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    RDH5 retinol dehydrogenase 5 [ Homo sapiens (human) ]

    Gene ID: 5959, updated on 2-Nov-2024

    Summary

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    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

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    See RDH5 in Genome Data Viewer
    Location:
    12q13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (55720393..55724705)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (55687027..55691339)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56114177..56118489)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56075179-56075854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:56078881-56079380 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:56087579-56088778 Neighboring gene thiol methyltransferase 1B Neighboring gene integrin subunit alpha 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4534 Neighboring gene BLOC1S1-RDH5 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:56114612-56115240 Neighboring gene biogenesis of lysosomal organelles complex 1 subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4535 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:56122619-56123225 Neighboring gene CD63 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6459 Neighboring gene CD63 molecule Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4537 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56140299-56140802 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:56140803-56141306 Neighboring gene growth differentiation factor 11 Neighboring gene SAP domain containing ribonucleoprotein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Macular dystrophy in a Japanese family with fundus albipunctatus. Hotta K, et al. Am J Ophthalmol, 2003 Jun. PMID 12788147
    2. Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus). Sergouniotis PI, et al. Ophthalmology, 2011 Aug. PMID 21529959
    3. A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus. Kuroiwa S, et al. Am J Ophthalmol, 2000 Nov. PMID 11078852
    4. Genetic analysis of expression profile involved in retinoid metabolism in non-alcoholic fatty liver disease. Ashla AA, et al. Hepatol Res, 2010 Jun. PMID 20618457
    5. Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus. Driessen CA, et al. Ophthalmology, 2001 Aug. PMID 11470705

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium.
      Title: Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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
    		not available

    EBI GWAS Catalog

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

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    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
    NP_002896.2

    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_008606.1 RefSeqGene

      Range
      5027..9339
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      55720393..55724705
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      55687027..55691339
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92781.1 GenPept UniProtKB/Swiss-Prot:Q92781

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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