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Protein

Retinol dehydrogenase 11

Gene

RDH11

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

NADP

Enzyme and pathway databases

BioCyciMetaCyc:HS01050-MONOMER.
ZFISH: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-RKQ8TC12.

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:17964. RDH11.

Subcellular locationi

Topology

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

GO - Cellular componenti

Complete GO annotation...

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.

PTM databases

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

Protein-protein interaction databases

BioGridi119298. 22 interactors.
IntActiQ8TC12. 8 interactors.
STRINGi9606.ENSP00000370750.

Structurei

3D structure databases

ProteinModelPortaliQ8TC12.
SMRiQ8TC12.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1208. Eukaryota.
COG1028. LUCA.
GeneTreeiENSGT00760000119068.
HOVERGENiHBG078800.
InParanoidiQ8TC12.
KOiK11152.
OMAiHSSFMRW.
OrthoDBiEOG091G0FGA.
PhylomeDBiQ8TC12.
TreeFamiTF105429.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR016040. NAD(P)-bd_dom.
IPR002347. SDR_fam.
[Graphical view]
PfamiPF00106. adh_short. 1 hit.
[Graphical view]
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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ8TC12.
SMRiQ8TC12.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119298. 22 interactors.
IntActiQ8TC12. 8 interactors.
STRINGi9606.ENSP00000370750.

Chemistry databases

DrugBankiDB00162. Vitamin A.

PTM databases

iPTMnetiQ8TC12.
PhosphoSitePlusiQ8TC12.
SwissPalmiQ8TC12.

Polymorphism and mutation databases

BioMutaiRDH11.
DMDMi34395789.

Proteomic databases

EPDiQ8TC12.
MaxQBiQ8TC12.
PaxDbiQ8TC12.
PeptideAtlasiQ8TC12.
PRIDEiQ8TC12.

Protocols and materials databases

DNASUi51109.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi51109.
DisGeNETi51109.
GeneCardsiRDH11.
HGNCiHGNC:17964. RDH11.
HPAiCAB046011.
MalaCardsiRDH11.
MIMi607849. gene.
616108. phenotype.
neXtProtiNX_Q8TC12.
OpenTargetsiENSG00000072042.
PharmGKBiPA134981588.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1208. Eukaryota.
COG1028. LUCA.
GeneTreeiENSGT00760000119068.
HOVERGENiHBG078800.
InParanoidiQ8TC12.
KOiK11152.
OMAiHSSFMRW.
OrthoDBiEOG091G0FGA.
PhylomeDBiQ8TC12.
TreeFamiTF105429.

Enzyme and pathway databases

BioCyciMetaCyc:HS01050-MONOMER.
ZFISH: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-RKQ8TC12.

Miscellaneous databases

ChiTaRSiRDH11. human.
GeneWikiiRDH11.
GenomeRNAii51109.
PROiQ8TC12.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000072042.
CleanExiHS_RDH11.
ExpressionAtlasiQ8TC12. baseline and differential.
GenevisibleiQ8TC12. HS.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR016040. NAD(P)-bd_dom.
IPR002347. SDR_fam.
[Graphical view]
PfamiPF00106. adh_short. 1 hit.
[Graphical view]
PRINTSiPR00081. GDHRDH.
PR00080. SDRFAMILY.
SUPFAMiSSF51735. SSF51735. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiRDH11_HUMAN
AccessioniPrimary (citable) accession number: Q8TC12
Secondary accession number(s): A6NDK3
, A8K062, B2RB26, B4DDW0, Q0QD40, Q6IAH5, Q9NRW0, Q9Y391
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 29, 2003
Last sequence update: August 29, 2003
Last modified: November 2, 2016
This is version 141 of the entry and version 2 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.