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Protein

Epidermal retinol dehydrogenase 2

Gene

SDR16C5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

Oxidoreductase with strong preference for NAD. Active in both the oxidative and reductive directions. Oxidizes all-trans-retinol in all-trans-retinaldehyde. No activity was detected with 11-cis-retinol or 11-cis-retinaldehyde as substrates with either NAD+/NADH or NADP+/NADPH.1 Publication

Catalytic activityi

All-trans-retinol-[cellular-retinol-binding-protein] + NAD+ = all-trans-retinal-[cellular-retinol-binding-protein] + NADH.

Pathwayi: retinol metabolism

This protein is involved in the pathway retinol metabolism, which is part of Cofactor metabolism.
View all proteins of this organism that are known to be involved in the pathway retinol metabolism and in Cofactor metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei177SubstrateSequence analysis1
Active sitei190Proton acceptorBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi44 – 68NAD or NADPBy similarityAdd BLAST25

GO - Molecular functioni

  • retinol dehydrogenase activity Source: UniProtKB

GO - Biological processi

  • detection of light stimulus involved in visual perception Source: UniProtKB
  • keratinocyte proliferation Source: UniProtKB
  • retinal metabolic process Source: UniProtKB
  • retinol metabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

NAD, NADP

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000170786-MONOMER.
ZFISH:ENSG00000170786-MONOMER.
BRENDAi1.1.1.105. 2681.
ReactomeiR-HSA-5365859. RA biosynthesis pathway.
UniPathwayiUPA00912.

Protein family/group databases

MoonProtiQ8N3Y7.

Names & Taxonomyi

Protein namesi
Recommended name:
Epidermal retinol dehydrogenase 2 (EC:1.1.1.105)
Short name:
EPHD-2
Short name:
RDH-E2
Alternative name(s):
Retinal short-chain dehydrogenase reductase 2
Short name:
retSDR2
Short-chain dehydrogenase/reductase family 16C member 5
Gene namesi
Name:SDR16C5
Synonyms:RDHE2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:30311. SDR16C5.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei11 – 31HelicalSequence analysisAdd BLAST21
Transmembranei270 – 290HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • endoplasmic reticulum membrane Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi195814.
OpenTargetsiENSG00000170786.
PharmGKBiPA164725585.

Polymorphism and mutation databases

BioMutaiSDR16C5.
DMDMi74750974.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003059731 – 309Epidermal retinol dehydrogenase 2Add BLAST309

Proteomic databases

MaxQBiQ8N3Y7.
PaxDbiQ8N3Y7.
PeptideAtlasiQ8N3Y7.
PRIDEiQ8N3Y7.

PTM databases

iPTMnetiQ8N3Y7.

Expressioni

Tissue specificityi

Detected in adult lung. Detected at low levels in adult brain, heart, testis, placenta, cervix, pancreas, uterus, stomach, rectum, small intestine, colon, esophagus, thymus, skin, and skin keratinocyte. Expression is higher in psoriasis lesions relative to unaffected skin from psoriasis patients. Detected in fetal kidney, skin and lung.1 Publication

Gene expression databases

BgeeiENSG00000170786.
ExpressionAtlasiQ8N3Y7. baseline and differential.
GenevisibleiQ8N3Y7. HS.

Organism-specific databases

HPAiHPA025224.

Interactioni

Protein-protein interaction databases

BioGridi128184. 5 interactors.
IntActiQ8N3Y7. 2 interactors.
STRINGi9606.ENSP00000307607.

Structurei

3D structure databases

ProteinModelPortaliQ8N3Y7.
SMRiQ8N3Y7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1201. Eukaryota.
COG1028. LUCA.
GeneTreeiENSGT00540000069900.
HOVERGENiHBG051352.
InParanoidiQ8N3Y7.
KOiK15734.
OMAiDGFVDQK.
PhylomeDBiQ8N3Y7.
TreeFamiTF312837.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR016040. NAD(P)-bd_dom.
IPR002347. SDR_fam.
[Graphical view]
PANTHERiPTHR24322. PTHR24322. 2 hits.
PfamiPF00106. adh_short. 1 hit.
[Graphical view]
PRINTSiPR00081. GDHRDH.
PR00080. SDRFAMILY.
SUPFAMiSSF51735. SSF51735. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N3Y7-1) [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
MSFNLQSSKK LFIFLGKSLF SLLEAMIFAL LPKPRKNVAG EIVLITGAGS
60 70 80 90 100
GLGRLLALQF ARLGSVLVLW DINKEGNEET CKMAREAGAT RVHAYTCDCS
110 120 130 140 150
QKEGVYRVAD QVKKEVGDVS ILINNAGIVT GKKFLDCPDE LMEKSFDVNF
160 170 180 190 200
KAHLWTYKAF LPAMIANDHG HLVCISSSAG LSGVNGLADY CASKFAAFGF
210 220 230 240 250
AESVFVETFV QKQKGIKTTI VCPFFIKTGM FEGCTTGCPS LLPILEPKYA
260 270 280 290 300
VEKIVEAILQ EKMYLYMPKL LYFMMFLKSF LPLKTGLLIA DYLGILHAMD

GFVDQKKKL
Length:309
Mass (Da):34,095
Last modified:March 1, 2004 - v2
Checksum:iBEA108508E903DC1
GO
Isoform 2 (identifier: Q8N3Y7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     112-155: Missing.

Show »
Length:265
Mass (Da):29,164
Checksum:iD282F1A785251F63
GO

Sequence cautioni

The sequence BAB71545 differs from that shown. Reason: Frameshift at position 226.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti93H → R in BAB91014 (PubMed:12372410).Curated1
Sequence conflicti116V → I in BAB91014 (PubMed:12372410).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03523462R → W.1 PublicationCorresponds to variant rs4151643dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_028389112 – 155Missing in isoform 2. 2 PublicationsAdd BLAST44

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB083038 mRNA. Translation: BAB91014.1.
AY444559 mRNA. Translation: AAS68535.1.
AK057667 mRNA. Translation: BAB71545.1. Frameshift.
AK294634 mRNA. Translation: BAG57813.1.
CH471068 Genomic DNA. Translation: EAW86780.1.
BC037219 mRNA. Translation: AAH37219.2.
BC064525 mRNA. Translation: AAH64525.1.
CCDSiCCDS6167.1. [Q8N3Y7-1]
CCDS83295.1. [Q8N3Y7-2]
PIRiJC7895.
RefSeqiNP_001304978.1. NM_001318049.1.
NP_001304979.1. NM_001318050.1. [Q8N3Y7-2]
NP_620419.2. NM_138969.3. [Q8N3Y7-1]
UniGeneiHs.170673.

Genome annotation databases

EnsembliENST00000303749; ENSP00000307607; ENSG00000170786. [Q8N3Y7-1]
ENST00000396721; ENSP00000379947; ENSG00000170786. [Q8N3Y7-2]
GeneIDi195814.
KEGGihsa:195814.
UCSCiuc003xsy.2. human. [Q8N3Y7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB083038 mRNA. Translation: BAB91014.1.
AY444559 mRNA. Translation: AAS68535.1.
AK057667 mRNA. Translation: BAB71545.1. Frameshift.
AK294634 mRNA. Translation: BAG57813.1.
CH471068 Genomic DNA. Translation: EAW86780.1.
BC037219 mRNA. Translation: AAH37219.2.
BC064525 mRNA. Translation: AAH64525.1.
CCDSiCCDS6167.1. [Q8N3Y7-1]
CCDS83295.1. [Q8N3Y7-2]
PIRiJC7895.
RefSeqiNP_001304978.1. NM_001318049.1.
NP_001304979.1. NM_001318050.1. [Q8N3Y7-2]
NP_620419.2. NM_138969.3. [Q8N3Y7-1]
UniGeneiHs.170673.

3D structure databases

ProteinModelPortaliQ8N3Y7.
SMRiQ8N3Y7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128184. 5 interactors.
IntActiQ8N3Y7. 2 interactors.
STRINGi9606.ENSP00000307607.

Protein family/group databases

MoonProtiQ8N3Y7.

PTM databases

iPTMnetiQ8N3Y7.

Polymorphism and mutation databases

BioMutaiSDR16C5.
DMDMi74750974.

Proteomic databases

MaxQBiQ8N3Y7.
PaxDbiQ8N3Y7.
PeptideAtlasiQ8N3Y7.
PRIDEiQ8N3Y7.

Protocols and materials databases

DNASUi195814.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000303749; ENSP00000307607; ENSG00000170786. [Q8N3Y7-1]
ENST00000396721; ENSP00000379947; ENSG00000170786. [Q8N3Y7-2]
GeneIDi195814.
KEGGihsa:195814.
UCSCiuc003xsy.2. human. [Q8N3Y7-1]

Organism-specific databases

CTDi195814.
DisGeNETi195814.
GeneCardsiSDR16C5.
H-InvDBHIX0007518.
HGNCiHGNC:30311. SDR16C5.
HPAiHPA025224.
MIMi608989. gene.
neXtProtiNX_Q8N3Y7.
OpenTargetsiENSG00000170786.
PharmGKBiPA164725585.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1201. Eukaryota.
COG1028. LUCA.
GeneTreeiENSGT00540000069900.
HOVERGENiHBG051352.
InParanoidiQ8N3Y7.
KOiK15734.
OMAiDGFVDQK.
PhylomeDBiQ8N3Y7.
TreeFamiTF312837.

Enzyme and pathway databases

UniPathwayiUPA00912.
BioCyciMetaCyc:ENSG00000170786-MONOMER.
ZFISH:ENSG00000170786-MONOMER.
BRENDAi1.1.1.105. 2681.
ReactomeiR-HSA-5365859. RA biosynthesis pathway.

Miscellaneous databases

ChiTaRSiSDR16C5. human.
GenomeRNAii195814.
PROiQ8N3Y7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000170786.
ExpressionAtlasiQ8N3Y7. baseline and differential.
GenevisibleiQ8N3Y7. HS.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR016040. NAD(P)-bd_dom.
IPR002347. SDR_fam.
[Graphical view]
PANTHERiPTHR24322. PTHR24322. 2 hits.
PfamiPF00106. adh_short. 1 hit.
[Graphical view]
PRINTSiPR00081. GDHRDH.
PR00080. SDRFAMILY.
SUPFAMiSSF51735. SSF51735. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiRDHE2_HUMAN
AccessioniPrimary (citable) accession number: Q8N3Y7
Secondary accession number(s): B4DGK2
, Q330K3, Q8TDV9, Q96LX1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: March 1, 2004
Last modified: November 2, 2016
This is version 118 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 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. 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.