LOCUS       NM_138969               2536 bp    mRNA    linear   PRI 09-JUL-2024
DEFINITION  Homo sapiens short chain dehydrogenase/reductase family 16C member
            5 (SDR16C5), transcript variant 2, mRNA.
ACCESSION   NM_138969
VERSION     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  (bases 1 to 2536)
  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  (bases 1 to 2536)
  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  (bases 1 to 2536)
  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  (bases 1 to 2536)
  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  (bases 1 to 2536)
  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  (bases 1 to 2536)
  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  (bases 1 to 2536)
  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  (bases 1 to 2536)
  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  (bases 1 to 2536)
  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 (bases 1 to 2536)
  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 Aug 11, 2020 this sequence version replaced NM_138969.3.
            
            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##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-117               AC103849.3         92894-93010         c
            118-464             AC103849.3         88850-89196         c
            465-596             AC103849.3         84992-85123         c
            597-696             AC103849.3         81763-81862         c
            697-841             AC103849.3         79511-79655         c
            842-967             AC103849.3         78432-78557         c
            968-2536            AC103849.3         72840-74408         c
FEATURES             Location/Qualifiers
     source          1..2536
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.1"
     gene            1..2536
                     /gene="SDR16C5"
                     /gene_synonym="EPHD-2; RDH#2; RDH-E2; RDHE2; retSDR2"
                     /note="short chain dehydrogenase/reductase family 16C
                     member 5"
                     /db_xref="GeneID:195814"
                     /db_xref="HGNC:HGNC:30311"
                     /db_xref="MIM:608989"
     exon            1..117
                     /gene="SDR16C5"
                     /gene_synonym="EPHD-2; RDH#2; RDH-E2; RDHE2; retSDR2"
                     /inference="alignment:Splign:2.1.0"
     exon            118..464
                     /gene="SDR16C5"
                     /gene_synonym="EPHD-2; RDH#2; RDH-E2; RDHE2; retSDR2"
                     /inference="alignment:Splign:2.1.0"
     CDS             132..1061
                     /gene="SDR16C5"
                     /gene_synonym="EPHD-2; RDH#2; RDH-E2; RDHE2; retSDR2"
                     /EC_number="1.1.1.105"
                     /note="isoform 2 is encoded by transcript variant 2;
                     epidermal retinol dehydrogenase 2; epidermal retinal
                     dehydrogenase 2; retinal short chain dehydrogenase
                     reductase; retinal short-chain dehydrogenase reductase 2"
                     /codon_start=1
                     /product="epidermal retinol dehydrogenase 2 isoform 2"
                     /protein_id="NP_620419.2"
                     /db_xref="CCDS:CCDS6167.1"
                     /db_xref="GeneID:195814"
                     /db_xref="HGNC:HGNC:30311"
                     /db_xref="MIM:608989"
                     /translation="MSFNLQSSKKLFIFLGKSLFSLLEAMIFALLPKPRKNVAGEIVL
                     ITGAGSGLGRLLALQFARLGSVLVLWDINKEGNEETCKMAREAGATRVHAYTCDCSQK
                     EGVYRVADQVKKEVGDVSILINNAGIVTGKKFLDCPDELMEKSFDVNFKAHLWTYKAF
                     LPAMIANDHGHLVCISSSAGLSGVNGLADYCASKFAAFGFAESVFVETFVQKQKGIKT
                     TIVCPFFIKTGMFEGCTTGCPSLLPILEPKYAVEKIVEAILQEKMYLYMPKLLYFMMF
                     LKSFLPLKTGLLIADYLGILHAMDGFVDQKKKL"
     exon            465..596
                     /gene="SDR16C5"
                     /gene_synonym="EPHD-2; RDH#2; RDH-E2; RDHE2; retSDR2"
                     /inference="alignment:Splign:2.1.0"
     exon            597..696
                     /gene="SDR16C5"
                     /gene_synonym="EPHD-2; RDH#2; RDH-E2; RDHE2; retSDR2"
                     /inference="alignment:Splign:2.1.0"
     exon            697..841
                     /gene="SDR16C5"
                     /gene_synonym="EPHD-2; RDH#2; RDH-E2; RDHE2; retSDR2"
                     /inference="alignment:Splign:2.1.0"
     exon            842..967
                     /gene="SDR16C5"
                     /gene_synonym="EPHD-2; RDH#2; RDH-E2; RDHE2; retSDR2"
                     /inference="alignment:Splign:2.1.0"
     exon            968..2536
                     /gene="SDR16C5"
