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Details on Person UniProt:Q96NR8 RDH12
| Class:Id | ReferenceGeneProduct:99772 |
|---|---|
| _chainChangeLog | chain:1-316 added on Fri February 6 2015 |
| _displayName | UniProt:Q96NR8 RDH12 |
| _timestamp | 2025-02-21 19:53:12 |
| chain | chain:1-316 |
| checksum | EA0915E1E484879B |
| comment | FUNCTION Retinoids dehydrogenase/reductase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinal. Shows very weak activity towards 13-cis-retinol (PubMed:12226107, PubMed:15865448). Also exhibits activity, albeit with lower affinity than for retinaldehydes, towards lipid peroxidation products (C9 aldehydes) such as 4-hydroxynonenal and trans-2-nonenal (PubMed:15865448, PubMed:19686838). May play an important function in photoreceptor cells to detoxify 4-hydroxynonenal and potentially other toxic aldehyde products resulting from lipid peroxidation (PubMed:19686838). Has no dehydrogenase activity towards steroids (PubMed:12226107, PubMed:15865448).CATALYTIC ACTIVITY all-trans-retinol + NADP(+) = all-trans-retinal + NADPH + H(+)CATALYTIC ACTIVITY 11-cis-retinol + NADP(+) = 11-cis-retinal + NADPH + H(+)CATALYTIC ACTIVITY 9-cis-retinol + NADP(+) = 9-cis-retinal + NADPH + H(+)CATALYTIC ACTIVITY a 4-hydroxynonen-1-ol + NADP(+) = a 4-hydroxynonenal + NADPH + H(+)CATALYTIC ACTIVITY (E)-non-2-en-1-ol + NADP(+) = (E)-non-2-enal + NADPH + H(+)CATALYTIC ACTIVITY (Z)-non-6-en-1-ol + NADP(+) = (Z)-non-6-enal + NADPH + H(+)CATALYTIC ACTIVITY nonan-1-ol + NADP(+) = nonanal + NADPH + H(+)BIOPHYSICOCHEMICAL PROPERTIES kcat is 36 min(-1) for all-trans-retinal as substrate. kcat is 45 min(-1) for 11-cis-retinal as substrate. kcat is 14 min(-1) for 9-cis-retinal as substrate. kcat is 27 min(-1) for all-trans-retinol as substrate. kcat is 7 min(-1) for 11-cis-retinol as substrate. kcat is 7 min(-1) for 9-cis-retinol as substrate. kcat is 56 min(-1) for nonanal as substrate. kcat is 45 min(-1) for (Z)-non-6-enal as substrate. kcat is 28 min(-1) for (E)-non-2-enal.PATHWAY Cofactor metabolism; retinol metabolism.INTERACTION Widely expressed, mostly in retina, kidney, brain, skeletal muscle, pancreas and stomach.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS Shows clear specificity for the pro-S hydrogen on C4 of NADPH and the pro-R hydrogen on C15 of retinols.SIMILARITY Belongs to the short-chain dehydrogenases/reductases (SDR) family. |
| description | recommendedName: Retinol dehydrogenase 12 ecNumber evidence="2 6"1.1.1.300 alternativeName: All-trans and 9-cis retinol dehydrogenase alternativeName: Short chain dehydrogenase/reductase family 7C member 2 |
| geneName | RDH12 SDR7C2 |
| identifier | Q96NR8 |
| isSequenceChanged | FALSE |
| keyword | Disease variant Endoplasmic reticulum Leber congenital amaurosis Lipid metabolism Membrane NADP Oxidoreductase Proteomics identification Reference proteome Retinitis pigmentosa Sensory transduction Vision |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | RDH12 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8996827] ENSEMBL:ENSG00000139988 RDH12 [Homo sapiens] |
| secondaryIdentifier | RDH12_HUMAN B2RDA2 Q8TAW6 |
| sequenceLength | 316 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:2464787] RDH12 [photoreceptor inner segment membrane] [Homo sapiens] [EntityWithAccessionedSequence:2471667] RDH12 Q189* [photoreceptor inner segment membrane] [Homo sapiens] [EntityWithAccessionedSequence:2471697] RDH12 Y226C [photoreceptor inner segment membrane] [Homo sapiens] [EntityWithAccessionedSequence:2471748] RDH12 Ala269Glyfs*2 [photoreceptor inner segment membrane] [Homo sapiens] [EntityWithAccessionedSequence:2471751] RDH12 H151N [photoreceptor inner segment membrane] [Homo sapiens] [EntityWithAccessionedSequence:2471753] RDH12 A126V [photoreceptor inner segment membrane] [Homo sapiens] |
| (referenceSequence) | [ReplacedResidue:2471729] L-histidine 151 replaced with L-asparagine [ReplacedResidue:2471737] L-alanine 126 replaced with L-valine [ReplacedResidue:2471738] L-tyrosine 226 replaced with L-cysteine [ReplacedResidue:2471761] L-glutamine 189 replaced with unknown [FragmentReplacedModification:9829081] Replacement of residues 269 to 269 by G |
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No pathways have been reviewed or authored by UniProt:Q96NR8 RDH12 (99772)
