Q16518 · RPE65_HUMAN
- ProteinRetinoid isomerohydrolase
- GeneRPE65
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids533 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins. Catalyzes the cleavage and isomerization of all-trans-retinyl fatty acid esters to 11-cis-retinol which is further oxidized by 11-cis retinol dehydrogenase to 11-cis-retinal for use as visual chromophore (PubMed:16116091).
Essential for the production of 11-cis retinal for both rod and cone photoreceptors (PubMed:17848510).
Also capable of catalyzing the isomerization of lutein to meso-zeaxanthin an eye-specific carotenoid (PubMed:28874556).
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 (By similarity).
Essential for the production of 11-cis retinal for both rod and cone photoreceptors (PubMed:17848510).
Also capable of catalyzing the isomerization of lutein to meso-zeaxanthin an eye-specific carotenoid (PubMed:28874556).
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 (By similarity).
Catalytic activity
- an all-trans-retinyl ester + H2O = 11-cis-retinol + a fatty acid + H+
Cofactor
Note: Binds 1 Fe2+ ion per subunit.
Kinetics
KM | SUBSTRATE | pH | TEMPERATURE[C] | NOTES | EVIDENCE | |
---|---|---|---|---|---|---|
0.35 μM | all-trans-retinyl palmitate |
Vmax | pH | TEMPERATURE[C] | NOTES | EVIDENCE | |
---|---|---|---|---|---|
21 pmol/min/mg | for all-trans-retinyl palmitate as substrate |
Features
Showing features for binding site.
GO annotations
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Chemistry
Names & Taxonomy
Protein names
- Recommended nameRetinoid isomerohydrolase
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ16518
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Cell membrane ; Lipid-anchor
Note: Attached to the membrane by a lipid anchor when palmitoylated (membrane form), soluble when unpalmitoylated. Undergoes light-dependent intracellular transport to become more concentrated in the central region of the retina pigment epithelium cells.
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Leber congenital amaurosis 2 (LCA2)
- Note
- DescriptionA severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
- See alsoMIM:204100
Natural variants in LCA2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_017126 | 22 | L>P | in LCA2; dbSNP:rs61751277 | |
VAR_060808 | 36-38 | missing | in LCA2 | |
VAR_081684 | 40 | G>D | in LCA2 | |
VAR_017127 | 40 | G>S | in LCA2; reduced protein levels; decreased function in the retinoid cycle; dbSNP:rs61751281 | |
VAR_017128 | 44 | R>Q | in LCA2; severely decreased retinol isomerase activity; dbSNP:rs61751282 | |
VAR_070172 | 67 | L>R | in LCA2; dbSNP:rs1344724754 | |
VAR_017129 | 68 | H>Y | in LCA2; dbSNP:rs61752866 | |
VAR_067160 | 70 | F>V | in LCA2 and RP20; dbSNP:rs1645945392 | |
VAR_067161 | 91 | R>P | in LCA2; dbSNP:rs61752873 | |
VAR_017131 | 91 | R>Q | in LCA2; severely decreased retinol isomerase activity; dbSNP:rs61752873 | |
VAR_017130 | 91 | R>W | in RP20 and LCA2; reduced protein levels; decreased function in the retinoid cycle; dbSNP:rs61752871 | |
VAR_067162 | 99 | V>I | in LCA2; likely benign; dbSNP:rs143056561 | |
VAR_083292 | 101 | T>I | in LCA2; severely decreased retinol isomerase activity; dbSNP:rs1444234037 | |
VAR_060812 | 102 | E>K | in RP20 and LCA2; dbSNP:rs62642584 | |
VAR_083293 | 118 | R>S | in LCA2; uncertain significance; dbSNP:rs61752876 | |
VAR_017133 | 144 | Y>D | in LCA2; dbSNP:rs61752880 | |
VAR_060813 | 148 | E>D | in LCA2; dbSNP:rs61752882 | |
