RDH5 retinol dehydrogenase 5 [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:9940
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: mouse all
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Genomic context

Location:: 12q13.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (55720393..55724705)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (55687027..55691339)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (56114177..56118489)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.
Title: Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.
Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium.
Title: Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium.
Retinal dehydrogenase 5 (RHD5) attenuates metastasis via regulating HIPPO/YAP signaling pathway in Hepatocellular Carcinoma.
Title: Retinal dehydrogenase 5 (RHD5) attenuates metastasis via regulating HIPPO/YAP signaling pathway in Hepatocellular Carcinoma.
A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds.
Title: A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds.
Multimodal imaging and electroretinography of RDH5-related fundus albipunctatus (FAP) revealed high frequencies of macular involvement in older patients and decreased cone responses.
Title: RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort.
a novel homozygous missense mutation, (c.602 C > T) in exon 4 of the RDH5 gene (MIM: 601617) was identified. This mutation resulted in substitution of phenyl alanine for serine at amino acid 201 (p.Ser201Phe) of the RDH5 gene. Identification of this mutation reveals the allelic heterogeneity of RDH5 in patients with retinitis pigmentosa phenotype.
Title: A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family.
We conclude that the expression of Rlbp1 and Rdh5 critically depends on functional Mitf in the RPE and suggest that MITF has an important role in controlling retinoid processing in the RPE.
Title: Microphthalmia-associated transcription factor regulates the visual cycle genes Rlbp1 and Rdh5 in the retinal pigment epithelium.
A novel c.832C>T (p.Arg278Ter) nonsense mutation in RDH5 was identified. Preserved rod function was observed in one young subject in this study.
Title: RDH5 retinopathy (fundus albipunctatus) with preserved rod function.
Macular cone density is lower and the regularity of the macular cone mosaic spatial arrangement is disrupted in eyes with fundus albipunctatus.
Title: Cone abnormalities in fundus albipunctatus associated with RDH5 mutations assessed using adaptive optics scanning laser ophthalmoscopy.
RDH5 sequence analysis revealed a novel five base pair deletion, c.913_917delGTGCT (p.Val305Hisfs*29), in family A, and a novel missense mutation, c.758T>G (p.Met253Arg), in family B with fundus albipunctatus.
Title: Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A010A32 (e-PCR)
- UniSTS:48648

D11S2921 (e-PCR)
- UniSTS:152074

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

SGC34432 (e-PCR)
- UniSTS:24397

D7S2067E (e-PCR)
- UniSTS:151120

PMC85795P2 (e-PCR)
- UniSTS:273492

G33052 (e-PCR)
- UniSTS:117629

RH41921 (e-PCR)
- UniSTS:53634

RH17484 (e-PCR)
- UniSTS:41185

D11S3316 (e-PCR)
- UniSTS:152558

Readthrough BLOC1S1-RDH5

Readthrough gene: BLOC1S1-RDH5, Included gene: BLOC1S1

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 11-cis-retinol dehydrogenase	IEA Inferred from Electronic Annotation more info
enables all-trans-retinol dehydrogenase (NAD+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables all-trans-retinol dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed
enables all-trans-retinol dehydrogenase (NAD+) activity	TAS Traceable Author Statement more info
enables androstan-3-alpha,17-beta-diol dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
enables androsterone dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in retinoid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in retinoid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in retinoid metabolic process	TAS Traceable Author Statement more info
involved_in retinol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in steroid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in steroid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell body	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum lumen	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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

EC 1.1.1.209

EC 1.1.1.315

EC 1.1.1.53

NP_002896.2

EC 1.1.1.209

EC 1.1.1.315

EC 1.1.1.53

NCBI Reference Sequences (RefSeq)

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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

NG_008606.1 RefSeqGene

Range

5027..9339

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001199771.3 → NP_001186700.1 retinol dehydrogenase 5

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

Consensus CDS

CCDS31829.1

UniProtKB/Swiss-Prot

O00179, Q8TAI2, Q92781

Related

ENSP00000447128.1, ENST00000548082.1

Conserved Domains (2) summary

PRK08017
Location:31 → 308

PRK08017; oxidoreductase; Provisional

cd09805
Location:30 → 306

type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs
NM_002905.5 → NP_002896.2 retinol dehydrogenase 5

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

O00179, Q8TAI2, Q92781

Related

ENSP00000257895.6, ENST00000257895.10

Conserved Domains (2) summary

PRK08017
Location:31 → 308

PRK08017; oxidoreductase; Provisional

cd09805
Location:30 → 306

type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs