RDH8
Retinol dehydrogenase 8
Also known as: PRRDH, RDH8_HUMAN, SDR28C2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NYR8
- Gene
- RDH8
- Ensembl
- ENSG00000080511
- Chromosome
- 19
- Canonical length
- 311 aa
- Protein class
- Enzymes, Metabolic proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Midbody ring,Cytosol
OverviewNCBI Gene
This gene encodes a member of the short-chain dehydrogenase/reductase family. The encoded protein catalyzes the reduction of all-trans-retinal to all-trans-retinol, the first reaction step of the rhodopsin regeneration pathway. This enzymatic reaction is the rate-limiting step in the visual cycle. [provided by RefSeq, Feb 2014]
Canonical amino-acid sequenceUniProt
311 residues, UniProt reviewed canonical sequence.
>Q9NYR8|RDH8
1 MAAAPRTVLI SGCSSGIGLE LAVQLAHDPK KRYQVVATMR DLGKKETLEA AAGEALGQTL
61 TVAQLDVCSD ESVAQCLSCI QGEVDVLVNN AGMGLVGPLE GLSLAAMQNV FDTNFFGAVR
121 LVKAVLPGMK RRRQGHIVVI SSVMGLQGVI FNDVYAASKF ALEGFFESLA IQLLQFNIFI
181 SLVEPGPVVT EFEGKLLAQV SMAEFPGTDP ETLHYFRDLY LPASRKLFCS VGQNPQDVVQ
241 AIVNVISSTR PPLRRQTNIR YSPLTTLKTV DSSGSLYVRT THRLLFRCPR LLNLGLQCLS
301 CGCLPTRVRP RLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RDH8 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 3
- Mean surface accessibility (rSASA)
- 0.28
- Highest tissue expression
- 106 nTPM
Expression across tissuesHPA
Tissue
- retina: 106 nTPM
- kidney: 3.8 nTPM
- testis: 3 nTPM
- parathyroid gland: 0.2 nTPM
- appendix: 0.1 nTPM
- adipose tissue: 0 nTPM
Single-cell type
- rod photoreceptor cells: 164 nCPM
- early spermatids: 61 nCPM
- loop of henle epithelial cells: 52 nCPM
- cone photoreceptor cells: 48 nCPM
- late primary spermatocytes: 43 nCPM
- retinal bipolar cells: 25 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- choroid plexus: 0.2 nTPM
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebellum: 0 nTPM
- cerebral cortex: 0 nTPM
- hippocampal formation: 0 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RDH8.
Disease | AllUniProt
Conditions RDH8 is implicated in, by any mechanism.
- Stargardt disease 5 (STGD5) MIM:621259
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 32 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Stargardt disease 5
- Melanoma
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.14
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.26
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- all-trans-retinol dehydrogenase (NAD+) activity
- all-trans-retinol dehydrogenase (NADP+) activity
- estradiol 17-beta-dehydrogenase [NAD(P)+] activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RDH8 as an antibody target. Whether an autoantibody or antibody against RDH8 could matter depends on whether native RDH8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RDH8 is annotated at the cell surface, where native RDH8 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label RDH8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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