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    RDH16 retinol dehydrogenase 16 [ Homo sapiens (human) ]

    Gene ID: 8608, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RDH16provided by HGNC
    Official Full Name
    retinol dehydrogenase 16provided by HGNC
    Primary source
    HGNC:HGNC:29674
    See related
    Ensembl:ENSG00000139547 MIM:620043; AllianceGenome:HGNC:29674
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RODH4; RODH-4; SDR9C8; hRDH-E
    Summary
    Enables all-trans-retinol dehydrogenase (NAD+) activity; androstan-3-alpha,17-beta-diol dehydrogenase activity; and androsterone dehydrogenase activity. Involved in steroid metabolic process. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward liver (RPKM 111.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See RDH16 in Genome Data Viewer
    Location:
    12q13.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (56951431..56957608, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (56919300..56925477, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57345215..57351392, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene short chain dehydrogenase/reductase family 9C member 7 Neighboring gene retinol dehydrogenase 16 (all-trans) pseudogene Neighboring gene origin of replication ori6 Neighboring gene uncharacterized LOC124902945 Neighboring gene retinol dehydrogenase 16 (all-trans) pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr12.2240 Neighboring gene G protein-coupled receptor 182 Neighboring gene zinc finger and BTB domain containing 39

    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. Expression of a retinol dehydrogenase (hRoDH-4), a member of the retinol/steroid dehydrogenase family implicated in retinoic acid biosynthesis, in normal and neoplastic endometria. Cain JM, et al. Am J Obstet Gynecol, 2002 Apr. PMID 11967490
    2. NSPc1 promotes cancer stem cell self-renewal by repressing the synthesis of all-trans retinoic acid via targeting RDH16 in malignant glioma. Hu PS, et al. Oncogene, 2017 Aug 17. PMID 28394339
    3. Differential recognition of the free versus bound retinol by human microsomal retinol/sterol dehydrogenases: characterization of the holo-CRBP dehydrogenase activity of RoDH-4. Lapshina EA, et al. Biochemistry, 2003 Jan 28. PMID 12534290
    4. Cloning and characterization of retinol dehydrogenase transcripts expressed in human epidermal keratinocytes. Jurukovski V, et al. Mol Genet Metab, 1999 May. PMID 10329026
    5. cDNA cloning and characterization of a new human microsomal NAD+-dependent dehydrogenase that oxidizes all-trans-retinol and 3alpha-hydroxysteroids. Gough WH, et al. J Biol Chem, 1998 Jul 31. PMID 9677409

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RDH16 is a stemness suppressor that partially rescues stem cell-like glioma cells from the NSPc1-induced increase in neurosphere formation.
      Title: NSPc1 promotes cancer stem cell self-renewal by repressing the synthesis of all-trans retinoic acid via targeting RDH16 in malignant glioma.
    2. In endometrial cancers, hRoDH-4 immunoreactivity was markedly reduced.
      Title: Expression of a retinol dehydrogenase (hRoDH-4), a member of the retinol/steroid dehydrogenase family implicated in retinoic acid biosynthesis, in normal and neoplastic endometria.
    3. Characterization of the retinol dehydrogenase activity of RoDH-4 identifies it as the enzyme capable of accessing the bound form of retinol for retinoic acid production.
      Title: Differential recognition of the free versus bound retinol by human microsomal retinol/sterol dehydrogenases: characterization of the holo-CRBP dehydrogenase activity of RoDH-4.
    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

    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

    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

    Homology

    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 electron transfer activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in lipid metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in retinol metabolic process IBA
    Inferred from Biological aspect of Ancestor
    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 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    retinol dehydrogenase 16
    Names
    human epidermal retinol dehydrogenase
    microsomal NAD+-dependent retinol dehydrogenase 4
    retinol dehydrogenase 16 (all-trans and 13-cis)
    retinol dehydrogenase 16 (all-trans)
    short chain dehydrogenase/reductase family 9C, member 8
    sterol/retinol dehydrogenase
    NP_001307037.1
    NP_003699.3

    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.

    mRNA and Protein(s)

    1. NM_001320108.2 → NP_001307037.1  retinol dehydrogenase 16 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon and initiates translation at an alternate downstream start codon compared to variant 1. The encoded isoform (2) has a shorter, distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AB209332, AW449664
      UniProtKB/TrEMBL
      Q59FX7
      Conserved Domains (1) summary
      cl21454
      Location:46 → 160
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. NM_003708.5 → NP_003699.3  retinol dehydrogenase 16 isoform 1

      See identical proteins and their annotated locations for NP_003699.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB209332, AC026120, AF057034, AW449664
      Consensus CDS
      CCDS41797.1
      UniProtKB/Swiss-Prot
      O75452, Q9UNV2
      Related
      ENSP00000381206.3, ENST00000398138.5
      Conserved Domains (2) summary
      pfam00106
      Location:30 → 218
      adh_short; short chain dehydrogenase
      cl21454
      Location:30 → 305
      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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      56951431..56957608 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      56919300..56925477 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75452.2 GenPept UniProtKB/Swiss-Prot:O75452

    Gene LinkOut

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