UniProt:Q96NR8 RDH12

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:15865448, PubMed:12226107). 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:19686838, PubMed:15865448). 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:15865448, PubMed:12226107).CATALYTIC ACTIVITY all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPHCATALYTIC ACTIVITY 11-cis-retinol + NADP(+) = 11-cis-retinal + H(+) + NADPHCATALYTIC ACTIVITY 9-cis-retinol + NADP(+) = 9-cis-retinal + H(+) + NADPHCATALYTIC ACTIVITY a 4-hydroxynonen-1-ol + NADP(+) = a 4-hydroxynonenal + H(+) + NADPHCATALYTIC ACTIVITY (E)-non-2-en-1-ol + NADP(+) = (E)-non-2-enal + H(+) + NADPHCATALYTIC ACTIVITY (Z)-non-6-en-1-ol + NADP(+) = (Z)-non-6-enal + H(+) + NADPHCATALYTIC ACTIVITY NADP(+) + nonan-1-ol = H(+) + NADPH + nonanalBIOPHYSICOCHEMICAL 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.
crossReference
databaseName UniProt
dbId 99772
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
displayName UniProt:Q96NR8 RDH12
geneName
  • RDH12
  • SDR7C2
identifier Q96NR8
isSequenceChanged false
keyword
  • Disease variant
  • Endoplasmic reticulum
  • Leber congenital amaurosis
  • Lipid metabolism
  • Membrane
  • NADP
  • Oxidoreductase
  • Reference proteome
  • Retinitis pigmentosa
  • Sensory transduction
  • Vision
modified [InstanceEdit:12187927] Wright, Adam, 2024-03-12
name
  • RDH12
otherIdentifier
  • 11727251_at
  • 145226
  • 16785709
  • 242998_PM_at
  • 242998_at
  • 3541453
  • 3541461
  • 3541462
  • 3541463
  • 3541464
  • 3541465
  • 3541468
  • 3541469
  • 3541470
  • 3541472
  • 3541474
  • 3541477
  • 3541478
  • 63476_at
  • 7975284
  • A_23_P37088
  • GE80080
  • GO:0001523
  • GO:0001917
  • GO:0003824
  • GO:0004745
  • GO:0005515
  • GO:0005783
  • GO:0005789
  • GO:0005886
  • GO:0006629
  • GO:0007601
  • GO:0016020
  • GO:0016491
  • GO:0042572
  • GO:0043226
  • GO:0045494
  • GO:0050877
  • GO:0050896
  • GO:0052650
  • GO:0060342
  • GO:0098754
  • GO:0102354
  • GO:0110095
  • HMNXSV003002431
  • Hs.21299.0.A1_3p_at
  • ILMN_1792182
  • PH_hs_0025012
  • TC14000410.hg
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • RDH12_HUMAN
  • B2RDA2
  • Q8TAW6
sequenceLength 316
species [Species:48887] Homo sapiens
url https://purl.uniprot.org/uniprot/Q96NR8
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