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    RDH8 retinol dehydrogenase 8 [ Homo sapiens (human) ]

    Gene ID: 50700, updated on 2-May-2024

    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
    NEW
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    Genomic context

    See RDH8 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (10013483..10022279)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (10139673..10148469)
    105.20220307 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 uncharacterized LOC124904636 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10049 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10046447-10047041 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10047708-10048210 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:10062835-10063428 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:10063429-10064021 Neighboring gene collagen type V alpha 3 chain Neighboring gene ReSE screen-validated silencer GRCh37_chr19:10109314-10109542 Neighboring gene Sharpr-MPRA regulatory region 3549 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10112173-10112674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10112675-10113174 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50731 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:10128438-10129637 Neighboring gene CRISPRi-validated cis-regulatory element chr19.1735 Neighboring gene microRNA 5589 Neighboring gene complement component 3 precursor pseudogene

    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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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
      CCDS12223.3
      UniProtKB/Swiss-Prot
      Q9H838, Q9NYR8
      UniProtKB/TrEMBL
      K7ELF7
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      10139673..10148469
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)