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RDH8 retinol dehydrogenase 8 [ Homo sapiens (human) ]

Gene ID: 50700, updated on 23-Nov-2021

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
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
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Genomic context

See RDH8 in Genome Data Viewer
Location:
19p13.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (10013483..10022279)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (10124159..10132955)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene olfactomedin 2 Neighboring gene collagen type V alpha 3 chain Neighboring gene CRISPRi-validated cis-regulatory element chr19.1735 Neighboring gene microRNA 5589

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
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NAD-retinol dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
enables NADP-retinol dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
enables estradiol 17-beta-dehydrogenase 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 response to stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in retinol metabolic process IEA
Inferred from Electronic Annotation
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
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

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

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

  1. NG_033979.1 RefSeqGene

    Range
    5235..14031
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015725.4NP_056540.3  retinol dehydrogenase 8

    Status: REVIEWED

    Source sequence(s)
    AC008742, AF229845, AK024022
    Consensus CDS
    CCDS12223.2
    Related
    ENSP00000466058.2, ENST00000591589.3
    Conserved Domains (1) summary
    cd09806
    Location:6262
    type1_17beta-HSD-like_SDR_c; human estrogenic 17beta-hydroxysteroid dehydrogenase type 1 (type 1 17beta-HSD)-like, classical (c) SDRs

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    10013483..10022279
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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