LOCUS       NM_015725               1481 bp    mRNA    linear   PRI 02-AUG-2024
DEFINITION  Homo sapiens retinol dehydrogenase 8 (RDH8), mRNA.
ACCESSION   NM_015725
VERSION     NM_015725.4
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 1481)
  AUTHORS   Zampatti,S., Peconi,C., Calvino,G., Ferese,R., Gambardella,S.,
            Cascella,R., Sebastiani,J., Falsini,B., Cusumano,A. and Giardina,E.
  TITLE     A Splicing Variant in RDH8 Is Associated with Autosomal Recessive
            Stargardt Macular Dystrophy
  JOURNAL   Genes (Basel) 14 (8), 1659 (2023)
   PUBMED   37628710
  REMARK    GeneRIF: A Splicing Variant in RDH8 Is Associated with Autosomal
            Recessive Stargardt Macular Dystrophy.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1481)
  AUTHORS   Jiang,W., Wang,X., Li,R., Wang,P., Shan,G., Jia,X. and Gu,M.
  TITLE     Targeted capture sequencing identifies genetic variations of GRK4
            and RDH8 in Han Chinese with essential hypertension in Xinjiang
  JOURNAL   PLoS One 16 (7), e0255311 (2021)
   PUBMED   34297769
  REMARK    GeneRIF: Targeted capture sequencing identifies genetic variations
            of GRK4 and RDH8 in Han Chinese with essential hypertension in
            Xinjiang.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1481)
  AUTHORS   Perry,J.R., Day,F., Elks,C.E., Sulem,P., Thompson,D.J.,
            Ferreira,T., He,C., Chasman,D.I., Esko,T., Thorleifsson,G.,
            Albrecht,E., Ang,W.Q., Corre,T., Cousminer,D.L., Feenstra,B.,
            Franceschini,N., Ganna,A., Johnson,A.D., Kjellqvist,S.,
            Lunetta,K.L., McMahon,G., Nolte,I.M., Paternoster,L., Porcu,E.,
            Smith,A.V., Stolk,L., Teumer,A., Tsernikova,N., Tikkanen,E.,
            Ulivi,S., Wagner,E.K., Amin,N., Bierut,L.J., Byrne,E.M.,
            Hottenga,J.J., Koller,D.L., Mangino,M., Pers,T.H.,
            Yerges-Armstrong,L.M., Zhao,J.H., Andrulis,I.L., Anton-Culver,H.,
            Atsma,F., Bandinelli,S., Beckmann,M.W., Benitez,J., Blomqvist,C.,
            Bojesen,S.E., Bolla,M.K., Bonanni,B., Brauch,H., Brenner,H.,
            Buring,J.E., Chang-Claude,J., Chanock,S., Chen,J.,
            Chenevix-Trench,G., Collee,J.M., Couch,F.J., Couper,D.,
            Coveillo,A.D., Cox,A., Czene,K., D'adamo,A.P., Smith,G.D., De
            Vivo,I., Demerath,E.W., Dennis,J., Devilee,P., Dieffenbach,A.K.,
            Dunning,A.M., Eiriksdottir,G., Eriksson,J.G., Fasching,P.A.,
            Ferrucci,L., Flesch-Janys,D., Flyger,H., Foroud,T., Franke,L.,
            Garcia,M.E., Garcia-Closas,M., Geller,F., de Geus,E.E., Giles,G.G.,
            Gudbjartsson,D.F., Gudnason,V., Guenel,P., Guo,S., Hall,P.,
            Hamann,U., Haring,R., Hartman,C.A., Heath,A.C., Hofman,A.,
            Hooning,M.J., Hopper,J.L., Hu,F.B., Hunter,D.J., Karasik,D.,
            Kiel,D.P., Knight,J.A., Kosma,V.M., Kutalik,Z., Lai,S.,
            Lambrechts,D., Lindblom,A., Magi,R., Magnusson,P.K., Mannermaa,A.,
            Martin,N.G., Masson,G., McArdle,P.F., McArdle,W.L., Melbye,M.,
            Michailidou,K., Mihailov,E., Milani,L., Milne,R.L., Nevanlinna,H.,
