LOCUS       NM_002905               1274 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens retinol dehydrogenase 5 (RDH5), transcript variant 2,
            mRNA.
ACCESSION   NM_002905
VERSION     NM_002905.5
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 1274)
  AUTHORS   Qian,T., Gong,Q., Shen,H., Li,C., Wang,G., Xu,X., Schrauwen,I. and
            Wang,W.
  TITLE     Novel variants in the RDH5 Gene in a Chinese Han family with fundus
            albipunctatus
  JOURNAL   BMC Ophthalmol 22 (1), 69 (2022)
   PUBMED   35148716
  REMARK    GeneRIF: Novel variants in the RDH5 Gene in a Chinese Han family
            with fundus albipunctatus.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1274)
  AUTHORS   Sparrow,J.R., Parmann,R., Tsang,S.H., Allikmets,R., Chang,S. and
            Jauregui,R.
  TITLE     Shared Features in Retinal Disorders With Involvement of Retinal
            Pigment Epithelium
  JOURNAL   Invest Ophthalmol Vis Sci 62 (7), 15 (2021)
   PUBMED   34115091
  REMARK    GeneRIF: Shared Features in Retinal Disorders With Involvement of
            Retinal Pigment Epithelium.
REFERENCE   3  (bases 1 to 1274)
  AUTHORS   Hu,H., Xu,L., Luo,S.J., Xiang,T., Chen,Y., Cao,Z.R., Zhang,Y.J.,
            Mo,Z., Wang,Y., Meng,D.F., Yu,L., Lin,L.Z. and Zhang,S.J.
  TITLE     Retinal dehydrogenase 5 (RHD5) attenuates metastasis via regulating
            HIPPO/YAP signaling pathway in Hepatocellular Carcinoma
  JOURNAL   Int J Med Sci 17 (13), 1897-1908 (2020)
   PUBMED   32788868
  REMARK    GeneRIF: Retinal dehydrogenase 5 (RHD5) attenuates metastasis via
            regulating HIPPO/YAP signaling pathway in Hepatocellular Carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1274)
  AUTHORS   Katagiri,S., Hayashi,T., Nakamura,M., Mizobuchi,K., Gekka,T.,
            Komori,S., Ueno,S., Terasaki,H., Sakuramoto,H., Kuniyoshi,K.,
            Kusaka,S., Nagashima,R., Kondo,M., Fujinami,K., Tsunoda,K.,
            Matsuura,T., Kondo,H., Yoshitake,K., Iwata,T. and Nakano,T.
  TITLE     RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort
  JOURNAL   Invest Ophthalmol Vis Sci 61 (3), 53 (2020)
   PUBMED   32232344
  REMARK    GeneRIF: Multimodal imaging and electroretinography of RDH5-related
            fundus albipunctatus (FAP) revealed high frequencies of macular
            involvement in older patients and decreased cone responses.
REFERENCE   5  (bases 1 to 1274)
  AUTHORS   Nakamura,M., Hotta,Y., Tanikawa,A., Terasaki,H. and Miyake,Y.
  TITLE     A high association with cone dystrophy in Fundus albipunctatus
            caused by mutations of the RDH5 gene
  JOURNAL   Invest Ophthalmol Vis Sci 41 (12), 3925-3932 (2000)
   PUBMED   11053295
REFERENCE   6  (bases 1 to 1274)
  AUTHORS   Gonzalez-Fernandez,F., Kurz,D., Bao,Y., Newman,S., Conway,B.P.,
            Young,J.E., Han,D.P. and Khani,S.C.
  TITLE     11-cis retinol dehydrogenase mutations as a major cause of the
            congenital night-blindness disorder known as fundus albipunctatus
  JOURNAL   Mol Vis 5, 41 (1999)
   PUBMED   10617778
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1274)
  AUTHORS   Yamamoto,H., Simon,A., Eriksson,U., Harris,E., Berson,E.L. and
            Dryja,T.P.
