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Q8N3Y7 (RDHE2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 98. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Epidermal retinol dehydrogenase 2

Short name=EPHD-2
Short name=RDH-E2
EC=1.1.1.105
Alternative name(s):
Retinal short-chain dehydrogenase reductase 2
Short name=retSDR2
Short-chain dehydrogenase/reductase family 16C member 5
Gene names
Name:SDR16C5
Synonyms:RDHE2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length309 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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. Ref.6

Catalytic activity

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

Pathway

Cofactor metabolism; retinol metabolism.

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein Potential Ref.6.

Tissue specificity

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. Ref.1

Sequence similarities

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

Sequence caution

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

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N3Y7-1)

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.
Isoform 2 (identifier: Q8N3Y7-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 309309Epidermal retinol dehydrogenase 2
PRO_0000305973

Regions

Transmembrane11 – 3121Helical; Potential
Transmembrane270 – 29021Helical; Potential
Nucleotide binding44 – 6825NAD or NADP By similarity

Sites

Active site1901Proton acceptor By similarity
Binding site1771Substrate Potential

Natural variations

Alternative sequence112 – 15544Missing in isoform 2.
VSP_028389
Natural variant621R → W. Ref.7
Corresponds to variant rs4151643 [ dbSNP | Ensembl ].
VAR_035234

Experimental info

Sequence conflict931H → R in BAB91014. Ref.1
Sequence conflict1161V → I in BAB91014. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2004. Version 2.
Checksum: BEA108508E903DC1

FASTA30934,095
        10         20         30         40         50         60 
MSFNLQSSKK LFIFLGKSLF SLLEAMIFAL LPKPRKNVAG EIVLITGAGS GLGRLLALQF 

        70         80         90        100        110        120 
ARLGSVLVLW DINKEGNEET CKMAREAGAT RVHAYTCDCS QKEGVYRVAD QVKKEVGDVS 

       130        140        150        160        170        180 
ILINNAGIVT GKKFLDCPDE LMEKSFDVNF KAHLWTYKAF LPAMIANDHG HLVCISSSAG 

       190        200        210        220        230        240 
LSGVNGLADY CASKFAAFGF AESVFVETFV QKQKGIKTTI VCPFFIKTGM FEGCTTGCPS 

       250        260        270        280        290        300 
LLPILEPKYA VEKIVEAILQ EKMYLYMPKL LYFMMFLKSF LPLKTGLLIA DYLGILHAMD 


GFVDQKKKL 

« Hide

Isoform 2 [UniParc].

Checksum: D282F1A785251F63
Show »

FASTA26529,164

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS6167.1. [Q8N3Y7-1]
PIRJC7895.
RefSeqNP_620419.2. NM_138969.2. [Q8N3Y7-1]
XP_005251237.1. XM_005251180.1. [Q8N3Y7-2]
UniGeneHs.170673.

3D structure databases

ProteinModelPortalQ8N3Y7.
SMRQ8N3Y7. Positions 35-281.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid128184. 3 interactions.
IntActQ8N3Y7. 2 interactions.
STRING9606.ENSP00000307607.

PTM databases

PhosphoSiteQ8N3Y7.

Polymorphism databases

DMDM74750974.

Proteomic databases

MaxQBQ8N3Y7.
PaxDbQ8N3Y7.
PRIDEQ8N3Y7.

Protocols and materials databases

DNASU195814.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000303749; ENSP00000307607; ENSG00000170786. [Q8N3Y7-1]
ENST00000396721; ENSP00000379947; ENSG00000170786. [Q8N3Y7-2]
GeneID195814.
KEGGhsa:195814.
UCSCuc003xsy.1. human. [Q8N3Y7-1]
uc010lyl.1. human. [Q8N3Y7-2]

Organism-specific databases

CTD195814.
GeneCardsGC08M057212.
H-InvDBHIX0007518.
HGNCHGNC:30311. SDR16C5.
HPAHPA025224.
MIM608989. gene.
neXtProtNX_Q8N3Y7.
PharmGKBPA164725585.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1028.
HOVERGENHBG051352.
InParanoidQ8N3Y7.
KOK15734.
OMANFLDCPD.
OrthoDBEOG7Z3F50.
PhylomeDBQ8N3Y7.
TreeFamTF312837.

Enzyme and pathway databases

BioCycMetaCyc:ENSG00000170786-MONOMER.
UniPathwayUPA00912.

Gene expression databases

ArrayExpressQ8N3Y7.
BgeeQ8N3Y7.
GenevestigatorQ8N3Y7.

Family and domain databases

Gene3D3.40.50.720. 1 hit.
InterProIPR002198. DH_sc/Rdtase_SDR.
IPR002347. Glc/ribitol_DH.
IPR016040. NAD(P)-bd_dom.
[Graphical view]
PfamPF00106. adh_short. 1 hit.
[Graphical view]
PRINTSPR00081. GDHRDH.
PR00080. SDRFAMILY.
ProtoNetSearch...

Other

GenomeRNAi195814.
NextBio89389.
PROQ8N3Y7.
SOURCESearch...

Entry information

Entry nameRDHE2_HUMAN
AccessionPrimary (citable) accession number: Q8N3Y7
Secondary accession number(s): B4DGK2 expand/collapse secondary AC list , Q330K3, Q8TDV9, Q96LX1
Entry history
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: March 1, 2004
Last modified: July 9, 2014
This is version 98 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM