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UniProtKB - Q8TC12 (RDH11_HUMAN)

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Protein

Retinol dehydrogenase 11

Gene

RDH11

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity towards 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected.

Catalytic activityi

All-trans-retinol + NADP+ = all-trans-retinal + NADPH.1 Publication

Kineticsi

Vmax is measured per mg microsomal protein.
  1. KM=0.23 µM for NADPH1 Publication
  2. KM=0.8 µM for NADP1 Publication
  3. KM=0.5 µM for all-trans-retinal1 Publication
  4. KM=0.62 µM for 13-cis-retinal1 Publication
  5. KM=0.19 µM for 9-cis-retinal1 Publication
  6. KM=1.3 µM for all-trans-retinol1 Publication
  1. Vmax=18 nmol/min/mg enzyme with all-trans-retinal as substrate1 Publication
  2. Vmax=7 nmol/min/mg enzyme with 13-cis-retinal as substrate1 Publication
  3. Vmax=1.6 nmol/min/mg enzyme with 9-cis-retinal as substrate1 Publication
  4. Vmax=0.95 nmol/min/mg enzyme with all-trans-retinol as substrate1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei177SubstrateBy similarity1
Active sitei202Proton acceptorBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi48 – 54NADPBy similarity7

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionOxidoreductase
LigandNADP

Enzyme and pathway databases

BioCyciMetaCyc:HS01050-MONOMER
BRENDAi1.1.1.300 2681
ReactomeiR-HSA-2453902 The canonical retinoid cycle in rods (twilight vision)
R-HSA-5365859 RA biosynthesis pathway
R-HSA-975634 Retinoid metabolism and transport
SABIO-RKiQ8TC12

Chemistry databases

SwissLipidsiSLP:000001785

Names & Taxonomyi

Protein namesi
Recommended name:
Retinol dehydrogenase 11 (EC:1.1.1.300)
Alternative name(s):
Androgen-regulated short-chain dehydrogenase/reductase 1
HCV core-binding protein HCBP12
Prostate short-chain dehydrogenase/reductase 1
Retinal reductase 1
Short name:
RalR1
Short chain dehydrogenase/reductase family 7C member 1
Gene namesi
Name:RDH11
Synonyms:ARSDR1, PSDR1, SDR7C1
ORF Names:CGI-82
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000072042.12
HGNCiHGNC:17964 RDH11
MIMi607849 gene
neXtProtiNX_Q8TC12

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei1 – 21Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini22 – 318CytoplasmicSequence analysisAdd BLAST297

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Retinal dystrophy, juvenile cataracts, and short stature syndrome (RDJCSS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by retinal dystrophy resulting in progressive decrease in visual acuity and difficulties with night vision in the first decade of life, development of juvenile cataracts, facial dysmorphism, psychomotor developmental delays, learning disabilities and short stature. Ophthalmological findings include salt-and-pepper retinopathy, attenuation of the arterioles, generalized rod-cone dysfunction, mottled macula at an early age, and peripapillary sparing of the retinal pigment epithelium.
See also OMIM:616108

Keywords - Diseasei

Cataract, Dwarfism

Organism-specific databases

DisGeNETi51109
MalaCardsiRDH11
MIMi616108 phenotype
OpenTargetsiENSG00000072042
PharmGKBiPA134981588

Chemistry databases

DrugBankiDB00162 Vitamin A

Polymorphism and mutation databases

BioMutaiRDH11
DMDMi34395789

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000547631 – 318Retinol dehydrogenase 11Add BLAST318

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei112N6-acetyllysineCombined sources1

Post-translational modificationi

Not glycosylated.

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ8TC12
MaxQBiQ8TC12
PaxDbiQ8TC12
PeptideAtlasiQ8TC12
PRIDEiQ8TC12
ProteomicsDBi74069
74070 [Q8TC12-2]

PTM databases

CarbonylDBiQ8TC12
iPTMnetiQ8TC12
PhosphoSitePlusiQ8TC12
SwissPalmiQ8TC12

Expressioni

Tissue specificityi

Predominantly expressed in the epithelial cells of prostate, in both basal and luminal secretory cell populations. Expressed at low levels in spleen, thymus, testis, ovary, small intestine, colon, peripherical blood leukocytes, kidney, adrenal gland and fetal liver. Not detected in prostatic fibromuscular stromal cells, endothelial cells, or infiltrating lymphocytes.

Inductioni

By androgens in prostate cancer cells.