VAR_083294 | 162 | T>P | in LCA2; uncertain significance; dbSNP:rs774309607 | |
VAR_060814 | 167 | D>Y | in RP20 and LCA2; dbSNP:rs61752883 | |
VAR_060815 | 182 | H>N | in LCA2; dbSNP:rs61752884 | |
VAR_017134 | 182 | H>Y | in LCA2; dbSNP:rs61752884 | |
VAR_080043 | 234-533 | missing | in LCA2 | |
VAR_060816 | 239 | Y>D | in LCA2 and RP20; severely decreased retinol isomerase activity; dbSNP:rs61752896 | |
VAR_017135 | 287 | V>F | in LCA2; dbSNP:rs281865289 | |
VAR_067163 | 313 | H>R | in LCA2; dbSNP:rs1375943362 | |
VAR_083295 | 318 | Y>N | in LCA2; severely decreased retinol isomerase activity; dbSNP:rs61752905 | |
VAR_060818 | 330 | C>Y | in LCA2; dbSNP:rs61752908 | |
VAR_067164 | 333 | G>R | in LCA2; dbSNP:rs1459522532 | |
VAR_017138 | 363 | P>T | in LCA2; dbSNP:rs121917744 | |
VAR_070173 | 368 | Y>C | in LCA2; dbSNP:rs62653012 | |
VAR_060819 | 393 | A>E | in LCA2; dbSNP:rs62635773 | |
VAR_017140 | 393 | A>G | in LCA2; dbSNP:rs62635773 | |
VAR_083296 | 402-533 | missing | in LCA2 | |
VAR_083297 | 408 | L>P | in LCA2; severely decreased retinol isomerase activity; dbSNP:rs62636298 | |
VAR_017141 | 417 | E>Q | in LCA2; dbSNP:rs62636299 | |
VAR_018151 | 431 | Y>C | in LCA2; dbSNP:rs62636300 | |
VAR_034477 | 434 | A>V | in LCA2; benign; no effect on retinol isomerase activity; dbSNP:rs34627040 | |
VAR_060820 | 435 | Y>C | in LCA2; dbSNP:rs62636302 | |
VAR_083298 | 443 | V>A | in LCA2; likely pathogenic; dbSNP:rs1645824187 | |
VAR_083299 | 460-533 | missing | in LCA2 | |
VAR_060822 | 470 | P>L | in LCA2; dbSNP:rs774211361 | |
VAR_083300 | 533 | S>T | in LCA2; uncertain significance; dbSNP:rs577335767 |
Retinitis pigmentosa 20 (RP20)
- Note
- DescriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
- See alsoMIM:613794
Natural variants in RP20
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_071672 | 60 | L>P | in RP20; dbSNP:rs1266217912 | |
VAR_067160 | 70 | F>V | in LCA2 and RP20; dbSNP:rs1645945392 | |
VAR_060809 | 79 | Y>H | in RP20; dbSNP:rs61752869 | |
VAR_060810 | 85 | R>H | in RP20; uncertain significance; dbSNP:rs61752870 | |
VAR_017130 | 91 | R>W | in RP20 and LCA2; reduced protein levels; decreased function in the retinoid cycle; dbSNP:rs61752871 | |
VAR_060811 | 95 | E>Q | in RP20; dbSNP:rs61752874 | |
VAR_060812 | 102 | E>K | in RP20 and LCA2; dbSNP:rs62642584 | |
VAR_017132 | 132 | A>T | in RP20; benign; dbSNP:rs61752878 | |
VAR_060814 | 167 | D>Y | in RP20 and LCA2; dbSNP:rs61752883 | |
VAR_060816 | 239 | Y>D | in LCA2 and RP20; severely decreased retinol isomerase activity; dbSNP:rs61752896 | |
VAR_060817 | 294 | K>T | in RP20; likely benign; very mild decrease of retinol isomerase activity; dbSNP:rs61752901 | |
VAR_017137 | 341 | L>S | in RP20; dbSNP:rs61752909 | |
VAR_017139 | 368 | Y>H | in RP20; dbSNP:rs62653011 | |
VAR_060821 | 436 | G>V | in RP20; dbSNP:rs62637002 | |
VAR_017142 | 452 | V>G | in RP20; dbSNP:rs62637004 | |
VAR_060823 | 473 | V>D | in RP20; dbSNP:rs62637007 | |
VAR_037619 | 515 | R>W | in RP20; dbSNP:rs121917745 | |
VAR_060824 | 528 | G>V | in RP20; dbSNP:rs1193631220 |
Retinitis pigmentosa 87 with choroidal involvement (RP87)
- Note
- DescriptionA form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP87 is an autosomal dominant form characterized by a slowly progressive visual disturbance accompanied by extensive choroid/retinal atrophy that mimics certain aspects of choroideremia. Disease severity and age of onset are variable, and some carriers are unaffected.
