LOCUS       NM_152443               1878 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens retinol dehydrogenase 12 (RDH12), mRNA.
ACCESSION   NM_152443
VERSION     NM_152443.3
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 1878)
  AUTHORS   Kaylor,J.J., Frederiksen,R., Bedrosian,C.K., Huang,M.,
            Stennis-Weatherspoon,D., Huynh,T., Ngan,T., Mulamreddy,V.,
            Sampath,A.P., Fain,G.L. and Travis,G.H.
  TITLE     RDH12 allows cone photoreceptors to regenerate opsin visual
            pigments from a chromophore precursor to escape competition with
            rods
  JOURNAL   Curr Biol 34 (15), 3342-3353 (2024)
   PUBMED   38981477
  REMARK    GeneRIF: RDH12 allows cone photoreceptors to regenerate opsin
            visual pigments from a chromophore precursor to escape competition
            with rods.
REFERENCE   2  (bases 1 to 1878)
  AUTHORS   Daich Varela,M., Moya,R., Azevedo Souza Amaral,R.,
            Schlottmann,P.G., Alvarez Mendiara,A., Francone,A., Guazi
            Resende,R., Capalbo,L., Gelvez,N., Lopez,G., Morales-Acevedo,A.M.,
            Ossa,R.H., Arno,G., Michaelides,M., Tamayo,M.L. and Ferraz
            Sallum,J.M.
  TITLE     Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in
            a South American Cohort
  JOURNAL   Ophthalmol Retina 8 (2), 163-173 (2024)
   PUBMED   37714431
  REMARK    GeneRIF: Clinical and Genetic Characterization of RDH12-Retinal
            Dystrophy in a South American Cohort.
REFERENCE   3  (bases 1 to 1878)
  AUTHORS   Kuo,C.Y., Chung,M.Y. and Chen,S.J.
  TITLE     Pseudocoloboma-like maculopathy with biallelic RDH12 missense
            mutations
  JOURNAL   J Med Genet 60 (9), 859-865 (2023)
   PUBMED   36690427
  REMARK    GeneRIF: Pseudocoloboma-like maculopathy with biallelic RDH12
            missense mutations.
REFERENCE   4  (bases 1 to 1878)
  AUTHORS   Wang,J., Wang,Y., Li,S., Xiao,X., Yi,Z., Jiang,Y., Li,X., Jia,X.,
            Wang,P., Jin,C., Sun,W. and Zhang,Q.
  TITLE     Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27
            Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy
  JOURNAL   Invest Ophthalmol Vis Sci 63 (9), 24 (2022)
   PUBMED   35994252
  REMARK    GeneRIF: Clinical and Genetic Analysis of RDH12-Associated
            Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to
            Cone-Rod Dystrophy.
REFERENCE   5  (bases 1 to 1878)
  AUTHORS   Janecke,A.R., Thompson,D.A., Utermann,G., Becker,C., Hubner,C.A.,
            Schmid,E., McHenry,C.L., Nair,A.R., Ruschendorf,F.,
            Heckenlively,J., Wissinger,B., Nurnberg,P. and Gal,A.
  TITLE     Mutations in RDH12 encoding a photoreceptor cell retinol
            dehydrogenase cause childhood-onset severe retinal dystrophy
  JOURNAL   Nat Genet 36 (8), 850-854 (2004)
   PUBMED   15258582
  REMARK    GeneRIF: Our studies show that RDH12 is associated with retinal
            dystrophy and encodes an enzyme with a unique, nonredundant role in
            the photoreceptor cells.
            Erratum:[Nat Genet. 2004 Sep;36(9):1024]
REFERENCE   6  (bases 1 to 1878)
  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   7  (bases 1 to 1878)
  AUTHORS   Stockton,D.W., Lewis,R.A., Abboud,E.B., Al-Rajhi,A., Jabak,M.,
            Anderson,K.L. and Lupski,J.R.
  TITLE     A novel locus for Leber congenital amaurosis on chromosome 14q24
  JOURNAL   Hum Genet 103 (3), 328-333 (1998)
   PUBMED   9799089
REFERENCE   8  (bases 1 to 1878)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30285347
REFERENCE   9  (bases 1 to 1878)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   10 (bases 1 to 1878)
  AUTHORS   Weleber,R.G., Francis,P.J., Trzupek,K.M. and Beattie,C.
