RDH10 retinol dehydrogenase 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RDH10provided by HGNC
Official Full Name: retinol dehydrogenase 10provided by HGNC
Primary source: HGNC:HGNC:19975
See related: Ensembl:ENSG00000121039 MIM:607599
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: SDR16C4
Summary: This gene encodes a retinol dehydrogenase, which converts all-trans-retinol to all-trans-retinal, with preference for NADP as a cofactor. Studies in mice suggest that this protein is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development. [provided by RefSeq, Dec 2011]
Expression: Ubiquitous expression in kidney (RPKM 18.4), gall bladder (RPKM 13.9) and 24 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 8q21.11

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
109.20191205	current	GRCh38.p13 (GCF_000001405.39)	8	NC_000008.11 (73294602..73325281)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (74206837..74237520)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

increased expression of ALDH1A1-RDH10-RARalpha- PPARbeta/delta pattern could be considered as adverse prognostic factor associated with a higher concentration of paraprotein and worst overall survival of patients with newly diagnosed multiple myeloma.
Title: [Gene expression of key enzymes for all-trans- retinoic acid biosynthesis - ALDHJAI and RDH10: relationship with co-expression of nuclear receptors RARα and PPARβ/δ genes and some clinical characteristics in multiple myeloma.
In close proximity to RDH10 gene on human chromosome 8 are located two genes that are phylogenetically related to RDH10. The predicted protein products of these genes, retinol dehydrogenase epidermal 2 (RDHE2, SDR16C5) and retinol dehydrogenase epidermal 2-similar (RDHE2S, SDR16C6), share 59% and 56% sequence similarity with RDH10.
Title: Characterization of human short chain dehydrogenase/reductase SDR16C family members related to retinol dehydrogenase 10.
the bifunctional nature of retinoid oxidoreductase complex provides the RA-based signaling system with robustness by safeguarding appropriate RA concentration despite naturally occurring fluctuations in RDH10 and DHRS3.
Title: The antagonistically bifunctional retinoid oxidoreductase complex is required for maintenance of all-<i>trans</i>-retinoic acid homeostasis.
Taken together, our findings demonstrate that RDH10 is essential during the early stages of facial morphogenesis for the formation of a functional nasal airway, and furthermore establish Rdh10 mutant mice as an important model system to study choanal atresia (CA) .
Title: Rdh10 loss-of-function and perturbed retinoid signaling underlies the etiology of choanal atresia.
Insulin inhibits retinoic acid biosynthesis through inhibition of FoxO1-induced Rdh10 gene expression.
Title: Insulin regulates retinol dehydrogenase expression and all-trans-retinoic acid biosynthesis through FoxO1.
Data indicate that retinaldehyde reductase (DHRS3) requires retinol dehydrogenase 10 (RDH10) for full enzymatic activity and, in turn, activates RDH10.
Title: The retinaldehyde reductase activity of DHRS3 is reciprocally activated by retinol dehydrogenase 10 to control retinoid homeostasis.
all three proteins (RDH10, RALDH2, and CRABP2) appeared to be required for ATRA production induced by activation of PPARgamma
Title: RDH10, RALDH2, and CRABP2 are required components of PPARγ-directed ATRA synthesis and signaling in human dendritic cells.
Retinol dehydrogenase 10 but not retinol/sterol dehydrogenase(s) regulates the expression of retinoic acid-responsive genes in human transgenic skin raft culture.
Title: Retinol dehydrogenase 10 but not retinol/sterol dehydrogenase(s) regulates the expression of retinoic acid-responsive genes in human transgenic skin raft culture.
CYP4Z1, KIR and RDH10 could play a role in non-small-cell lung cancer progression
Title: Identification of genes associated with non-small-cell lung cancer promotion and progression.
wild-type RDH10 catalysed both oxidation of all-trans-retinol and reduction of all-trans-retinal in a cofactor-dependent manner In vitro, however, oxidation is the favoured reaction catalysed by RDH10
Title: Characterization of key residues and membrane association domains in retinol dehydrogenase 10.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

NHGRI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S2067E (e-PCR)
- UniSTS:151120

SHGC-132522 (e-PCR)
- UniSTS:173937

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-32652 (e-PCR)
- UniSTS:45434

D11S3114 (e-PCR)
- UniSTS:152207

RH94261 (e-PCR)
- UniSTS:88816

SHGC-84561 (e-PCR)
- UniSTS:102897

D8S1627 (e-PCR)
- UniSTS:81912

SHGC-34375 (e-PCR)
- UniSTS:79353

RH16166 (e-PCR)
- UniSTS:79354

Homology

Homologs of the RDH10 gene: The RDH10 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 288 organisms have orthologs with human gene RDH10
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NADP-retinol dehydrogenase activity	IEA Inferred from Electronic Annotation more info
retinol dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
bud elongation involved in lung branching	IEA Inferred from Electronic Annotation more info
ear development	IEA Inferred from Electronic Annotation more info
embryonic camera-type eye development	IEA Inferred from Electronic Annotation more info
embryonic forelimb morphogenesis	IEA Inferred from Electronic Annotation more info
embryonic viscerocranium morphogenesis	IEA Inferred from Electronic Annotation more info
gonad development	IEA Inferred from Electronic Annotation more info
in utero embryonic development	IEA Inferred from Electronic Annotation more info
metanephros development	IEA Inferred from Electronic Annotation more info
neural crest cell development	IEA Inferred from Electronic Annotation more info
nose development	IEA Inferred from Electronic Annotation more info
oxidation-reduction process	IEA Inferred from Electronic Annotation more info
positive regulation of retinoic acid biosynthetic process	IEA Inferred from Electronic Annotation more info
primary lung bud formation	IEA Inferred from Electronic Annotation more info
retinal metabolic process	IDA Inferred from Direct Assay more info	PubMed
retinoic acid biosynthetic process	IEA Inferred from Electronic Annotation more info
retinoid metabolic process	TAS Traceable Author Statement more info
retinol metabolic process	IDA Inferred from Direct Assay more info	PubMed
retinol metabolic process	IEA Inferred from Electronic Annotation more info
visual perception	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum membrane	TAS Traceable Author Statement more info
integral component of membrane	IDA Inferred from Direct Assay more info	PubMed
lipid droplet	IBA Inferred from Biological aspect of Ancestor more info	PubMed
NOT nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: retinol dehydrogenase 10

Names: retinol dehydrogenase 10 (all-trans); short chain dehydrogenase/reductase family 16C member 4

NP_742034.1

EC 1.1.1.300

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.