Rdh12 retinol dehydrogenase 12 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rdh12provided by MGI
Official Full Name: retinol dehydrogenase 12provided by MGI
Primary source: MGI:MGI:1925224
See related: Ensembl:ENSMUSG00000021123 AllianceGenome:MGI:1925224
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in the human gene are associated with Leber congenital amaurosis type 13, and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015]
Expression: Broad expression in stomach adult (RPKM 6.7), placenta adult (RPKM 6.2) and 17 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 C3; 12 35.51 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (79255687..79269438)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (79208913..79222664)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Retinol dehydrogenase 12 (RDH12) knock out may cause hyperuricemia phenotype in mice.
Title: Retinol dehydrogenase 12 (RDH12) knock out may cause hyperuricemia phenotype in mice.
RDH12 in inner segments can protect vital cell organelles against aldehyde toxicity caused by an intracellular leak of all-trans-retinal, as well as other aldehydes originating both inside and outside the cell.
Title: Reduction of all-trans-retinal in vertebrate rod photoreceptors requires the combined action of RDH8 and RDH12.
a critical function of RDH12 is the reduction of all-trans-retinal that exceeds the reductive capacity of the photoreceptor outer segments
Title: Rdh12 activity and effects on retinoid processing in the murine retina.
Oxidative stress induced by exposure to constant bright light led to a rapid and significant decrease of RDH12 protein. The low and constant expression of RDH11 suggested a housekeeping function for this enzyme.
Title: Retinol dehydrogenases RDH11 and RDH12 in the mouse retina: expression levels during development and regulation by oxidative stress.
RDH12 plays a unique, nonredundant role in the photoreceptor inner segments to regulate the flow of retinoids in the eye.
Title: Retinol dehydrogenase (RDH12) protects photoreceptors from light-induced degeneration in mice.
The present findings, together with those of earlier studies showing only minor functional deficits in mice deficient for Rdh5, Rdh8, or Rdh11, suggest that the activity of any one isoform is not rate limiting in the visual response.
Title: Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables all-trans-retinol dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed
enables all-trans-retinol dehydrogenase (NAD+) activity	ISO Inferred from Sequence Orthology more info
enables all-trans-retinol dehydrogenase (NADP+) activity	ISO Inferred from Sequence Orthology more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cellular detoxification of aldehyde	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular detoxification of aldehyde	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
involved_in retinol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in retinol metabolic process	ISO Inferred from Sequence Orthology more info
involved_in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in visual perception	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in photoreceptor inner segment	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: retinol dehydrogenase 12

NP_001300900.1

EC 1.1.1.300

NP_084293.1

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.

mRNA and Protein(s)

NM_001313971.1 → NP_001300900.1 retinol dehydrogenase 12 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC154585, BC016204

Consensus CDS

CCDS83971.1

UniProtKB/TrEMBL

A0A0R4J1M3

Related

ENSMUSP00000112543.2, ENSMUST00000122227.8

Conserved Domains (2) summary

PRK06197
Location:39 → 304

PRK06197; short chain dehydrogenase; Provisional

cl21454
Location:39 → 295

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
NM_030017.4 → NP_084293.1 retinol dehydrogenase 12 isoform 1

See identical proteins and their annotated locations for NP_084293.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC154585, AK039233, AW491970

Consensus CDS

CCDS26009.1

UniProtKB/Swiss-Prot

Q8BYK4, Q91WA5, Q9D1Y4

Related

ENSMUSP00000021548.6, ENSMUST00000021548.12

Conserved Domains (2) summary

PRK06197
Location:39 → 316

PRK06197; short chain dehydrogenase; Provisional

cl21454
Location:39 → 307

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins