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Q8N3Y7

- RDHE2_HUMAN

UniProt

Q8N3Y7 - RDHE2_HUMAN

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Protein

Epidermal retinol dehydrogenase 2

Gene

SDR16C5

Organism
Homo sapiens (Human)
Status
Reviewed - 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

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei177 – 1771SubstrateSequence Analysis
Active sitei190 – 1901Proton acceptorBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi44 – 6825NAD or NADPBy similarityAdd
BLAST

GO - Molecular functioni

  1. retinol dehydrogenase activity Source: UniProtKB

GO - Biological processi

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

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

NAD, NADP

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000170786-MONOMER.
UniPathwayiUPA00912.

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
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:30311. SDR16C5.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA164725585.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 309309Epidermal retinol dehydrogenase 2PRO_0000305973Add
BLAST

Proteomic databases

MaxQBiQ8N3Y7.
PaxDbiQ8N3Y7.
PRIDEiQ8N3Y7.

PTM databases

PhosphoSiteiQ8N3Y7.

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

BgeeiQ8N3Y7.
ExpressionAtlasiQ8N3Y7. baseline and differential.
GenevestigatoriQ8N3Y7.

Organism-specific databases

HPAiHPA025224.

Interactioni

Protein-protein interaction databases

BioGridi128184. 3 interactions.
IntActiQ8N3Y7. 2 interactions.
STRINGi9606.ENSP00000307607.

Structurei

3D structure databases

ProteinModelPortaliQ8N3Y7.
SMRiQ8N3Y7. Positions 35-302.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei11 – 3121HelicalSequence AnalysisAdd
BLAST
Transmembranei270 – 29021HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1028.
GeneTreeiENSGT00540000069900.
HOVERGENiHBG051352.
InParanoidiQ8N3Y7.
KOiK15734.
OMAiNFLDCPD.
OrthoDBiEOG7Z3F50.
PhylomeDBiQ8N3Y7.
TreeFamiTF312837.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR002198. DH_sc/Rdtase_SDR.
IPR002347. Glc/ribitol_DH.
IPR016040. NAD(P)-bd_dom.
[Graphical view]
PfamiPF00106. adh_short. 1 hit.
[Graphical view]
PRINTSiPR00081. GDHRDH.
PR00080. SDRFAMILY.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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 BAB71545.1 differs from that shown. Reason: Frameshift at position 226.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti93 – 931H → R in BAB91014. (PubMed:12372410)Curated
Sequence conflicti116 – 1161V → I in BAB91014. (PubMed:12372410)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti62 – 621R → W.1 Publication
Corresponds to variant rs4151643 [ dbSNP | Ensembl ].
VAR_035234

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei112 – 15544Missing in isoform 2. 2 PublicationsVSP_028389Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
PIRiJC7895.
RefSeqiNP_620419.2. NM_138969.2. [Q8N3Y7-1]
XP_005251237.1. XM_005251180.1. [Q8N3Y7-2]
UniGeneiHs.170673.

Genome annotation databases

EnsembliENST00000303749; ENSP00000307607; ENSG00000170786. [Q8N3Y7-1]
ENST00000396721; ENSP00000379947; ENSG00000170786. [Q8N3Y7-2]
GeneIDi195814.
KEGGihsa:195814.
UCSCiuc003xsy.1. human. [Q8N3Y7-1]
uc010lyl.1. human. [Q8N3Y7-2]

Polymorphism databases

DMDMi74750974.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS6167.1. [Q8N3Y7-1 ]
PIRi JC7895.
RefSeqi NP_620419.2. NM_138969.2. [Q8N3Y7-1 ]
XP_005251237.1. XM_005251180.1. [Q8N3Y7-2 ]
UniGenei Hs.170673.

3D structure databases

ProteinModelPortali Q8N3Y7.
SMRi Q8N3Y7. Positions 35-302.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 128184. 3 interactions.
IntActi Q8N3Y7. 2 interactions.
STRINGi 9606.ENSP00000307607.

PTM databases

PhosphoSitei Q8N3Y7.

Polymorphism databases

DMDMi 74750974.

Proteomic databases

MaxQBi Q8N3Y7.
PaxDbi Q8N3Y7.
PRIDEi Q8N3Y7.

Protocols and materials databases

DNASUi 195814.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000303749 ; ENSP00000307607 ; ENSG00000170786 . [Q8N3Y7-1 ]
ENST00000396721 ; ENSP00000379947 ; ENSG00000170786 . [Q8N3Y7-2 ]
GeneIDi 195814.
KEGGi hsa:195814.
UCSCi uc003xsy.1. human. [Q8N3Y7-1 ]
uc010lyl.1. human. [Q8N3Y7-2 ]

Organism-specific databases

CTDi 195814.
GeneCardsi GC08M057212.
H-InvDB HIX0007518.
HGNCi HGNC:30311. SDR16C5.
HPAi HPA025224.
MIMi 608989. gene.
neXtProti NX_Q8N3Y7.
PharmGKBi PA164725585.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1028.
GeneTreei ENSGT00540000069900.
HOVERGENi HBG051352.
InParanoidi Q8N3Y7.
KOi K15734.
OMAi NFLDCPD.
OrthoDBi EOG7Z3F50.
PhylomeDBi Q8N3Y7.
TreeFami TF312837.

Enzyme and pathway databases

UniPathwayi UPA00912 .
BioCyci MetaCyc:ENSG00000170786-MONOMER.

Miscellaneous databases

GenomeRNAii 195814.
NextBioi 89389.
PROi Q8N3Y7.
SOURCEi Search...

Gene expression databases

Bgeei Q8N3Y7.
ExpressionAtlasi Q8N3Y7. baseline and differential.
Genevestigatori Q8N3Y7.

Family and domain databases

Gene3Di 3.40.50.720. 1 hit.
InterProi IPR002198. DH_sc/Rdtase_SDR.
IPR002347. Glc/ribitol_DH.
IPR016040. NAD(P)-bd_dom.
[Graphical view ]
Pfami PF00106. adh_short. 1 hit.
[Graphical view ]
PRINTSi PR00081. GDHRDH.
PR00080. SDRFAMILY.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of the hRDH-E2 gene, a novel member of the SDR family, and its increased expression in psoriatic lesion."
    Matsuzaka Y., Okamoto K., Tsuji H., Mabuchi T., Ozawa A., Tamiya G., Inoko H.
    Biochem. Biophys. Res. Commun. 297:1171-1180(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    Tissue: Keratinocyte.
  2. "Cloning of a novel splice variant of RDH-E2."
    Zheng H., Xie Y., Mao Y.
    Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Brain and Trachea.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  6. "Biochemical characterization of human epidermal retinol dehydrogenase 2."
    Lee S.-A., Belyaeva O.V., Kedishvili N.Y.
    Chem. Biol. Interact. 178:182-187(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.
  7. "hRDH-E2 gene polymorphisms, variable transcriptional start sites, and psoriasis."
    Matsuzaka Y., Okamoto K., Yoshikawa Y., Takaki A., Oka A., Mabuchi T., Iizuka M., Ozawa A., Tamiya G., Kulski J.K., Inoko H.
    Mamm. Genome 15:668-675(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TRP-62.

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: October 29, 2014
This is version 100 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

External Data

Dasty 3