  TITLE     Leber Congenital Amaurosis - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301475
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK315462.1 and BC025724.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_152443.2.
            
            Summary: The protein encoded by this gene is an NADPH-dependent
            retinal reductase whose highest activity is toward 9-cis and
            all-trans-retinol. The encoded enzyme also plays a role in the
            metabolism of short-chain aldehydes but does not exhibit steroid
            dehydrogenase activity. Defects in this gene are a cause of Leber
            congenital amaurosis type 13 and Retinitis Pigmentosa 53. [provided
            by RefSeq, Sep 2015].
            
            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 :: AK315462.1, SRR14038191.1798268.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2159080
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000551171.6/ ENSP00000449079.1
            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
            1-1275              AK315462.1         1-1275
            1276-1878           BC025724.1         1122-1724
FEATURES             Location/Qualifiers
     source          1..1878
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.1"
     gene            1..1878
                     /gene="RDH12"
                     /gene_synonym="LCA13; RP53; SDR7C2"
                     /note="retinol dehydrogenase 12"
                     /db_xref="GeneID:145226"
                     /db_xref="HGNC:HGNC:19977"
                     /db_xref="MIM:608830"
     exon            1..50
                     /gene="RDH12"
                     /gene_synonym="LCA13; RP53; SDR7C2"
                     /inference="alignment:Splign:2.1.0"
     exon            51..105
                     /gene="RDH12"
                     /gene_synonym="LCA13; RP53; SDR7C2"
                     /inference="alignment:Splign:2.1.0"
     exon            106..392
                     /gene="RDH12"
                     /gene_synonym="LCA13; RP53; SDR7C2"
                     /inference="alignment:Splign:2.1.0"
     CDS             325..1275
                     /gene="RDH12"
                     /gene_synonym="LCA13; RP53; SDR7C2"
                     /EC_number="1.1.1.300"
                     /note="retinol dehydrogenase 12, all-trans and 9-cis;
                     all-trans and 9-cis retinol dehydrogenase; short chain
                     dehydrogenase/reductase family 7C member 2; retinol
                     dehydrogenase 12 (all-trans/9-cis/11-cis)"
                     /codon_start=1
                     /product="retinol dehydrogenase 12"
                     /protein_id="NP_689656.2"
                     /db_xref="CCDS:CCDS9787.1"
                     /db_xref="GeneID:145226"
                     /db_xref="HGNC:HGNC:19977"
                     /db_xref="MIM:608830"
                     /translation="MLVTLGLLTSFFSFLYMVAPSIRKFFAGGVCRTNVQLPGKVVVI
                     TGANTGIGKETARELASRGARVYIACRDVLKGESAASEIRVDTKNSQVLVRKLDLSDT
                     KSIRAFAEGFLAEEKQLHILINNAGVMMCPYSKTADGFETHLGVNHLGHFLLTYLLLE
                     RLKVSAPARVVNVSSVAHHIGKIPFHDLQSEKRYSRGFAYCHSKLANVLFTRELAKRL
                     QGTGVTTYAVHPGVVRSELVRHSSLLCLLWRLFSPFVKTAREGAQTSLHCALAEGLEP
                     LSGKYFSDCKRTWVSPRARNNKTAERLWNVSCELLGIRWE"
     exon            393..511
                     /gene="RDH12"
                     /gene_synonym="LCA13; RP53; SDR7C2"
                     /inference="alignment:Splign:2.1.0"