- See alsoMIM:618697
Natural variants in RP87
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_067757 | 477 | D>G | in RP87; uncertain significance; does not affect protein abundance; does not affect subcellular localization; does not affect isomerization activity; may cause abnormal splicing mRNAs thereby decreasing protein levels; dbSNP:rs1571158279 |
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_017126 | 22 | in LCA2; dbSNP:rs61751277 | |||
Sequence: L → P | ||||||
Natural variant | VAR_060808 | 36-38 | in LCA2 | |||
Sequence: Missing | ||||||
Mutagenesis | 39 | Does not affect isomerohydrolase activity. | ||||
Sequence: T → R | ||||||
Natural variant | VAR_081684 | 40 | in LCA2 | |||
Sequence: G → D | ||||||
Natural variant | VAR_017127 | 40 | in LCA2; reduced protein levels; decreased function in the retinoid cycle; dbSNP:rs61751281 | |||
Sequence: G → S | ||||||
Natural variant | VAR_017128 | 44 | in LCA2; severely decreased retinol isomerase activity; dbSNP:rs61751282 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_071672 | 60 | in RP20; dbSNP:rs1266217912 | |||
Sequence: L → P | ||||||
Natural variant | VAR_070172 | 67 | in LCA2; dbSNP:rs1344724754 | |||
Sequence: L → R | ||||||
Natural variant | VAR_017129 | 68 | in LCA2; dbSNP:rs61752866 | |||
Sequence: H → Y | ||||||
Natural variant | VAR_067160 | 70 | in LCA2 and RP20; dbSNP:rs1645945392 | |||
Sequence: F → V | ||||||
Natural variant | VAR_060809 | 79 | in RP20; dbSNP:rs61752869 | |||
Sequence: Y → H | ||||||
Natural variant | VAR_060810 | 85 | in RP20; uncertain significance; dbSNP:rs61752870 | |||
Sequence: R → H | ||||||
Natural variant | VAR_067161 | 91 | in LCA2; dbSNP:rs61752873 | |||
Sequence: R → P | ||||||
Natural variant | VAR_017131 | 91 | in LCA2; severely decreased retinol isomerase activity; dbSNP:rs61752873 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_017130 | 91 | in RP20 and LCA2; reduced protein levels; decreased function in the retinoid cycle; dbSNP:rs61752871 | |||
Sequence: R → W | ||||||
Natural variant | VAR_060811 | 95 | in RP20; dbSNP:rs61752874 | |||
Sequence: E → Q | ||||||
Natural variant | VAR_067162 | 99 | in LCA2; likely benign; dbSNP:rs143056561 | |||
Sequence: V → I | ||||||
Natural variant | VAR_083292 | 101 | in LCA2; severely decreased retinol isomerase activity; dbSNP:rs1444234037 | |||
Sequence: T → I | ||||||
Natural variant | VAR_060812 | 102 | in RP20 and LCA2; dbSNP:rs62642584 | |||
Sequence: E → K | ||||||
Mutagenesis | 106 | No loss of enzymatic activity. No effect on palmitoylation. No loss of membrane association. | ||||
Sequence: C → A | ||||||
Mutagenesis | 106 | Does not affect isomerohydrolase activity. | ||||
Sequence: C → Y | ||||||
Mutagenesis | 112 | Loss of enzymatic activity. No palmitoylation. Loss of membrane association. | ||||
Sequence: C → A | ||||||
Natural variant | VAR_083293 | 118 | in LCA2; uncertain significance; dbSNP:rs61752876 | |||
Sequence: R → S | ||||||
Natural variant | VAR_017132 | 132 | in RP20; benign; dbSNP:rs61752878 | |||
Sequence: A → T | ||||||
Natural variant | VAR_017133 | 144 | in LCA2; dbSNP:rs61752880 | |||
Sequence: Y → D | ||||||
Natural variant | VAR_060813 | 148 | in LCA2; dbSNP:rs61752882 | |||
Sequence: E → D | ||||||
Natural variant | VAR_083294 | 162 | in LCA2; uncertain significance; dbSNP:rs774309607 | |||
Sequence: T → P | ||||||