            Neven,P., Nohr,E.A., Oldehinkel,A.J., Oostra,B.A., Palotie,A.,
            Peacock,M., Pedersen,N.L., Peterlongo,P., Peto,J., Pharoah,P.D.,
            Postma,D.S., Pouta,A., Pylkas,K., Radice,P., Ring,S.,
            Rivadeneira,F., Robino,A., Rose,L.M., Rudolph,A., Salomaa,V.,
            Sanna,S., Schlessinger,D., Schmidt,M.K., Southey,M.C., Sovio,U.,
            Stampfer,M.J., Stockl,D., Storniolo,A.M., Timpson,N.J., Tyrer,J.,
            Visser,J.A., Vollenweider,P., Volzke,H., Waeber,G.,
            Waldenberger,M., Wallaschofski,H., Wang,Q., Willemsen,G.,
            Winqvist,R., Wolffenbuttel,B.H., Wright,M.J., Boomsma,D.I.,
            Econs,M.J., Khaw,K.T., Loos,R.J., McCarthy,M.I., Montgomery,G.W.,
            Rice,J.P., Streeten,E.A., Thorsteinsdottir,U., van Duijn,C.M.,
            Alizadeh,B.Z., Bergmann,S., Boerwinkle,E., Boyd,H.A., Crisponi,L.,
            Gasparini,P., Gieger,C., Harris,T.B., Ingelsson,E., Jarvelin,M.R.,
            Kraft,P., Lawlor,D., Metspalu,A., Pennell,C.E., Ridker,P.M.,
            Snieder,H., Sorensen,T.I., Spector,T.D., Strachan,D.P.,
            Uitterlinden,A.G., Wareham,N.J., Widen,E., Zygmunt,M., Murray,A.,
            Easton,D.F., Stefansson,K., Murabito,J.M. and Ong,K.K.
  CONSRTM   Australian Ovarian Cancer Study; GENICA Network; kConFab; LifeLines
            Cohort Study; InterAct Consortium; Early Growth Genetics (EGG)
            Consortium
  TITLE     Parent-of-origin-specific allelic associations among 106 genomic
            loci for age at menarche
  JOURNAL   Nature 514 (7520), 92-97 (2014)
   PUBMED   25231870
REFERENCE   4  (bases 1 to 1481)
  AUTHORS   Okano,K., Maeda,A., Chen,Y., Chauhan,V., Tang,J., Palczewska,G.,
            Sakai,T., Tsuneoka,H., Palczewski,K. and Maeda,T.
  TITLE     Retinal cone and rod photoreceptor cells exhibit differential
            susceptibility to light-induced damage
  JOURNAL   J Neurochem 121 (1), 146-156 (2012)
   PUBMED   22220722
  REMARK    GeneRIF: Progression of retinal degeneration in Rdh8-deficient
            Abca4-deficient mice is affected by differential vulnerability of
            rods and cones to light.
REFERENCE   5  (bases 1 to 1481)
  AUTHORS   Yu,Y.S., Wang,L.L., Shen,Y., Yap,M.K., Yip,S.P. and Han,W.
  TITLE     Investigation of the association between all-trans-retinol
            dehydrogenase (RDH8) polymorphisms and high myopia in Chinese
  JOURNAL   J Zhejiang Univ Sci B 11 (11), 836-841 (2010)
   PUBMED   21043051
  REMARK    GeneRIF: Our family- and population-based data both suggest that
            the RDH8 gene is unlikely to be associated with high myopia in
            Chinese
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 1481)
  AUTHORS   Luo,W., Marsh-Armstrong,N., Rattner,A. and Nathans,J.
  TITLE     An outer segment localization signal at the C terminus of the
            photoreceptor-specific retinol dehydrogenase
  JOURNAL   J Neurosci 24 (11), 2623-2632 (2004)
   PUBMED   15028754
REFERENCE   7  (bases 1 to 1481)
  AUTHORS   Haeseleer,F., Jang,G.F., Imanishi,Y., Driessen,C.A.G.G.,
            Matsumura,M., Nelson,P.S. and Palczewski,K.
