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RDH16 retinol dehydrogenase 16 [ Homo sapiens (human) ]

Gene ID: 8608, updated on 11-Apr-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 NAD-retinol dehydrogenase 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, Apr 2022]
Expression
Restricted expression toward liver (RPKM 111.9) See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (56951431..56957608, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (56919300..56925477, complement)
105.20220307 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
  • 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_2023_10

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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