Natural variant | VAR_060814 | 167 | in RP20 and LCA2; dbSNP:rs61752883 | |||
Sequence: D → Y | ||||||
Mutagenesis | 170 | Increased isomerohydrolase activity. | ||||
Sequence: N → K | ||||||
Mutagenesis | 180 | Loss of enzymatic activity. | ||||
Sequence: H → A | ||||||
Natural variant | VAR_060815 | 182 | in LCA2; dbSNP:rs61752884 | |||
Sequence: H → N | ||||||
Natural variant | VAR_017134 | 182 | in LCA2; dbSNP:rs61752884 | |||
Sequence: H → Y | ||||||
Natural variant | VAR_080043 | 234-533 | in LCA2 | |||
Sequence: Missing | ||||||
Natural variant | VAR_060816 | 239 | in LCA2 and RP20; severely decreased retinol isomerase activity; dbSNP:rs61752896 | |||
Sequence: Y → D | ||||||
Mutagenesis | 241 | Decreasing protein levels. Loss of enzymatic activity. Significantly decreased protein stability. | ||||
Sequence: H → A | ||||||
Natural variant | VAR_017135 | 287 | in LCA2; dbSNP:rs281865289 | |||
Sequence: V → F | ||||||
Natural variant | VAR_060817 | 294 | in RP20; likely benign; very mild decrease of retinol isomerase activity; dbSNP:rs61752901 | |||
Sequence: K → T | ||||||
Mutagenesis | 297 | Increased isomerohydrolase activity. | ||||
Sequence: K → G | ||||||
Natural variant | VAR_067163 | 313 | in LCA2; dbSNP:rs1375943362 | |||
Sequence: H → R | ||||||
Mutagenesis | 313 | Decreasing protein levels. Loss of enzymatic activity. Significantly decreased protein stability. | ||||
Sequence: H → A | ||||||
Natural variant | VAR_083295 | 318 | in LCA2; severely decreased retinol isomerase activity; dbSNP:rs61752905 | |||
Sequence: Y → N | ||||||
Natural variant | VAR_017136 | 321 | no effect on retinol isomerase activity; dbSNP:rs149916178 | |||
Sequence: N → K | ||||||
Natural variant | VAR_060818 | 330 | in LCA2; dbSNP:rs61752908 | |||
Sequence: C → Y | ||||||
Mutagenesis | 330 | Does not affect isomerohydrolase activity. | ||||
Sequence: C → T | ||||||
Natural variant | VAR_067164 | 333 | in LCA2; dbSNP:rs1459522532 | |||
Sequence: G → R | ||||||
Natural variant | VAR_017137 | 341 | in RP20; dbSNP:rs61752909 | |||
Sequence: L → S | ||||||
Natural variant | VAR_017138 | 363 | in LCA2; dbSNP:rs121917744 | |||
Sequence: P → T | ||||||
Natural variant | VAR_070173 | 368 | in LCA2; dbSNP:rs62653012 | |||
Sequence: Y → C | ||||||
Natural variant | VAR_017139 | 368 | in RP20; dbSNP:rs62653011 | |||
Sequence: Y → H | ||||||
Natural variant | VAR_060819 | 393 | in LCA2; dbSNP:rs62635773 | |||
Sequence: A → E | ||||||
Natural variant | VAR_017140 | 393 | in LCA2; dbSNP:rs62635773 | |||
Sequence: A → G | ||||||
Natural variant | VAR_083296 | 402-533 | in LCA2 | |||
Sequence: Missing | ||||||
Natural variant | VAR_083297 | 408 | in LCA2; severely decreased retinol isomerase activity; dbSNP:rs62636298 | |||
Sequence: L → P | ||||||
Natural variant | VAR_017141 | 417 | in LCA2; dbSNP:rs62636299 | |||
Sequence: E → Q | ||||||
Natural variant | VAR_018151 | 431 | in LCA2; dbSNP:rs62636300 | |||
Sequence: Y → C | ||||||
Natural variant | VAR_034477 | 434 | in LCA2; benign; no effect on retinol isomerase activity; dbSNP:rs34627040 | |||
Sequence: A → V | ||||||
Natural variant | VAR_060820 | 435 | in LCA2; dbSNP:rs62636302 | |||
Sequence: Y → C | ||||||
Natural variant | VAR_060821 | 436 | in RP20; dbSNP:rs62637002 | |||
Sequence: G → V | ||||||
Natural variant | VAR_083298 | 443 | in LCA2; likely pathogenic; dbSNP:rs1645824187 | |||
Sequence: V → A | ||||||
Natural variant | VAR_017142 | 452 | in RP20; dbSNP:rs62637004 | |||