  TITLE     Mutations in the gene encoding 11-cis retinol dehydrogenase cause
            delayed dark adaptation and fundus albipunctatus
  JOURNAL   Nat Genet 22 (2), 188-191 (1999)
   PUBMED   10369264
REFERENCE   8  (bases 1 to 1274)
  AUTHORS   Wang,J., Chai,X., Eriksson,U. and Napoli,J.L.
  TITLE     Activity of human 11-cis-retinol dehydrogenase (Rdh5) with steroids
            and retinoids and expression of its mRNA in extra-ocular human
            tissue
  JOURNAL   Biochem J 338 (Pt 1) (Pt 1), 23-27 (1999)
   PUBMED   9931293
REFERENCE   9  (bases 1 to 1274)
  AUTHORS   Mertz,J.R., Shang,E., Piantedosi,R., Wei,S., Wolgemuth,D.J. and
            Blaner,W.S.
  TITLE     Identification and characterization of a stereospecific human
            enzyme that catalyzes 9-cis-retinol oxidation. A possible role in
            9-cis-retinoic acid formation
  JOURNAL   J Biol Chem 272 (18), 11744-11749 (1997)
   PUBMED   9115228
REFERENCE   10 (bases 1 to 1274)
  AUTHORS   Simon,A., Lagercrantz,J., Bajalica-Lagercrantz,S. and Eriksson,U.
  TITLE     Primary structure of human 11-cis retinol dehydrogenase and
            organization and chromosomal localization of the corresponding gene
  JOURNAL   Genomics 36 (3), 424-430 (1996)
   PUBMED   8884265
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP381700.1, U43559.1 and
            BU617433.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 30, 2019 this sequence version replaced NM_002905.4.
            
            Summary: This gene encodes an enzyme belonging to the short-chain
            dehydrogenases/reductases (SDR) family. This retinol dehydrogenase
            functions to catalyze the final step in the biosynthesis of 11-cis
            retinaldehyde, which is the universal chromophore of visual
            pigments. Mutations in this gene cause autosomal recessive fundus
            albipunctatus, a rare form of night blindness that is characterized
            by a delay in the regeneration of cone and rod photopigments.
            Alternative splicing results in multiple transcript variants.
            Read-through transcription also exists between this gene and the
            neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles
            complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010].
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode
            the same protein.
            
            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 :: U89717.1, U43559.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000257895.10/ ENSP00000257895.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-81                BP381700.1         27-107
            82-1209             U43559.1           1-1128
            1210-1274           BU617433.1         55-119              c
FEATURES             Location/Qualifiers
     source          1..1274
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..1274
                     /gene="RDH5"
                     /gene_synonym="9cRDH; HSD17B9; RDH1; SDR9C5"
                     /note="retinol dehydrogenase 5"
                     /db_xref="GeneID:5959"
                     /db_xref="HGNC:HGNC:9940"
                     /db_xref="MIM:601617"
     exon            1..125
                     /gene="RDH5"
                     /gene_synonym="9cRDH; HSD17B9; RDH1; SDR9C5"
                     /inference="alignment:Splign:2.1.0"
     exon            126..467
                     /gene="RDH5"
                     /gene_synonym="9cRDH; HSD17B9; RDH1; SDR9C5"
                     /inference="alignment:Splign:2.1.0"
     CDS             158..1114
                     /gene="RDH5"
                     /gene_synonym="9cRDH; HSD17B9; RDH1; SDR9C5"
                     /EC_number="1.1.1.315"
