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RDH12 retinol dehydrogenase 12 [ Homo sapiens (human) ]

Gene ID: 145226, updated on 11-Sep-2019

Summary

Official Symbol
RDH12provided by HGNC
Official Full Name
retinol dehydrogenase 12provided by HGNC
Primary source
HGNC:HGNC:19977
See related
Ensembl:ENSG00000139988 MIM:608830
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
RP53; LCA13; SDR7C2
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 this gene are a cause of Leber congenital amaurosis type 13 and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015]
Expression
Biased expression in skin (RPKM 21.6), gall bladder (RPKM 10.8) and 4 other tissues See more
Orthologs

Genomic context

See RDH12 in Genome Data Viewer
Location:
14q24.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (67701886..67734451)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (68168603..68201168)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene gephyrin Neighboring gene Sharpr-MPRA regulatory region 4541 Neighboring gene RNA, 5S ribosomal pseudogene 386 Neighboring gene RNA, 7SL, cytoplasmic 369, pseudogene Neighboring gene vesicle transport through interaction with t-SNAREs 1B Neighboring gene DnaJ heat shock protein family (Hsp40) member C9 pseudogene Neighboring gene retinol dehydrogenase 11 Neighboring gene ribosomal protein L21 pseudogene 9 Neighboring gene RNA, 7SL, cytoplasmic 213, pseudogene Neighboring gene zinc finger FYVE-type containing 26

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ30273

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADP-retinol dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
NADP-retinol dehydrogenase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
retinol dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cellular detoxification of aldehyde IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
photoreceptor cell maintenance TAS
Traceable Author Statement
more info
PubMed 
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
visual perception TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
photoreceptor inner segment ISS
Inferred from Sequence or Structural Similarity
more info
 
photoreceptor inner segment membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
retinol dehydrogenase 12
Names
all-trans and 9-cis retinol dehydrogenase
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
retinol dehydrogenase 12, all-trans and 9-cis
short chain dehydrogenase/reductase family 7C member 2
NP_689656.2

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_008321.1 RefSeqGene

    Range
    5001..37566
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_152443.3NP_689656.2  retinol dehydrogenase 12 precursor

    See identical proteins and their annotated locations for NP_689656.2

    Status: REVIEWED

    Source sequence(s)
    AK315462, BC025724
    Consensus CDS
    CCDS9787.1
    UniProtKB/Swiss-Prot
    Q96NR8
    UniProtKB/TrEMBL
    A0A0S2Z613
    Related
    ENSP00000449079.1, ENST00000551171.5
    Conserved Domains (1) summary
    cd09807
    Location:39307
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    67701886..67734451
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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