| Identification |
|---|
| HMDB Protein ID
| CDBP01613 |
| Secondary Accession Numbers
| Not Available |
| Name
| Retinoid isomerohydrolase |
| Description
| Not Available |
| Synonyms
|
- All-trans-retinyl-palmitate hydrolase
- Retinal pigment epithelium-specific 65 kDa protein
- Retinol isomerase
|
| Gene Name
| RPE65 |
| Protein Type
| Enzyme |
| Biological Properties |
|---|
| General Function
| Secondary metabolites biosynthesis, transport and catabolism |
| Specific Function
| Plays important roles in the production of 11-cis retinal and in visual pigment regeneration. The soluble form binds vitamin A (all-trans-retinol), making it available for LRAT processing to all-trans-retinyl ester. The membrane form, palmitoylated by LRAT, binds all-trans-retinyl esters, making them available for IMH (isomerohydrolase) processing to all-cis-retinol. The soluble form is regenerated by transferring its palmitoyl groups onto 11-cis-retinol, a reaction catalyzed by LRAT. The enzymatic activity is linearly dependent of the expression levels and membrane association.
|
| GO Classification
|
| Biological Process |
| visual perception |
| vitamin A metabolic process |
| response to stimulus |
| Cellular Component |
| organelle membrane |
| endoplasmic reticulum |
| plasma membrane |
| Molecular Function |
| all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity |
| all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity |
| metal ion binding |
| isomerase activity |
|
| Cellular Location
|
- Cell membrane
- Lipid-anchor
- Cytoplasm
|
| Pathways
|
| Name | SMPDB/Pathwhiz | KEGG | | Retinol Metabolism |    |  | | Vitamin A Deficiency |    | Not Available |
|
| Gene Properties |
|---|
| Chromosome Location
| 1 |
| Locus
| 1p31 |
| SNPs
| RPE65 |
| Gene Sequence
|
>1602 bp
ATGTCTATCCAGGTTGAGCATCCTGCTGGTGGTTACAAGAAACTGTTTGAAACTGTGGAG
GAACTGTCCTCGCCGCTCACAGCTCATGTAACAGGCAGGATCCCCCTCTGGCTCACCGGC
AGTCTCCTTCGATGTGGGCCAGGACTCTTTGAAGTTGGATCTGAGCCATTTTACCACCTG
TTTGATGGGCAAGCCCTCCTGCACAAGTTTGACTTTAAAGAAGGACATGTCACATACCAC
AGAAGGTTCATCCGCACTGATGCTTACGTACGGGCAATGACTGAGAAAAGGATCGTCATA
ACAGAATTTGGCACCTGTGCTTTCCCAGATCCCTGCAAGAATATATTTTCCAGGTTTTTT
TCTTACTTTCGAGGAGTAGAGGTTACTGACAATGCCCTTGTTAATGTCTACCCAGTGGGG
GAAGATTACTACGCTTGCACAGAGACCAACTTTATTACAAAGATTAATCCAGAGACCTTG
GAGACAATTAAGCAGGTTGATCTTTGCAACTATGTCTCTGTCAATGGGGCCACTGCTCAC
CCCCACATTGAAAATGATGGAACCGTTTACAATATTGGTAATTGCTTTGGAAAAAATTTT
TCAATTGCCTACAACATTGTAAAGATCCCACCACTGCAAGCAGACAAGGAAGATCCAATA
AGCAAGTCAGAGATCGTTGTACAATTCCCCTGCAGTGACCGATTCAAGCCATCTTACGTT
CATAGTTTTGGTCTGACTCCCAACTATATCGTTTTTGTGGAGACACCAGTCAAAATTAAC
CTGTTCAAGTTCCTTTCTTCATGGAGTCTTTGGGGAGCCAACTACATGGATTGTTTTGAG
TCCAATGAAACCATGGGGGTTTGGCTTCATATTGCTGACAAAAAAAGGAAAAAGTACCTC
AATAATAAATACAGAACTTCTCCTTTCAACCTCTTCCATCACATCAACACCTATGAAGAC
AATGGGTTTCTGATTGTGGATCTCTGCTGCTGGAAAGGATTTGAGTTTGTTTATAATTAC
TTATATTTAGCCAATTTACGTGAGAACTGGGAAGAGGTGAAAAAAAATGCCAGAAAGGCT
CCCCAACCTGAAGTTAGGAGATATGTACTTCCTTTGAATATTGACAAGGCTGACACAGGC
AAGAATTTAGTCACGCTCCCCAATACAACTGCCACTGCAATTCTGTGCAGTGACGAGACT
ATCTGGCTGGAGCCTGAAGTTCTCTTTTCAGGGCCTCGTCAAGCATTTGAGTTTCCTCAA
ATCAATTACCAGAAGTATTGTGGGAAACCTTACACATATGCGTATGGACTTGGCTTGAAT
CACTTTGTTCCAGATAGGCTCTGTAAGCTGAATGTCAAAACTAAAGAAACTTGGGTTTGG
CAAGAGCCTGATTCATACCCATCAGAACCCATCTTTGTTTCTCACCCAGATGCCTTGGAA
GAAGATGATGGTGTAGTTCTGAGTGTGGTGGTGAGCCCAGGAGCAGGACAAAAGCCTGCT
TATCTCCTGATTCTGAATGCCAAGGACTTAAGTGAAGTTGCCCGGGCTGAAGTGGAGATT
AACATCCCTGTCACCTTTCATGGACTGTTCAAAAAATCTTGA
|
| Protein Properties |
|---|
| Number of Residues
| 533 |
| Molecular Weight
| 60947.08 |
| Theoretical pI
| 6.481 |
| Pfam Domain Function
|
|
| Signals
|
Not Available
|
|
Transmembrane Regions
|
Not Available
|
| Protein Sequence
|
>Retinoid isomerohydrolase
MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHL
FDGQALLHKFDFKEGHVTYHRRFIRTDAYVRAMTEKRIVITEFGTCAFPDPCKNIFSRFF
SYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETLETIKQVDLCNYVSVNGATAH
PHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYV
HSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYL
NNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKGFEFVYNYLYLANLRENWEEVKKNARKA
PQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGPRQAFEFPQ
INYQKYCGKPYTYAYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALE
EDDGVVLSVVVSPGAGQKPAYLLILNAKDLSEVARAEVEINIPVTFHGLFKKS
|
| External Links |
|---|
| GenBank ID Protein
| 675458 |
| UniProtKB/Swiss-Prot ID
| Q16518 |
| UniProtKB/Swiss-Prot Entry Name
| RPE65_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| U18991 |
| GeneCard ID
| RPE65 |
| GenAtlas ID
| RPE65 |
| HGNC ID
| HGNC:10294 |
| References |
|---|
| General References
| Not Available |