Rdh8 retinol dehydrogenase 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rdh8provided by MGI
Official Full Name: retinol dehydrogenase 8provided by MGI
Primary source: MGI:MGI:2685028
See related: Ensembl:ENSMUSG00000053773 AllianceGenome:MGI:2685028
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm182; prRDH
Summary: Enables all-trans-retinol dehydrogenase (NAD+) activity. Acts upstream of or within retinol metabolic process and visual perception. Predicted to be active in cytosol. Is expressed in eye. Used to study age related macular degeneration 2. Orthologous to human RDH8 (retinol dehydrogenase 8). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 9 A3; 9 7.64 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (20729790..20739354)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (20818494..20828058)

Chromosome 9 - NC_000075.7 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?

a comprehensive analysis using RNA-seq identified important roles of the acute stress response in the degenerating retina of Abca4-/-Rdh8-/- mice that are predisposed to retinal degeneration under light stress.
Title: Acute Stress Responses Are Early Molecular Events of Retinal Degeneration in Abca4-/-Rdh8-/- Mice After Light Exposure.
Findings are consistent with localization of RDH8 to the outer segment where it provides most of the activity needed to reduce all-trans-retinal generated by the light response.
Title: Reduction of all-trans-retinal in vertebrate rod photoreceptors requires the combined action of RDH8 and RDH12.
mice lacking both the ATP-binding cassette transporter 4 (Abca4) and enzyme retinol dehydrogenase 8 (Rdh8), proteins critical for all-trans-retinal clearance from photoreceptors, developed severe RPE/photoreceptor dystrophy at an early age
Title: Retinopathy in mice induced by disrupted all-trans-retinal clearance.
prRDH is an enzyme that catalyzes reduction of all-trans-retinal in the rod outer segment, most noticeably at higher light intensities and prolonged illumination, but is not an essential enzyme of the retinoid cycle
Title: Role of photoreceptor-specific retinol dehydrogenase in the retinoid cycle in vivo.

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Variation

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Alleles

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

Endonuclease-mediated (4)
Targeted (1) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
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

Process	Evidence Code	Pubs
involved_in retinol metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within retinol metabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: retinol dehydrogenase 8

NP_001025461.1

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_001030290.2 → NP_001025461.1 retinol dehydrogenase 8

See identical proteins and their annotated locations for NP_001025461.1

Status: VALIDATED

Source sequence(s)

AC166365

Consensus CDS

CCDS22884.1

UniProtKB/TrEMBL

D3Z6W3

Related

ENSMUSP00000067662.5, ENSMUST00000066387.6

Conserved Domains (2) summary

pfam00106
Location:6 → 201

adh_short; short chain dehydrogenase

cl21454
Location:6 → 263

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