LOCUS       NP_620419                309 aa            linear   PRI 30-APR-2025
DEFINITION  epidermal retinol dehydrogenase 2 isoform 2 [Homo sapiens].
ACCESSION   NP_620419
VERSION     NP_620419.2
DBSOURCE    REFSEQ: accession NM_138969.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 309)
  AUTHORS   Randen-Brady,R., Carpen,T., Hautala,L.C., Tolvanen,T., Haglund,C.,
            Joenvaara,S., Mattila,P., Makitie,A., Lehtonen,S., Hagstrom,J. and
            Silen,S.
  TITLE     LRG1 and SDR16C5 protein expressions differ according to HPV status
            in oropharyngeal squamous cell carcinoma
  JOURNAL   Sci Rep 14 (1), 14148 (2024)
   PUBMED   38898137
  REMARK    GeneRIF: LRG1 and SDR16C5 protein expressions differ according to
            HPV status in oropharyngeal squamous cell carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 309)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 309)
  AUTHORS   Takahashi,Y., Moiseyev,G., Farjo,K. and Ma,J.X.
  TITLE     Characterization of key residues and membrane association domains
            in retinol dehydrogenase 10
  JOURNAL   Biochem J 419 (1), 113-122 (2009)
   PUBMED   19102727
REFERENCE   4  (residues 1 to 309)
  AUTHORS   Lee,S.A., Belyaeva,O.V. and Kedishvili,N.Y.
  TITLE     Biochemical characterization of human epidermal retinol
            dehydrogenase 2
  JOURNAL   Chem Biol Interact 178 (1-3), 182-187 (2009)
   PUBMED   18926804
REFERENCE   5  (residues 1 to 309)
  AUTHORS   Gudbjartsson,D.F., Walters,G.B., Thorleifsson,G., Stefansson,H.,
            Halldorsson,B.V., Zusmanovich,P., Sulem,P., Thorlacius,S.,
            Gylfason,A., Steinberg,S., Helgadottir,A., Ingason,A.,
            Steinthorsdottir,V., Olafsdottir,E.J., Olafsdottir,G.H.,
            Jonsson,T., Borch-Johnsen,K., Hansen,T., Andersen,G., Jorgensen,T.,
            Pedersen,O., Aben,K.K., Witjes,J.A., Swinkels,D.W., den Heijer,M.,
            Franke,B., Verbeek,A.L., Becker,D.M., Yanek,L.R., Becker,L.C.,
            Tryggvadottir,L., Rafnar,T., Gulcher,J., Kiemeney,L.A., Kong,A.,
            Thorsteinsdottir,U. and Stefansson,K.
  TITLE     Many sequence variants affecting diversity of adult human height
  JOURNAL   Nat Genet 40 (5), 609-615 (2008)
   PUBMED   18391951
REFERENCE   6  (residues 1 to 309)
  AUTHORS   Lettre,G., Jackson,A.U., Gieger,C., Schumacher,F.R., Berndt,S.I.,
            Sanna,S., Eyheramendy,S., Voight,B.F., Butler,J.L., Guiducci,C.,
            Illig,T., Hackett,R., Heid,I.M., Jacobs,K.B., Lyssenko,V., Uda,M.,
            Boehnke,M., Chanock,S.J., Groop,L.C., Hu,F.B., Isomaa,B., Kraft,P.,
            Peltonen,L., Salomaa,V., Schlessinger,D., Hunter,D.J., Hayes,R.B.,
            Abecasis,G.R., Wichmann,H.E., Mohlke,K.L. and Hirschhorn,J.N.
  CONSRTM   Diabetes Genetics Initiative; FUSION; KORA; Prostate, Lung
            Colorectal and Ovarian Cancer Screening Trial; Nurses' Health
            Study; SardiNIA
  TITLE     Identification of ten loci associated with height highlights new
            biological pathways in human growth
  JOURNAL   Nat Genet 40 (5), 584-591 (2008)
   PUBMED   18391950
REFERENCE   7  (residues 1 to 309)
  AUTHORS   Markova,N.G., Pinkas-Sarafova,A. and Simon,M.
  TITLE     A metabolic enzyme of the short-chain dehydrogenase/reductase
            superfamily may moonlight in the nucleus as a repressor of promoter
            activity
  JOURNAL   J Invest Dermatol 126 (9), 2019-2031 (2006)
   PUBMED   16691198
REFERENCE   8  (residues 1 to 309)
  AUTHORS   Matsuzaka,Y., Okamoto,K., Yoshikawa,Y., Takaki,A., Oka,A.,
            Mabuchi,T., Iizuka,M., Ozawa,A., Tamiya,G., Kulski,J.K. and
            Inoko,H.
  TITLE     hRDH-E2 gene polymorphisms, variable transcriptional start sites,
            and psoriasis
  JOURNAL   Mamm Genome 15 (8), 668-675 (2004)
   PUBMED   15457346
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (residues 1 to 309)
  AUTHORS   Wu,B.X., Chen,Y., Chen,Y., Fan,J., Rohrer,B., Crouch,R.K. and
            Ma,J.X.
  TITLE     Cloning and characterization of a novel all-trans retinol
            short-chain dehydrogenase/reductase from the RPE
  JOURNAL   Invest Ophthalmol Vis Sci 43 (11), 3365-3372 (2002)
   PUBMED   12407145
REFERENCE   10 (residues 1 to 309)
  AUTHORS   Matsuzaka,Y., Okamoto,K., Tsuji,H., Mabuchi,T., Ozawa,A., Tamiya,G.
            and Inoko,H.
  TITLE     Identification of the hRDH-E2 gene, a novel member of the SDR
            family, and its increased expression in psoriatic lesion
  JOURNAL   Biochem Biophys Res Commun 297 (5), 1171-1180 (2002)
   PUBMED   12372410
  REMARK    GeneRIF: mapped to chromosome 8; may be involved in the
            pathogenesis of psoriasis through its critical role in retinol
            metabolism in keratinocyte proliferation
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC103849.3.
            
