Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q8N3Y7

- RDHE2_HUMAN

UniProt

Q8N3Y7 - RDHE2_HUMAN

Protein

Epidermal retinol dehydrogenase 2

Gene

SDR16C5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 2 (01 Mar 2004)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    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

    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

    ArrayExpressiQ8N3Y7.
    BgeeiQ8N3Y7.
    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 35-281.
    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.
    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

    MSFNLQSSKK LFIFLGKSLF SLLEAMIFAL LPKPRKNVAG EIVLITGAGS    50
    GLGRLLALQF ARLGSVLVLW DINKEGNEET CKMAREAGAT RVHAYTCDCS 100
    QKEGVYRVAD QVKKEVGDVS ILINNAGIVT GKKFLDCPDE LMEKSFDVNF 150
    KAHLWTYKAF LPAMIANDHG HLVCISSSAG LSGVNGLADY CASKFAAFGF 200
    AESVFVETFV QKQKGIKTTI VCPFFIKTGM FEGCTTGCPS LLPILEPKYA 250
    VEKIVEAILQ EKMYLYMPKL LYFMMFLKSF LPLKTGLLIA DYLGILHAMD 300
    GFVDQKKKL 309
    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 35-281.
    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.
    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

    ArrayExpressi Q8N3Y7.
    Bgeei Q8N3Y7.
    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

    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 1, 2014
    This is version 99 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