Seroatlas · Human Serome Atlas

RDH5

Retinol dehydrogenase 5

Also known as: HSD17B9, RDH1, RDH5_HUMAN, SDR9C5

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q92781
Gene
RDH5
Ensembl
ENSG00000135437
Chromosome
12
Canonical length
318 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Vesicles
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010]

Canonical amino-acid sequenceUniProt

318 residues, UniProt reviewed canonical sequence.

>Q92781|RDH5
     1  MWLPLLLGAL LWAVLWLLRD RQSLPASNAF VFITGCDSGF GRLLALQLDQ RGFRVLASCL
    61  TPSGAEDLQR VASSRLHTTL LDITDPQSVQ QAAKWVEMHV KEAGLFGLVN NAGVAGIIGP
   121  TPWLTRDDFQ RVLNVNTMGP IGVTLALLPL LQQARGRVIN ITSVLGRLAA NGGGYCVSKF
   181  GLEAFSDSLR RDVAHFGIRV SIVEPGFFRT PVTNLESLEK TLQACWARLP PATQAHYGGA
   241  FLTKYLKMQQ RIMNLICDPD LTKVSRCLEH ALTARHPRTR YSPGWDAKLL WLPASYLPAS
   301  LVDAVLTWVL PKPAQAVY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RDH5 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
Other membrane
Secreted
No
Transmembrane segments
2
Mean surface accessibility (rSASA)
0.26
Highest tissue expression
89 nTPM

Expression across tissuesHPA

Tissue

  • adipose tissue: 89 nTPM
  • liver: 55 nTPM
  • breast: 34 nTPM
  • smooth muscle: 18 nTPM
  • duodenum: 17 nTPM
  • blood vessel: 17 nTPM

Single-cell type

  • enterocytes: 18 nCPM
  • retinal pigment epithelial cells: 17 nCPM
  • epididymal principal cells: 10 nCPM
  • colonocytes: 8 nCPM
  • epididymal efferent duct absorptive cells: 7.7 nCPM
  • paneth cells: 7.7 nCPM

Immune cell

  • memory CD8 T-cell: 0.5 nTPM
  • plasmacytoid DC: 0.5 nTPM
  • eosinophil: 0.4 nTPM
  • NK-cell: 0.3 nTPM
  • memory CD4 T-cell: 0.2 nTPM
  • myeloid DC: 0.2 nTPM

Brain region

  • choroid plexus: 5.3 nTPM
  • white matter: 4.9 nTPM
  • thalamus: 3.9 nTPM
  • medulla oblongata: 3.8 nTPM
  • basal ganglia: 3.2 nTPM
  • spinal cord: 3.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RDH5.

Disease | AllUniProt

Conditions RDH5 is implicated in, by any mechanism.

Disease | GeneticClinVar

58 pathogenic / likely-pathogenic of 319 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.61
gnomAD pLI
0
gnomAD missense Z
0.39
DepMap mean gene effect
-0.23
DepMap dependency class
selective

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RDH5 as an antibody target. Whether an autoantibody or antibody against RDH5 could matter depends on whether native RDH5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RDH5 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label RDH5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RDH5. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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