            On Jan 13, 2004 this sequence version replaced NP_620419.1.
            
            Summary: This gene encodes a member of the short-chain alcohol
            dehydrogenase/reductase superfamily of proteins and is involved in
            the oxidation of retinol to retinaldehyde. The encoded protein is
            associated with the endoplasmic reticulum and is predicted to
            contain three transmembrane helices, suggesting that it is an
            integral membrane protein. It recognizes all-trans-retinol and
            all-trans-retinaldehyde as substrates and exhibits a strong
            preference for NAD(+)/NADH as cofactors. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Dec
            2015].
            
            Transcript Variant: This variant (2) lacks an alternate exon in the
            3' coding region compared to variant 1. It encodes isoform 2, which
            is shorter than and has a distinct C-terminus compared to isoform
            1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC064525.1, AK057667.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000303749.8/ ENSP00000307607.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..309
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.1"
     Protein         1..309
                     /product="epidermal retinol dehydrogenase 2 isoform 2"
                     /EC_number="1.1.1.105"
                     /note="epidermal retinol dehydrogenase 2; epidermal
                     retinal dehydrogenase 2; retinal short chain dehydrogenase
                     reductase; retinal short-chain dehydrogenase reductase 2"
                     /calculated_mol_wt=33964
     Site            11..31
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N3Y7.2)"
     Region          42..284
                     /region_name="17beta-HSDXI-like_SDR_c"
                     /note="human 17-beta-hydroxysteroid dehydrogenase XI-like,
                     classical (c) SDRs; cd05339"
                     /db_xref="CDD:187598"
     Site            order(47,49..52,71..73,97..99,125..127,148,175..177,190,
                     194,223..226,228..229)
                     /site_type="other"
                     /note="putative NAD(P) binding site [chemical binding]"
                     /db_xref="CDD:187598"
     Site            order(102,106,138..139,142..143,146,150..151,154..155,158,
                     187..189,191..192,195..196,199..200,202..204,206..207,
                     229..231,273..274,277,281)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:187598"
     Site            order(149,177,190,194)
                     /site_type="active"
                     /db_xref="CDD:187598"
     Site            order(158,161,204,207,213)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:187598"
     Site            270..290
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N3Y7.2)"
     CDS             1..309
                     /gene="SDR16C5"
                     /gene_synonym="EPHD-2; RDH#2; RDH-E2; RDHE2; retSDR2"
                     /coded_by="NM_138969.4:132..1061"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS6167.1"
                     /db_xref="GeneID:195814"
                     /db_xref="HGNC:HGNC:30311"
                     /db_xref="MIM:608989"
ORIGIN      
        1 msfnlqsskk lfiflgkslf slleamifal lpkprknvag eivlitgags glgrllalqf
       61 arlgsvlvlw dinkegneet ckmareagat rvhaytcdcs qkegvyrvad qvkkevgdvs
      121 ilinnagivt gkkfldcpde lmeksfdvnf kahlwtykaf lpamiandhg hlvcisssag
      181 lsgvnglady caskfaafgf aesvfvetfv qkqkgiktti vcpffiktgm fegcttgcps
      241 llpilepkya vekiveailq ekmylympkl lyfmmflksf lplktgllia dylgilhamd
      301 gfvdqkkkl
//
