Gene/Proteome Database (LMPD)
LMPD ID
LMP001843
Gene ID
Species
Homo sapiens (Human)
Gene Name
retinaldehyde binding protein 1
Gene Symbol
Synonyms
CRALBP
Alternate Names
retinaldehyde-binding protein 1; cellular retinaldehyde-binding protein; cellular retinaldehyde-binding protein-1
Chromosome
15
Map Location
15q26
Summary
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, Jul 2008]
Orthologs
Proteins
| retinaldehyde-binding protein 1 | |
|---|---|
| Refseq ID | NP_000317 |
| Protein GI | 4506541 |
| UniProt ID | P12271 |
| mRNA ID | NM_000326 |
| Length | 317 |
| RefSeq Status | REVIEWED |
| MSEGVGTFRMVPEEEQELRAQLEQLTTKDHGPVFGPCSQLPRHTLQKAKDELNEREETREEAVRELQEMVQAQAASGEELAVAVAERVQEKDSGFFLRFIRARKFNVGRAYELLRGYVNFRLQYPELFDSLSPEAVRCTIEAGYPGVLSSRDKYGRVVMLFNIENWQSQEITFDEILQAYCFILEKLLENEETQINGFCIIENFKGFTMQQAASLRTSDLRKMVDMLQDSFPARFKAIHFIHQPWYFTTTYNVVKPFLKSKLLERVFVHGDDLSGFYQEIDENILPSDFGGTLPKYDGKAVAEQLFGPQAQAENTAF | |
Gene Information
Entrez Gene ID
Gene Name
retinaldehyde binding protein 1
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0044297 | IEA:Ensembl | C | cell body |
| GO:0005829 | TAS:Reactome | C | cytosol |
| GO:0005502 | IEA:Ensembl | F | 11-cis retinal binding |
| GO:0019841 | IEA:UniProtKB-KW | F | retinol binding |
| GO:0005215 | IEA:InterPro | F | transporter activity |
| GO:0007603 | TAS:Reactome | P | phototransduction, visible light |
| GO:0001523 | TAS:Reactome | P | retinoid metabolic process |
| GO:0007601 | TAS:ProtInc | P | visual perception |
| GO:0006776 | TAS:ProtInc | P | vitamin A metabolic process |
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_160156 | The canonical retinoid cycle in rods (twilight vision) |
| REACT_160083 | The retinoid cycle in cones (daylight vision) |
Domain Information
UniProt Annotations
Entry Information
Comments
| Comment Type | Description |
|---|---|
| Disease | Bothnia retinal dystrophy (BRD) [MIM |
| Disease | Retinitis pigmentosa autosomal recessive (ARRP) [MIM |
| Disease | Retinitis punctata albescens (RPA) [MIM |
| Disease | Rod-cone dystrophy Newfoundland (NFRCD) [MIM |
| Function | Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the 'visual cycle'. |
| Similarity | Contains 1 CRAL-TRIO domain. {ECO |
| Subcellular Location | Cytoplasm. |
| Tissue Specificity | Retina and pineal gland. Not present in photoreceptor cells but is expressed abundantly in the adjacent retinal pigment epithelium (RPE) and in the Mueller glial cells of the retina. |
| Web Resource | Name=Mutations of the RLBP1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/cralbp.htm"; |
Identical and Related Proteins
Unique RefSeq proteins for LMP001843 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 4506541 | RefSeq | NP_000317 | 317 | retinaldehyde-binding protein 1 |
Identical Sequences to LMP001843 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:4506541 | DBBJ | BAG35364.1 | 317 | unnamed protein product [Homo sapiens] |
| GI:4506541 | GenBank | ABZ11130.1 | 317 | Sequence 98 from patent US 7309487 |
| GI:4506541 | GenBank | ACM80429.1 | 317 | Sequence 5927 from patent US 6812339 |
| GI:4506541 | GenBank | AFK97747.1 | 317 | Sequence 98 from patent US 8158600 |
| GI:4506541 | GenBank | AIC49594.1 | 317 | RLBP1, partial [synthetic construct] |
| GI:4506541 | PDB | 4CIZ | 317 | Chain A, Crystal Structure Of The Complex Of The Cellular Retinal Binding Protein With 9-cis-retinal |
Related Sequences to LMP001843 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:4506541 | GenBank | ACM84149.1 | 344 | Sequence 9647 from patent US 6812339 |
| GI:4506541 | PDB | 3HY5 | 316 | Chain A, Crystal Structure Of Cralbp |
| GI:4506541 | RefSeq | XP_001166281.2 | 317 | PREDICTED: retinaldehyde-binding protein 1 isoform X1 [Pan troglodytes] |
| GI:4506541 | RefSeq | XP_008972121.1 | 317 | PREDICTED: retinaldehyde-binding protein 1 [Pan paniscus] |
| GI:4506541 | RefSeq | XP_009428069.1 | 317 | PREDICTED: retinaldehyde-binding protein 1 isoform X1 [Pan troglodytes] |
| GI:4506541 | RefSeq | XP_009428070.1 | 317 | PREDICTED: retinaldehyde-binding protein 1 isoform X1 [Pan troglodytes] |