  TITLE     Dual-substrate specificity short chain retinol dehydrogenases from
            the vertebrate retina
  JOURNAL   J Biol Chem 277 (47), 45537-45546 (2002)
   PUBMED   12226107
REFERENCE   8  (bases 1 to 1481)
  AUTHORS   Rando,R.R.
  TITLE     The biochemistry of the visual cycle
  JOURNAL   Chem Rev 101 (7), 1881-1896 (2001)
   PUBMED   11710234
  REMARK    Review article
REFERENCE   9  (bases 1 to 1481)
  AUTHORS   Rattner,A., Smallwood,P.M. and Nathans,J.
  TITLE     Identification and characterization of all-trans-retinol
            dehydrogenase from photoreceptor outer segments, the visual cycle
            enzyme that reduces all-trans-retinal to all-trans-retinol
  JOURNAL   J Biol Chem 275 (15), 11034-11043 (2000)
   PUBMED   10753906
REFERENCE   10 (bases 1 to 1481)
  AUTHORS   Saari,J.C., Garwin,G.G., Van Hooser,J.P. and Palczewski,K.
  TITLE     Reduction of all-trans-retinal limits regeneration of visual
            pigment in mice
  JOURNAL   Vision Res 38 (10), 1325-1333 (1998)
   PUBMED   9667000
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF229845.1, AK024022.1 and
            AC008742.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_015725.3.
            
            Summary: This gene encodes a member of the short-chain
            dehydrogenase/reductase family. The encoded protein catalyzes the
            reduction of all-trans-retinal to all-trans-retinol, the first
            reaction step of the rhodopsin regeneration pathway. This enzymatic
            reaction is the rate-limiting step in the visual cycle. [provided
            by RefSeq, Feb 2014].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK024022.1, AF229845.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000591589.3/ ENSP00000466058.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1099              AF229845.1         235-1333
            1100-1104           AK024022.1         1099-1103
            1105-1480           AF229845.1         1339-1714
            1481-1481           AC008742.9         189719-189719
FEATURES             Location/Qualifiers
     source          1..1481
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..1481
                     /gene="RDH8"
                     /gene_synonym="PRRDH; SDR28C2"
                     /note="retinol dehydrogenase 8"
                     /db_xref="GeneID:50700"
                     /db_xref="HGNC:HGNC:14423"
                     /db_xref="MIM:608575"
     exon            1..118
                     /gene="RDH8"
                     /gene_synonym="PRRDH; SDR28C2"
                     /inference="alignment:Splign:2.1.0"
     CDS             16..951
                     /gene="RDH8"
                     /gene_synonym="PRRDH; SDR28C2"
                     /EC_number="1.1.1.300"
                     /note="photoreceptor outer segment all-trans retinol
                     dehydrogenase; short chain dehydrogenase/reductase family
                     28C member 2; retinol dehydrogenase 8 (all-trans)"
                     /codon_start=1
                     /product="retinol dehydrogenase 8"
                     /protein_id="NP_056540.3"
                     /db_xref="CCDS:CCDS12223.3"
                     /db_xref="GeneID:50700"
                     /db_xref="HGNC:HGNC:14423"
                     /db_xref="MIM:608575"
                     /translation="MAAAPRTVLISGCSSGIGLELAVQLAHDPKKRYQVVATMRDLGK