Sequence: V → G | ||||||
Natural variant | VAR_083299 | 460-533 | in LCA2 | |||
Sequence: Missing | ||||||
Mutagenesis | 469 | Decreasing protein levels. Loss of enzymatic activity. | ||||
Sequence: E → A | ||||||
Mutagenesis | 469 | Decreasing protein levels. Loss of enzymatic activity. | ||||
Sequence: E → Q | ||||||
Natural variant | VAR_060822 | 470 | in LCA2; dbSNP:rs774211361 | |||
Sequence: P → L | ||||||
Natural variant | VAR_060823 | 473 | in RP20; dbSNP:rs62637007 | |||
Sequence: V → D | ||||||
Natural variant | VAR_067757 | 477 | in RP87; uncertain significance; does not affect protein abundance; does not affect subcellular localization; does not affect isomerization activity; may cause abnormal splicing mRNAs thereby decreasing protein levels; dbSNP:rs1571158279 | |||
Sequence: D → G | ||||||
Mutagenesis | 497 | Does not affect isomerohydrolase activity. | ||||
Sequence: Q → P | ||||||
Mutagenesis | 510 | Does not affect isomerohydrolase activity. | ||||
Sequence: L → M | ||||||
Natural variant | VAR_037619 | 515 | in RP20; dbSNP:rs121917745 | |||
Sequence: R → W | ||||||
Mutagenesis | 527 | Decreasing protein levels. Loss of enzymatic activity. Significantly decreased protein stability. | ||||
Sequence: H → A | ||||||
Natural variant | VAR_060824 | 528 | in RP20; dbSNP:rs1193631220 | |||
Sequence: G → V | ||||||
Natural variant | VAR_083300 | 533 | in LCA2; uncertain significance; dbSNP:rs577335767 | |||
Sequence: S → T | ||||||
Mutagenesis | 533 | Does not affect isomerohydrolase activity. | ||||
Sequence: S → A |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 824 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for initiator methionine, modified residue, chain, lipidation.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Initiator methionine | 1 | Removed | ||||
Sequence: M | ||||||
Modified residue | 2 | N-acetylserine | ||||
Sequence: S | ||||||
Chain | PRO_0000143943 | 2-533 | Retinoid isomerohydrolase | |||
Sequence: SIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHLFDGQALLHKFDFKEGHVTYHRRFIRTDAYVRAMTEKRIVITEFGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETLETIKQVDLCNYVSVNGATAHPHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYVHSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKGFEFVYNYLYLANLRENWEEVKKNARKAPQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGPRQAFEFPQINYQKYCGKPYTYAYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSVVVSPGAGQKPAYLLILNAKDLSEVARAEVEINIPVTFHGLFKKS | ||||||
Modified residue | 101 | Phosphothreonine | ||||
Sequence: T | ||||||
Modified residue | 105 | Phosphothreonine | ||||
Sequence: T | ||||||
Lipidation | 112 | S-palmitoyl cysteine; in membrane form | ||||
Sequence: C | ||||||
Modified residue | 113 | N6-acetyllysine | ||||
Sequence: K | ||||||
Modified residue | 117 | Phosphoserine | ||||
Sequence: S | ||||||
Lipidation | 231 | S-palmitoyl cysteine; in membrane form | ||||
Sequence: C | ||||||
Lipidation | 329 | S-palmitoyl cysteine; in membrane form | ||||
Sequence: C | ||||||
Lipidation | 330 | S-palmitoyl cysteine; in membrane form | ||||
Sequence: C |
Post-translational modification
Palmitoylation by LRAT regulates ligand binding specificity; the palmitoylated form (membrane form) specifically binds all-trans-retinyl-palmitate, while the soluble unpalmitoylated form binds all-trans-retinol (vitamin A) (By similarity).
