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

Gene ID: 77974, updated on 18-Sep-2024

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
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Genomic context

See Rdh12 in Genome Data Viewer
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_000078.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E10761 Neighboring gene STARR-positive B cell enhancer ABC_E11514 Neighboring gene arginase type II Neighboring gene vesicle transport through interaction with t-SNAREs 1B Neighboring gene retinol dehydrogenase 11 Neighboring gene STARR-seq mESC enhancer starr_32594 Neighboring gene zinc finger, FYVE domain containing 26 Neighboring gene STARR-positive B cell enhancer ABC_E920 Neighboring gene STARR-positive B cell enhancer ABC_E4030 Neighboring gene STARR-positive B cell enhancer ABC_E10762 Neighboring gene RAD51 paralog B Neighboring gene STARR-positive B cell enhancer ABC_E3058 Neighboring gene STARR-seq mESC enhancer starr_32597 Neighboring gene STARR-seq mESC enhancer starr_32598 Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:80612777-80612978 Neighboring gene STARR-positive B cell enhancer ABC_E3059 Neighboring gene STARR-seq mESC enhancer starr_32600 Neighboring gene STARR-positive B cell enhancer ABC_E5335 Neighboring gene STARR-positive B cell enhancer ABC_E1155 Neighboring gene STARR-positive B cell enhancer ABC_E5336 Neighboring gene STARR-seq mESC enhancer starr_32602 Neighboring gene STARR-seq mESC enhancer starr_32603 Neighboring gene STARR-seq mESC enhancer starr_32604 Neighboring gene STARR-seq mESC enhancer starr_32605 Neighboring gene STARR-seq mESC enhancer starr_32606 Neighboring gene VISTA enhancer mm1393 Neighboring gene predicted gene, 36048

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (2)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Clone Names

  • A930033N07Rik

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 11-cis-retinol dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
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 (NAD+) activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables all-trans-retinol dehydrogenase (NADP+) activity ISO
Inferred from Sequence Orthology
more info
 
enables all-trans-retinol dehydrogenase (NADP+) activity ISS
Inferred from Sequence or Structural Similarity
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
 
involved_in retinol metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in retinol metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in retinol metabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in retinol metabolic process ISS
Inferred from Sequence or Structural Similarity
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

Preferred Names
retinol dehydrogenase 12
NP_001300900.1
NP_084293.1

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_001313971.1NP_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:39304
    PRK06197; short chain dehydrogenase; Provisional
    cl21454
    Location:39295
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  2. NM_030017.4NP_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:39316
    PRK06197; short chain dehydrogenase; Provisional
    cl21454
    Location:39307
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000078.7 Reference GRCm39 C57BL/6J

    Range
    79255687..79269438
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)