                     KETLEAAAGEALGQTLTVAQLDVCSDESVAQCLSCIQGEVDVLVNNAGMGLVGPLEGL
                     SLAAMQNVFDTNFFGAVRLVKAVLPGMKRRRQGHIVVISSVMGLQGVIFNDVYAASKF
                     ALEGFFESLAIQLLQFNIFISLVEPGPVVTEFEGKLLAQVSMAEFPGTDPETLHYFRD
                     LYLPASRKLFCSVGQNPQDVVQAIVNVISSTRPPLRRQTNIRYSPLTTLKTVDSSGSL
                     YVRTTHRLLFRCPRLLNLGLQCLSCGCLPTRVRPR"
     exon            119..277
                     /gene="RDH8"
                     /gene_synonym="PRRDH; SDR28C2"
                     /inference="alignment:Splign:2.1.0"
     exon            278..457
                     /gene="RDH8"
                     /gene_synonym="PRRDH; SDR28C2"
                     /inference="alignment:Splign:2.1.0"
     exon            458..551
                     /gene="RDH8"
                     /gene_synonym="PRRDH; SDR28C2"
                     /inference="alignment:Splign:2.1.0"
     exon            552..735
                     /gene="RDH8"
                     /gene_synonym="PRRDH; SDR28C2"
                     /inference="alignment:Splign:2.1.0"
     exon            736..1481
                     /gene="RDH8"
                     /gene_synonym="PRRDH; SDR28C2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1461..1466
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RDH8"
                     /gene_synonym="PRRDH; SDR28C2"
                     /note="hexamer: AATATA"
     polyA_site      1481
                     /gene="RDH8"
                     /gene_synonym="PRRDH; SDR28C2"
                     /note="major polyA site"
ORIGIN      
        1 agggagggga tcaacatggc cgctgcaccc cggactgtgt tgatctccgg ctgctcatca
       61 ggaattggtc tggaacttgc agtgcaactg gcccatgacc ccaagaagcg ctaccaggtc
      121 gtggccacca tgagggacct ggggaagaag gagacactgg aggcagctgc tggggaggct
      181 ctggggcaga ccctcaccgt ggcccagctg gacgtgtgca gtgatgagtc ggtggcccag
      241 tgtctcagct gtatccaggg agaagtggac gtgctggtga ataatgctgg aatgggcctg
      301 gtggggcccc tggaggggct cagccttgct gccatgcaga atgtctttga caccaacttt
      361 ttcggagctg tccgtctcgt caaagctgtg cttccaggca tgaagaggag gcggcagggc
      421 cacatcgtgg tgatcagcag tgtcatgggc ctgcagggtg tcatcttcaa cgatgtctat
      481 gcagcttcca agttcgccct ggagggattc ttcgaaagcc tcgctatcca gctgctgcag
      541 ttcaacatct tcatctccct ggtggagcca ggccccgtgg tcaccgagtt tgaggggaag
      601 cttctggcgc aggtttctat ggctgagttc ccaggcactg accctgagac cctgcactac
      661 ttccgggacc tctatctccc agcctccagg aagctgtttt gctccgtggg acagaaccca
      721 caggacgtgg ttcaggccat tgtcaacgtc atcagctcga ctcgaccacc cctgcgccga
      781 cagaccaaca tccgctactc gccgctgacc acgctcaaaa ccgtggattc ctctggcagc
      841 ctgtatgtgc gaacgaccca ccgcctcctc ttccgctgtc cacgcctcct caaccttggc
      901 cttcaatgtc tgtcctgcgg ctgcctccca acgcgggtgc ggccaagatg agcagaacag
      961 agcttcacga tccccatccc tgaacaacca gacctcttca ttccacatct aattcaaagg
     1021 atgaacagac tcttcattta ttcattctgc aaactccccc tcccctcctc tgtgcctaga
     1081 catggctaga atcccagaag ggcctttatt ttcaggcata gactcctctg tggtcacagc
     1141 tggagcacag agagggaccc tgggaacttg gcctgggaag cccagagcag gaagccacag
     1201 ctgtctctgg gaaagcaagg gaggcttcct ggaggaagcg gcattgttat gagccttgaa
     1261 ggaagagaca gactctgcta cattcaacct cgtgacttca tgatcctggg cctgagaaca
     1321 caggaatgat tcatagccca ccccccacct ccatgcatac accagagctc tgtggaccaa
     1381 ggggtcattc ctggtcacac actccatcag caaaatgtat ttgagcacac accagcaatg
     1441 tatgtatatt ttttccatta aatatatatt tataaccaca a
//
