RDH8 retinol dehydrogenase 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RDH8provided by HGNC
Official Full Name: retinol dehydrogenase 8provided by HGNC
Primary source: HGNC:HGNC:14423
See related: Ensembl:ENSG00000080511 MIM:608575; AllianceGenome:HGNC:14423
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: PRRDH; SDR28C2
Summary: 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]
Expression: Biased expression in kidney (RPKM 1.0), testis (RPKM 0.7) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (10013483..10022279)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (10139673..10148469)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (10124159..10132955)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy.
Title: A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy.
Targeted capture sequencing identifies genetic variations of GRK4 and RDH8 in Han Chinese with essential hypertension in Xinjiang.
Title: Targeted capture sequencing identifies genetic variations of GRK4 and RDH8 in Han Chinese with essential hypertension in Xinjiang.
Progression of retinal degeneration in Rdh8-deficient Abca4-deficient mice is affected by differential vulnerability of rods and cones to light.
Title: Retinal cone and rod photoreceptor cells exhibit differential susceptibility to light-induced damage.
Our family- and population-based data both suggest that the RDH8 gene is unlikely to be associated with high myopia in Chinese
Title: Investigation of the association between all-trans-retinol dehydrogenase (RDH8) polymorphisms and high myopia in Chinese.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of the association between all-trans-retinol dehydrogenase (RDH8) polymorphisms and high myopia in Chinese.
prRDH is an enzyme that catalyzes reduction of all-trans-retinal in the rod outer segment, most noticeably at higher light intensities and prolonged illumination, but is not an essential enzyme of the retinoid cycle
Title: Role of photoreceptor-specific retinol dehydrogenase in the retinoid cycle in vivo.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:486731

NoName (e-PCR)
- UniSTS:494553

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables all-trans-retinol dehydrogenase (NAD+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables all-trans-retinol dehydrogenase (NADP+) activity	IEA Inferred from Electronic Annotation more info
enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity	IEA Inferred from Electronic Annotation more info

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

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: retinol dehydrogenase 8

Names: photoreceptor outer segment all-trans retinol dehydrogenase; retinol dehydrogenase 8 (all-trans); short chain dehydrogenase/reductase family 28C member 2

NP_056540.3

EC 1.1.1.300

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_033979.1 RefSeqGene

Range

5235..14031

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_015725.4 → NP_056540.3 retinol dehydrogenase 8

Status: REVIEWED

Source sequence(s)

AC008742, AF229845, AK024022

Consensus CDS

CCDS12223.3

UniProtKB/Swiss-Prot

Q9H838, Q9NYR8

UniProtKB/TrEMBL

K7ELF7

Related

ENSP00000466058.2, ENST00000591589.3

Conserved Domains (1) summary

cd09806
Location:6 → 262

type1_17beta-HSD-like_SDR_c; human estrogenic 17beta-hydroxysteroid dehydrogenase type 1 (type 1 17beta-HSD)-like, classical (c) SDRs