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Identification
HMDB Protein ID HMDBP01797
Secondary Accession Numbers
  • 7155
Name Retinoid isomerohydrolase
Synonyms
  1. All-trans-retinyl-palmitate hydrolase
  2. Retinal pigment epithelium-specific 65 kDa protein
  3. 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.
Pathways
  • Retinol metabolism
  • Retinol Metabolism
  • Vitamin A Deficiency
Reactions
An all-trans-retinyl ester + Water → 11-cis-Retinol + a fatty acid details
Retinyl ester + Water → 11-cis-Retinol + Fatty acid details
GO Classification
Biological Process
visual perception
vitamin A metabolic process
response to stimulus
Cellular Component
endoplasmic reticulum
plasma membrane
organelle 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
  1. Cell membrane
  2. Lipid-anchor
  3. Cytoplasm
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
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
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