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    RDH11 retinol dehydrogenase 11 [ Homo sapiens (human) ]

    Gene ID: 51109, updated on 3-Nov-2024

    Summary

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    Official Symbol
    RDH11provided by HGNC
    Official Full Name
    retinol dehydrogenase 11provided by HGNC
    Primary source
    HGNC:HGNC:17964
    See related
    Ensembl:ENSG00000072042 MIM:607849; AllianceGenome:HGNC:17964
    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
    MDT1; CGI82; PSDR1; RALR1; SCALD; ARSDR1; HCBP12; RDJCSS; SDR7C1
    Summary
    Enables all-trans-retinol dehydrogenase (NADP+) activity. Involved in cellular detoxification of aldehyde and retinoid metabolic process. Acts upstream of or within retinal metabolic process. Located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in prostate (RPKM 353.6), kidney (RPKM 48.4) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RDH11 in Genome Data Viewer
    Location:
    14q24.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (67676800..67695764, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (61883919..61902884, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (68143517..68162481, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene gephyrin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5861 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5863 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5865 Neighboring gene Sharpr-MPRA regulatory region 4541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5866 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:68161998-68162634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8585 Neighboring gene RNA, 5S ribosomal pseudogene 386 Neighboring gene cytochrome c oxidase subunit 7A2 pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 369, pseudogene Neighboring gene vesicle transport through interaction with t-SNAREs 1B Neighboring gene ribosomal protein L21 pseudogene 9 Neighboring gene retinol dehydrogenase 12

    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. Prostate short-chain dehydrogenase reductase 1 (PSDR1): a new member of the short-chain steroid dehydrogenase/reductase family highly expressed in normal and neoplastic prostate epithelium. Lin B, et al. Cancer Res, 2001 Feb 15. PMID 11245473
    2. Structure of the N-terminal segment of human retinol dehydrogenase 11 and its preferential lipid binding using model membranes. Lhor M, et al. Biochim Biophys Acta, 2015 Mar. PMID 25542782
    3. Evidence that the human gene for prostate short-chain dehydrogenase/reductase (PSDR1) encodes a novel retinal reductase (RalR1). Kedishvili NY, et al. J Biol Chem, 2002 Aug 9. PMID 12036956
    4. New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Xie YA, et al. Hum Mol Genet, 2014 Nov 1. PMID 24916380, Free PMC Article
    5. Properties of short-chain dehydrogenase/reductase RalR1: characterization of purified enzyme, its orientation in the microsomal membrane, and distribution in human tissues and cell lines. Belyaeva OV, et al. Biochemistry, 2003 Dec 23. PMID 14674758

    See all (77) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data suggest that membrane anchoring of retinol dehydrogenase 11 (RDH11) is likely driven by its N-terminal segment.
      Title: Structure of the N-terminal segment of human retinol dehydrogenase 11 and its preferential lipid binding using model membranes.
    2. Data indicate that ribosomal protein L11 (RPL11)-expressing cells proliferated more rapidly than the ribosomal protein L11 (RPL11)-expressing cells.
      Title: Ribosomal protein L11- and retinol dehydrogenase 11-induced erythroid proliferation without erythropoietin in UT-7/Epo erythroleukemic cells.
    3. deleterious mutations in RDH11, an important enzyme for vision-related and systemic retinoic acid metabolism, cause a new syndrome with RP.
      Title: New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.
    4. The core protein of HCV can interact with translin protein. This can partly explain the molecular mechanism for hepatocellular carcinoma and lymphoma caused by HCV.
      Title: Interaction between hepatitis C virus core protein and translin protein--a possible molecular mechanism for hepatocellular carcinoma and lymphoma caused by hepatitis C virus.
    5. Expression pattern and high catalytic efficiency of RalR1 are consistent with the hypothesis that RalR1 contributes to the reduction of retinal in various human tissues.
      Title: Properties of short-chain dehydrogenase/reductase RalR1: characterization of purified enzyme, its orientation in the microsomal membrane, and distribution in human tissues and cell lines.
    6. Prostate short-chain dehydrogenase/reductase (PSDR1) encodes a novel retinal reductase (RalR1).
      Title: Evidence that the human gene for prostate short-chain dehydrogenase/reductase (PSDR1) encodes a novel retinal reductase (RalR1).
    7. RDH11 localizes to photoreceptor inner segments [review]
      Title: Photoreceptor retinol dehydrogenases. An attempt to characterize the function of Rdh11.
    Submit: New GeneRIF Correction

    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
    Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
    MedGen: C4015242 OMIM: 616108 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of retinol dehydrogenase 11 (RDH11) expression by HIV-1 Vpr in Vpr transduced macrophages 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

    Potential readthrough

    Included gene: VTI1B

    Homology

    Clone Names

    • FLJ32633

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 11-cis-retinol dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables aldehyde dehydrogenase (NADP+) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables all-trans-retinol dehydrogenase (NAD+) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables all-trans-retinol dehydrogenase (NAD+) activity TAS
    Traceable Author Statement
    more info
    		  
    enables all-trans-retinol dehydrogenase (NADP+) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables all-trans-retinol dehydrogenase (NADP+) activity TAS
    Traceable Author Statement
    more info
    		  
    enables oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular detoxification of aldehyde IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within retinal metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 retinol metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in photoreceptor inner segment IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    retinol dehydrogenase 11
    Names
    HCV core-binding protein HCBP12
    androgen-regulated short-chain dehydrogenase/reductase 1
    prostate short-chain dehydrogenase reductase 1
    retinal reductase 1
    retinol dehydrogenase 11 (all-trans/9-cis/11-cis)
    short chain dehydrogenase/reductase family 7C, member 1
    NP_001239579.1
    NP_057110.3

    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_042282.1 RefSeqGene

      Range
      5030..23994
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001252650.2 → NP_001239579.1  retinol dehydrogenase 11 isoform 2

      See identical proteins and their annotated locations for NP_001239579.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame coding exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AI382141, AK293355, AL049779, DC355364
      Consensus CDS
      CCDS58326.1
      UniProtKB/Swiss-Prot
      Q8TC12
      Related
      ENSP00000416395.2, ENST00000428130.6
      Conserved Domains (1) summary
      cl21454
      Location:41 → 239
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. NM_016026.4 → NP_057110.3  retinol dehydrogenase 11 isoform 1

      See identical proteins and their annotated locations for NP_057110.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF167438, BC011727, DC355364
      Consensus CDS
      CCDS32104.1
      UniProtKB/Swiss-Prot
      A6NDK3, A8K062, B2RB26, B4DDW0, Q0QD40, Q6IAH5, Q8TC12, Q9NRW0, Q9Y391
      UniProtKB/TrEMBL
      A0A0S2Z583
      Related
      ENSP00000370750.4, ENST00000381346.9
      Conserved Domains (2) summary
      PRK06197
      Location:41 → 314
      PRK06197; short chain dehydrogenase; Provisional
      cl21454
      Location:41 → 309
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      67676800..67695764 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      61883919..61902884 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TC12.2 GenPept UniProtKB/Swiss-Prot:Q8TC12

    Gene LinkOut

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

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