chromosome position | 1q31 |
|---|
| Homologene ID | 68046 |
|---|
| MGI ID | 97930 |
|---|
| RGD ID | 1309649 |
|---|