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RDH5 retinol dehydrogenase 5 [ Homo sapiens (human) ]

Gene ID: 5959, updated on 13-Mar-2020

Summary

Official Symbol
RDH5provided by HGNC
Official Full Name
retinol dehydrogenase 5provided by HGNC
Primary source
HGNC:HGNC:9940
See related
Ensembl:ENSG00000135437 MIM:601617
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RDH1; 9cRDH; SDR9C5; HSD17B9
Summary
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]
Expression
Biased expression in fat (RPKM 73.0), liver (RPKM 14.5) and 5 other tissues See more
Orthologs

Genomic context

See RDH5 in Genome Data Viewer
Location:
12q13.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (55720393..55724742)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56114151..56118526)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene methyltransferase like 7B Neighboring gene integrin subunit alpha 7 Neighboring gene BLOC1S1-RDH5 readthrough Neighboring gene biogenesis of lysosomal organelles complex 1 subunit 1 Neighboring gene uncharacterized LOC105369779 Neighboring gene CD63 molecule Neighboring gene growth differentiation factor 11 Neighboring gene SAP domain containing ribonucleoprotein

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Pigmentary retinal dystrophy
MedGen: C0311338 OMIM: 136880 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of retinol dehydrogenase 5 (11-cis/9-cis) (RDH5) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough BLOC1S1-RDH5

Readthrough gene: BLOC1S1-RDH5, Included gene: BLOC1S1

Homology

Clone Names

  • FLJ39337, FLJ97089

Gene Ontology Provided by GOA

Function Evidence Code Pubs
androstan-3-alpha,17-beta-diol dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
androsterone dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
retinol dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
retinoid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
retinol metabolic process IEA
Inferred from Electronic Annotation
more info
 
steroid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell body IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum lumen IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
retinol dehydrogenase 5
Names
11-cis RDH
11-cis RoDH
9-cis retinol dehydrogenase
9-cis-retinol specific dehydrogenase
retinol dehydrogenase 1
retinol dehydrogenase 5 (11-cis and 9-cis)
retinol dehydrogenase 5 (11-cis/9-cis)
short chain dehydrogenase/reductase family 9C member 5
NP_001186700.1
NP_002896.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008606.1 RefSeqGene

    Range
    5027..9376
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199771.2NP_001186700.1  retinol dehydrogenase 5 precursor

    See identical proteins and their annotated locations for NP_001186700.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC028298, BI765016, BP381700, BU617433
    Consensus CDS
    CCDS31829.1
    UniProtKB/Swiss-Prot
    Q92781
    UniProtKB/TrEMBL
    A0A024RB18
    Related
    ENSP00000447128.1, ENST00000548082.1
    Conserved Domains (2) summary
    PRK08017
    Location:31308
    PRK08017; oxidoreductase; Provisional
    cd09805
    Location:30306
    type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs
  2. NM_002905.5NP_002896.2  retinol dehydrogenase 5 precursor

    See identical proteins and their annotated locations for NP_002896.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    BP381700, BU617433, U43559
    Consensus CDS
    CCDS31829.1
    UniProtKB/Swiss-Prot
    Q92781
    UniProtKB/TrEMBL
    A0A024RB18
    Related
    ENSP00000257895.5, ENST00000257895.9
    Conserved Domains (2) summary
    PRK08017
    Location:31308
    PRK08017; oxidoreductase; Provisional
    cd09805
    Location:30306
    type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    55720393..55724742
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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