     exon            512..667
                     /gene="RDH12"
                     /gene_synonym="LCA13; RP53; SDR7C2"
                     /inference="alignment:Splign:2.1.0"
     exon            668..772
                     /gene="RDH12"
                     /gene_synonym="LCA13; RP53; SDR7C2"
                     /inference="alignment:Splign:2.1.0"
     exon            773..982
                     /gene="RDH12"
                     /gene_synonym="LCA13; RP53; SDR7C2"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1172
                     /gene="RDH12"
                     /gene_synonym="LCA13; RP53; SDR7C2"
                     /inference="alignment:Splign:2.1.0"
     exon            1173..1878
                     /gene="RDH12"
                     /gene_synonym="LCA13; RP53; SDR7C2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1857..1862
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RDH12"
                     /gene_synonym="LCA13; RP53; SDR7C2"
                     /note="hexamer: AATAAA"
     polyA_site      1878
                     /gene="RDH12"
                     /gene_synonym="LCA13; RP53; SDR7C2"
                     /note="major polyA site"
ORIGIN      
        1 gggcacaagc aatcctccct tctcagcttc ctgagtggcc aggactacag aggactgtat
       61 gctgttctta aggactctct gcttcctgga caagctcaag ctaaggacta catctcccag
      121 caggctgtgc tctgacagct cttggattta aataggattc tgggctctgc tcagagtcag
      181 gctgctgctc agcacccagg acggagagga gcagagaagc agcagaagca gccaagagct
      241 ggagccagac caggaacctg agccagagct ggggttgaag ctggagcagc agcaaaagca
      301 acagcagcta cagaagttgg aacgatgctg gtcaccttgg gactgctcac ctccttcttc
      361 tcgttcctgt atatggtagc tccatccatc aggaagttct ttgctggtgg agtgtgtaga
      421 acaaatgtgc agcttcctgg caaggtagtg gtgatcactg gcgccaacac gggcattggc
      481 aaggagacgg ccagagagct cgctagccga ggagcccgag tctatattgc ctgcagagat
      541 gtactgaagg gggagtctgc tgccagtgaa atccgagtgg atacaaagaa ctcccaggtg
      601 ctggtgcgga aattggacct atccgacacc aaatctatcc gagcctttgc tgagggcttt
      661 ctggcagagg aaaagcagct ccatattctg atcaacaatg cgggagtaat gatgtgtcca
      721 tattccaaga cagctgatgg ctttgaaacc cacctgggag tcaaccacct gggccacttc
      781 ctcctcacct acctgctcct ggagcggcta aaggtgtctg cccctgcacg ggtggttaat
      841 gtgtcctcgg tggctcacca cattggcaag attcccttcc acgacctcca gagcgagaag
      901 cgctacagca ggggttttgc ctattgccac agcaagctgg ccaatgtgct ttttactcgt
      961 gagctggcca agaggctcca aggcaccggg gtcaccacct acgcagtgca cccaggcgtc
     1021 gtccgctctg agctggtccg gcactcctcc ctgctctgcc tgctctggcg gctcttctcc
     1081 ccctttgtca agacggcacg ggagggggcg cagaccagcc tgcactgcgc cctggctgag
     1141 ggcctggagc ccctgagtgg caagtacttc agtgactgca agaggacctg ggtgtctcca
     1201 agggcccgaa ataacaaaac agctgagcgc ctatggaatg tcagctgtga gcttctagga
     1261 atccggtggg agtagctggt ggaagagctg cagctttatc aggcccaatc catgccataa
     1321 tgaacaggga ccaaggagaa ggccaaccct aaaggattgt cctcttggcc agctggtgct
     1381 gcgaatcctg cctgctctga tcctcttgac ccttctggga atgtttgcac acctgacact
     1441 cttgtgagac tggcttatgg catgagttgt ggacacctat agagtgttct tctctaagac
     1501 ctggaaagtc agcaaccctc tgggggcagc aggactgggc agatcccagg ctgggcatgg
     1561 gggtggcaga agagcccgag aaattgggtc agttccctca tcagcaccag aggctcagct
     1621 gaggcaagaa gagcaccatc actgcctatt tctaggggct atacactcca actcttggtt
     1681 gatctctttc tttttaaaaa tatttgccac caccctggag tctagaccaa cacacaaaga
     1741 tcctggctaa ccctggccta tttagattcc ttcctctcac ctggaccttc ccatttcaat
     1801 catgcagatg gtttcttttt gtaaagagtt ccgtttgcct ttcaattttt agagaaaata
     1861 aagactgcat tcatctca
//