                     /EC_number="1.1.1.209"
                     /EC_number="1.1.1.53"
                     /note="retinol dehydrogenase 5 (11-cis and 9-cis);
                     9-cis-retinol specific dehydrogenase; 11-cis RDH; retinol
                     dehydrogenase 1; 11-cis RoDH; 9-cis retinol dehydrogenase;
                     short chain dehydrogenase/reductase family 9C member 5;
                     retinol dehydrogenase 5 (11-cis/9-cis)"
                     /codon_start=1
                     /product="retinol dehydrogenase 5"
                     /protein_id="NP_002896.2"
                     /db_xref="CCDS:CCDS31829.1"
                     /db_xref="GeneID:5959"
                     /db_xref="HGNC:HGNC:9940"
                     /db_xref="MIM:601617"
                     /translation="MWLPLLLGALLWAVLWLLRDRQSLPASNAFVFITGCDSGFGRLL
                     ALQLDQRGFRVLASCLTPSGAEDLQRVASSRLHTTLLDITDPQSVQQAAKWVEMHVKE
                     AGLFGLVNNAGVAGIIGPTPWLTRDDFQRVLNVNTMGPIGVTLALLPLLQQARGRVIN
                     ITSVLGRLAANGGGYCVSKFGLEAFSDSLRRDVAHFGIRVSIVEPGFFRTPVTNLESL
                     EKTLQACWARLPPATQAHYGGAFLTKYLKMQQRIMNLICDPDLTKVSRCLEHALTARH
                     PRTRYSPGWDAKLLWLPASYLPASLVDAVLTWVLPKPAQAVY"
     exon            468..726
                     /gene="RDH5"
                     /gene_synonym="9cRDH; HSD17B9; RDH1; SDR9C5"
                     /inference="alignment:Splign:2.1.0"
     exon            727..890
                     /gene="RDH5"
                     /gene_synonym="9cRDH; HSD17B9; RDH1; SDR9C5"
                     /inference="alignment:Splign:2.1.0"
     exon            891..1274
                     /gene="RDH5"
                     /gene_synonym="9cRDH; HSD17B9; RDH1; SDR9C5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1238..1243
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RDH5"
                     /gene_synonym="9cRDH; HSD17B9; RDH1; SDR9C5"
                     /note="hexamer: AATAAA"
     polyA_site      1274
                     /gene="RDH5"
                     /gene_synonym="9cRDH; HSD17B9; RDH1; SDR9C5"
                     /note="major polyA site"
ORIGIN      
        1 actccggact ttggccttag cagtagttag tgtgggaggc tgggaagact gggagcagtc
       61 tcttaaacaa aagcaaaaga ataagcttcg ggcgctgtag tacctgccag ctttcgccac
      121 aggaggctgc cacctgtagg tcacttgggc tccagctatg tggctgcctc ttctgctggg
      181 tgccttactc tgggcagtgc tgtggttgct cagggaccgg cagagcctgc ccgccagcaa
      241 tgcctttgtc ttcatcaccg gctgtgactc aggctttggg cgccttctgg cactgcagct
      301 ggaccagaga ggcttccgag tcctggccag ctgcctgacc ccctccgggg ccgaggacct
      361 gcagcgggtg gcctcctccc gcctccacac caccctgttg gatatcactg atccccagag
      421 cgtccagcag gcagccaagt gggtggagat gcacgttaag gaagcagggc tttttggtct
      481 ggtgaataat gctggtgtgg ctggtatcat cggacccaca ccatggctga cccgggacga
      541 tttccagcgg gtgctgaatg tgaacacaat gggtcccatc ggggtcaccc ttgccctgct
      601 gcctctgctg cagcaagccc ggggccgggt gatcaacatc accagcgtcc tgggtcgcct
      661 ggcagccaat ggtgggggct actgtgtctc caaatttggc ctggaggcct tctctgacag
      721 cctgaggcgg gatgtagctc attttgggat acgagtctcc atcgtggagc ctggcttctt
      781 ccgaacccct gtgaccaacc tggagagtct ggagaaaacc ctgcaggcct gctgggcacg
      841 gctgcctcct gccacacagg cccactatgg gggggccttc ctcaccaagt acctgaaaat
      901 gcaacagcgc atcatgaacc tgatctgtga cccggaccta accaaggtga gccgatgcct
      961 ggagcatgcc ctgactgctc gacacccccg aacccgctac agcccaggtt gggatgccaa
     1021 gctgctctgg ctgcctgcct cctacctgcc agccagcctg gtggatgctg tgctcacctg
     1081 ggtccttccc aagcctgccc aagcagtcta ctgaatccag ccttccagca agagattgtt
     1141 tttcaaggac aaggactttg atttatttct gcccccaccc tggtactgcc tggtgcctgc
     1201 cacaaaataa gcactaacaa aagtgtattg tttaaaaaat aaaaagaagg tgggcagaaa
     1261 tgtgcccagt ggaa
//