                     /gene_synonym="EPHD-2; RDH#2; RDH-E2; RDHE2; retSDR2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1222..1227
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SDR16C5"
                     /gene_synonym="EPHD-2; RDH#2; RDH-E2; RDHE2; retSDR2"
                     /note="hexamer: AATAAT"
     polyA_site      1241
                     /gene="SDR16C5"
                     /gene_synonym="EPHD-2; RDH#2; RDH-E2; RDHE2; retSDR2"
                     /note="major polyA site"
     regulatory      1285..1290
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SDR16C5"
                     /gene_synonym="EPHD-2; RDH#2; RDH-E2; RDHE2; retSDR2"
                     /note="hexamer: AATAAA"
     polyA_site      1317
                     /gene="SDR16C5"
                     /gene_synonym="EPHD-2; RDH#2; RDH-E2; RDHE2; retSDR2"
     regulatory      2450..2455
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SDR16C5"
                     /gene_synonym="EPHD-2; RDH#2; RDH-E2; RDHE2; retSDR2"
                     /note="hexamer: ATTAAA"
     polyA_site      2473
                     /gene="SDR16C5"
                     /gene_synonym="EPHD-2; RDH#2; RDH-E2; RDHE2; retSDR2"
     regulatory      2511..2516
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SDR16C5"
                     /gene_synonym="EPHD-2; RDH#2; RDH-E2; RDHE2; retSDR2"
                     /note="hexamer: AATAAA"
     polyA_site      2536
                     /gene="SDR16C5"
                     /gene_synonym="EPHD-2; RDH#2; RDH-E2; RDHE2; retSDR2"
ORIGIN      
        1 ggacttgggc ggcgcctgga taaacacctg aacctgactg agctccgagc cagggactcg
       61 ggtgcctggg gcagacgagg ccggcttctc cgcggacagc tagggagagt gtcctgggtg
      121 tcagccagaa catgtctttc aacctgcaat catcaaagaa actgttcatt ttcttaggaa
      181 aatcactgtt tagtcttctg gaggctatga tttttgcctt actcccaaag ccacggaaga
      241 acgttgctgg tgaaatagtc ctcatcacag gtgctggaag tggactcgga aggctcttag
      301 ccttgcagtt tgcccggctg ggatctgttc ttgttctctg ggatatcaat aaggagggga
      361 atgaggaaac atgtaagatg gctcgggaag ctggagccac aagagtgcac gcctatacct
      421 gcgattgcag ccaaaaggaa ggagtgtata gagtagccga ccaggttaaa aaagaagtcg
      481 gcgatgtttc catcctaatc aacaatgccg gaatcgtaac aggcaaaaag ttccttgact
      541 gtccagatga gcttatggaa aagtcatttg atgtgaattt caaagcacat ttatggactt
      601 ataaagcctt tctacctgct atgattgcta atgaccatgg acatttggtt tgcatttcaa
      661 gttcagctgg attaagtgga gtaaatgggc tggcagatta ctgtgcaagt aaatttgcag
      721 cctttgggtt tgctgaatct gtatttgtag aaacatttgt ccaaaaacaa aaggggatca
      781 aaaccacgat tgtgtgcccc ttttttataa aaactggaat gtttgaaggt tgtactacag
      841 gctgtccttc tctgttgcca attctggaac caaaatatgc agttgaaaaa atagtagaag
      901 ctattctaca agaaaaaatg tacttgtata tgccaaagtt gttatacttc atgatgtttc
      961 ttaaaagctt tttgcccctc aagacaggac tgcttatagc tgactatttg ggcatccttc
     1021 atgcaatgga tggctttgtt gaccaaaaga agaagctcta aagaccaact ctatggctaa
     1081 ggtcatctga tacacagtgt tacataatgc gtacttcaat gaagaaaagt atttttgtct
     1141 gacagtggaa tatatctgga gaccacaagt accactccta ttctgttatc tggactagaa
     1201 ttttcaatca atgtgtttga aaataatgtt gctatcacct atttggttga gttttggttt
     1261 tttctttttc tttttttttc caaaaataaa gacagcccat ttttgtcatt tccattacca
     1321 cagatgtaag aaagtgataa gccatggcca tgagctgccc tgagctttgg tcgttgggga
     1381 ggtggctcaa atggagccag cggctgtggt tgacctgcct tggggagcag ggctgagggg
     1441 cgaagaggac atgtggatat ccagccagaa tgccctctct ccagaggaca cacagctctg
     1501 gatttctacc cccttgctat cctctctggc cattttgaac ctgtaccacc taatgtagaa
     1561 aaggcccgcc tccagtgccc ttctttccaa aacagctaca caaatgcttc tgaatgccct
     1621 ggatacgcag accgagtggc agtctggcta aaggcccatc cagcactatt gtgcccaaga
     1681 gccttaccgg gcattccctg aagccccctc ataggcagtg atcctagacc aaactcttaa
     1741 atagaatcac ttttgtttcc tagaagagat caaagagtgg ttgcttctta ctttgaagat
     1801 gaaattatac caagttaggt tttttgctat ctattgatcc aaaaaatata ttcgtgcaat
     1861 taaagttaag tgttcaactt agtatttcaa gttgggattc aggttgaggc attttcctgc
     1921 agaatgggca attttatgca tttatattca tcagtgctgc cctcactttg gatctattgt
     1981 attcttacag tttaatcaac tggcaaagtg ctttcatgct ttggagatta actataaaag
     2041 caagattaag aaaaatatgt taattaccat atccctggaa ctccttctca ggctggtggg
     2101 ggcagccttg caagagaaac agcagccttt gtctcttccc tcttgtgggg agcaaggagg
     2161 ggatgagcgg taccttggga gacccggtaa aagtctaaag aattgagaat ttgactatct
     2221 tgggggtaaa atgctgtcat aggggcagca gtctcagggg gtgtaaactc tggaatccac
     2281 tatggtttac cttgagtggc ctgcacgaac atgacagccc tgatctgtat ttcctttcca
     2341 ttcagaaaac cttaaaaaaa aaaaacttgt tttatgataa tattataaca atcataacta
     2401 acatttactg tgcccggcag caaattaagt atttgacaaa cattatttca ttaaacgaga
     2461 ctgtcaatca ttactcaaag aatgatgaag gtatttggtg tatgccaaag aataaaggcg
     2521 ttttatttca cagtga
//