Keywords
- PTM
Proteomic databases
PTM databases
Interaction
Subunit
Interacts with MYO7A; this mediates light-dependent intracellular transport of RPE65.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q16518 | CCT6B Q92526 | 3 | EBI-11682559, EBI-2479962 |
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Sequence
- Sequence statusComplete
- Length533
- Mass (Da)60,948
- Last updated2007-01-23 v3
- Checksum7193C93F3325798D
Computationally mapped potential isoform sequences
There are 4 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0AAQ5BH46 | A0AAQ5BH46_HUMAN | RPE65 | 412 | ||
A0AAQ5BH58 | A0AAQ5BH58_HUMAN | RPE65 | 86 | ||
A0AAQ5BH81 | A0AAQ5BH81_HUMAN | RPE65 | 217 | ||
A0AAQ5BH62 | A0AAQ5BH62_HUMAN | RPE65 | 42 |
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 254 | in Ref. 3; BAF82614 | ||||
Sequence: E → G | ||||||
Sequence conflict | 274 | in Ref. 3; BAF82614 | ||||
Sequence: N → D |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
U18991 EMBL· GenBank· DDBJ | AAA99012.1 EMBL· GenBank· DDBJ | mRNA | ||
U20510 EMBL· GenBank· DDBJ | AAC14586.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
U20476 EMBL· GenBank· DDBJ | AAC14586.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
U20477 EMBL· GenBank· DDBJ | AAC14586.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
U20478 EMBL· GenBank· DDBJ | AAC14586.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
U20479 EMBL· GenBank· DDBJ | AAC14586.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
U20481 EMBL· GenBank· DDBJ | AAC14586.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
U20482 EMBL· GenBank· DDBJ | AAC14586.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
U20484 EMBL· GenBank· DDBJ | AAC14586.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
U20485 EMBL· GenBank· DDBJ | AAC14586.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
U20486 EMBL· GenBank· DDBJ | AAC14586.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF039868 EMBL· GenBank· DDBJ | AAC39660.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF039855 EMBL· GenBank· DDBJ | AAC39660.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF039856 EMBL· GenBank· DDBJ | AAC39660.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF039857 EMBL· GenBank· DDBJ | AAC39660.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF039858 EMBL· GenBank· DDBJ | AAC39660.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF039859 EMBL· GenBank· DDBJ | AAC39660.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF039860 EMBL· GenBank· DDBJ | AAC39660.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF039861 EMBL· GenBank· DDBJ | AAC39660.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF039862 EMBL· GenBank· DDBJ | AAC39660.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF039863 EMBL· GenBank· DDBJ | AAC39660.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF039864 EMBL· GenBank· DDBJ | AAC39660.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF039865 EMBL· GenBank· DDBJ | AAC39660.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF039866 EMBL· GenBank· DDBJ | AAC39660.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF039867 EMBL· GenBank· DDBJ | AAC39660.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AK289925 EMBL· GenBank· DDBJ | BAF82614.1 EMBL· GenBank· DDBJ | mRNA | ||
AL139413 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471059 EMBL· GenBank· DDBJ | EAX06478.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC075035 EMBL· GenBank· DDBJ | AAH75035.1 EMBL· GenBank· DDBJ | mRNA | ||
BC075036 EMBL· GenBank· DDBJ | AAH75036.1 EMBL· GenBank· DDBJ | mRNA |