ENSG00000135437


Homo sapiens

Features
Gene ID: ENSG00000135437
  
Biological name :RDH5
  
Synonyms : Q92781 / RDH5 / retinol dehydrogenase 5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q13.2
Gene start: 55720367
Gene end: 55724705
  
Corresponding Affymetrix probe sets: 210106_at (Human Genome U133 Plus 2.0 Array)   236291_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000447128
Ensembl peptide - ENSP00000447513
Ensembl peptide - ENSP00000448014
Ensembl peptide - ENSP00000449927
Ensembl peptide - ENSP00000257895
NCBI entrez gene - 5959     See in Manteia.
OMIM - 601617
RefSeq - NM_001199771
RefSeq - NM_002905
RefSeq Peptide - NP_001186700
RefSeq Peptide - NP_002896
swissprot - Q92781
swissprot - A0A024RB18
swissprot - F8VUB9
swissprot - F8VVC7
swissprot - H0YHP7
Ensembl - ENSG00000135437
  
Related genetic diseases (OMIM): 136880 - Fundus albipunctatus, 136880
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rdh5ENSDARG00000008306Danio rerio
 Rdh5ENSMUSG00000025350Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
RDH16 / O75452 / retinol dehydrogenase 16 (all-trans)ENSG0000013954752
O14756 / HSD17B6 / hydroxysteroid 17-beta dehydrogenase 6ENSG0000002542350
Q8NEX9 / SDR9C7 / short chain dehydrogenase/reductase family 9C member 7ENSG0000017042647
DHRS9 / Q9BPW9 / dehydrogenase/reductase 9ENSG0000007373743
P80365 / HSD11B2 / hydroxysteroid 11-beta dehydrogenase 2ENSG0000017638732
BDH1 / Q02338 / 3-hydroxybutyrate dehydrogenase 1ENSG0000016126731
P37059 / HSD17B2 / hydroxysteroid 17-beta dehydrogenase 2ENSG0000008669631
P14061 / HSD17B1 / hydroxysteroid 17-beta dehydrogenase 1ENSG0000010878625
RDH8 / retinol dehydrogenase 8 (all-trans)ENSG0000008051124
DHRS7B / Q6IAN0 / dehydrogenase/reductase 7BENSG0000010901621
DHRS7 / Q9Y394 / dehydrogenase/reductase 7ENSG0000010061220
A6NNS2 / DHRS7C / dehydrogenase/reductase 7CENSG0000018454419
KDSR / Q06136 / 3-ketodihydrosphingosine reductaseENSG0000011953716


Protein motifs (from Interpro)
Interpro ID Name
 IPR002347  Short-chain dehydrogenase/reductase SDR
 IPR036291  NAD(P)-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001523 retinoid metabolic process TAS
 biological_processGO:0007601 visual perception TAS
 biological_processGO:0042572 retinol metabolic process IEA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0044297 cell body IEA
 molecular_functionGO:0004745 retinol dehydrogenase activity TAS
 molecular_functionGO:0016491 oxidoreductase activity IEA


Pathways (from Reactome)
Pathway description
Retinoid cycle disease events
The canonical retinoid cycle in rods (twilight vision)
RA biosynthesis pathway


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0030642 Fundus albipunctatus 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000140522 RLBP1 / P12271 / retinaldehyde binding protein 1  / reaction






 

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