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RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) [ Homo sapiens (human) ]

Gene ID: 145226, updated on 26-May-2016
Official Symbol
RDH12provided by HGNC
Official Full Name
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)provided by HGNC
Primary source
HGNC:HGNC:19977
See related
Ensembl:ENSG00000139988 HPRD:10585; MIM:608830; Vega:OTTHUMG00000170032
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]
Orthologs
Location:
14q24.1
Exon count:
9
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 RNA, 5S ribosomal pseudogene 386 Neighboring gene vesicle transport through interaction with t-SNAREs 1B Neighboring gene retinol dehydrogenase 11 (all-trans/9-cis/11-cis) Neighboring gene ribosomal protein L21 pseudogene 9 Neighboring gene DnaJ heat shock protein family (Hsp40) member C9 pseudogene Neighboring gene zinc finger FYVE-type containing 26 Neighboring gene RAD51 paralog B Neighboring gene centrosomal protein 170kDa pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ30273

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
photoreceptor cell maintenance TAS
Traceable Author Statement
more info
PubMed 
response to stimulus 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 
visual perception TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
intracellular IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor inner segment membrane TAS
Traceable Author Statement
more info
 
Preferred Names
retinol dehydrogenase 12
Names
all-trans and 9-cis retinol dehydrogenase
retinol dehydrogenase 12, all-trans and 9-cis
short chain dehydrogenase/reductase family 7C member 2
short chain dehydrogenase/reductase family 7C, member 2
NP_689656.2

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_152443.2NP_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, OTTHUMP00000242640, ENST00000551171, OTTHUMT00000406918
    Conserved Domains (2) summary
    cd09807
    Location:39307
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
    PRK06197
    Location:39316
    PRK06197; short chain dehydrogenase; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 Alternate CHM1_1.1

    Range
    68107353..68139905
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)