Gene expression databases

BgeeiENSG00000072042
CleanExiHS_RDH11
ExpressionAtlasiQ8TC12 baseline and differential
GenevisibleiQ8TC12 HS

Organism-specific databases

HPAiCAB046011

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
SELENOFO606135EBI-2823756,EBI-1052797

Protein-protein interaction databases

BioGridi119298, 29 interactors
IntActiQ8TC12, 16 interactors
MINTiQ8TC12
STRINGi9606.ENSP00000370750

Structurei

3D structure databases

ProteinModelPortaliQ8TC12
SMRiQ8TC12
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the short-chain dehydrogenases/reductases (SDR) family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1208 Eukaryota
COG1028 LUCA
GeneTreeiENSGT00760000119068
HOVERGENiHBG078800
InParanoidiQ8TC12
KOiK11152
OMAiMWWLFSF
OrthoDBiEOG091G0FGA
PhylomeDBiQ8TC12
TreeFamiTF105429

Family and domain databases

InterProiView protein in InterPro
IPR036291 NAD(P)-bd_dom_sf
IPR002347 SDR_fam
PfamiView protein in Pfam
PF00106 adh_short, 1 hit
PRINTSiPR00081 GDHRDH
PR00080 SDRFAMILY
SUPFAMiSSF51735 SSF51735, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8TC12-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MVELMFPLLL LLLPFLLYMA APQIRKMLSS GVCTSTVQLP GKVVVVTGAN 
        60         70         80         90        100
TGIGKETAKE LAQRGARVYL ACRDVEKGEL VAKEIQTTTG NQQVLVRKLD 
       110        120        130        140        150
LSDTKSIRAF AKGFLAEEKH LHVLINNAGV MMCPYSKTAD GFEMHIGVNH 
       160        170        180        190        200
LGHFLLTHLL LEKLKESAPS RIVNVSSLAH HLGRIHFHNL QGEKFYNAGL 
       210        220        230        240        250
AYCHSKLANI LFTQELARRL KGSGVTTYSV HPGTVQSELV RHSSFMRWMW 
       260        270        280        290        300
WLFSFFIKTP QQGAQTSLHC ALTEGLEILS GNHFSDCHVA WVSAQARNET 
       310 
IARRLWDVSC DLLGLPID
Length:318
Mass (Da):35,386
Last modified:August 29, 2003 - v2
Checksum:i5B0C366552774835
GO
Isoform 2 (identifier: Q8TC12-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     52-64: Missing.

Note: No experimental confirmation available.
Show »
Length:305
Mass (Da):34,004
Checksum:i6125D5184C99FA29
GO
Isoform 3 (identifier: Q8TC12-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     152-221: Missing.

Note: No experimental confirmation available.
Show »
Length:248
Mass (Da):27,402
Checksum:iD10A8E21D83BA33F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti176S → F in AAH51291 (PubMed:15489334).Curated1
Sequence conflicti294A → V in AAF89632 (PubMed:11245473).Curated1
Sequence conflicti316P → S in AAH26274 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00815952 – 64Missing in isoform 2. 2 PublicationsAdd BLAST13
Alternative sequenceiVSP_046403152 – 221Missing in isoform 3. 1 PublicationAdd BLAST70

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF167438 mRNA Translation: AAF89632.1
AF395068 mRNA Translation: AAK72049.1
AF151840 mRNA Translation: AAD34077.1
CR457180 mRNA Translation: CAG33461.1
AK289427 mRNA Translation: BAF82116.1
AK293355 mRNA Translation: BAG56871.1
AK314465 mRNA Translation: BAG37073.1
AK074749 mRNA Translation: BAG51997.1
AL049779 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW80950.1
BC000112 mRNA Translation: AAH00112.1
BC011727 mRNA Translation: AAH11727.1
BC026274 mRNA Translation: AAH26274.1
BC037302 mRNA Translation: AAH37302.1
BC051291 mRNA Translation: AAH51291.1
DQ426886 mRNA Translation: ABD90542.1
CCDSiCCDS32104.1 [Q8TC12-1]
CCDS58326.1 [Q8TC12-3]
RefSeqiNP_001239579.1, NM_001252650.1 [Q8TC12-3]
NP_057110.3, NM_016026.3 [Q8TC12-1]
UniGeneiHs.719925

Genome annotation databases

EnsembliENST00000381346; ENSP00000370750; ENSG00000072042 [Q8TC12-1]
ENST00000428130; ENSP00000416395; ENSG00000072042 [Q8TC12-3]
ENST00000553384; ENSP00000452079; ENSG00000072042 [Q8TC12-2]
GeneIDi51109
KEGGihsa:51109
UCSCiuc001xjv.6 human [Q8TC12-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiRDH11_HUMAN
AccessioniPrimary (citable) accession number: Q8TC12
Secondary accession number(s): A6NDK3
, A8K062, B2RB26, B4DDW0, Q0QD40, Q6IAH5, Q9NRW0, Q9Y391
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 29, 2003
Last sequence update: August 29, 2003
Last modified: July 18, 2018
This is version 154 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

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