LOCUS       NM_020905               1560 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens retinol dehydrogenase 14 (RDH14), mRNA.
ACCESSION   NM_020905
VERSION     NM_020905.4
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 1560)
  AUTHORS   Pastore,S.F., Muhammad,T., Harripaul,R., Lau,R., Khan,M.T.M.,
            Khan,M.I., Islam,O., Kang,C., Ayub,M., Jelani,M. and Vincent,J.B.
  TITLE     Biallelic inheritance in a single Pakistani family with
            intellectual disability implicates new candidate gene RDH14
  JOURNAL   Sci Rep 11 (1), 23113 (2021)
   PUBMED   34848785
  REMARK    GeneRIF: Biallelic inheritance in a single Pakistani family with
            intellectual disability implicates new candidate gene RDH14.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1560)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 1560)
  AUTHORS   de Mateo,S., Castillo,J., Estanyol,J.M., Ballesca,J.L. and Oliva,R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   4  (bases 1 to 1560)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1560)
  AUTHORS   Persson,B., Kallberg,Y., Bray,J.E., Bruford,E., Dellaporta,S.L.,
            Favia,A.D., Duarte,R.G., Jornvall,H., Kavanagh,K.L., Kedishvili,N.,
            Kisiela,M., Maser,E., Mindnich,R., Orchard,S., Penning,T.M.,
            Thornton,J.M., Adamski,J. and Oppermann,U.
  TITLE     The SDR (short-chain dehydrogenase/reductase and related enzymes)
            nomenclature initiative
  JOURNAL   Chem Biol Interact 178 (1-3), 94-98 (2009)
   PUBMED   19027726
REFERENCE   6  (bases 1 to 1560)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   7  (bases 1 to 1560)
  AUTHORS   Tomarev,S.I., Wistow,G., Raymond,V., Dubois,S. and Malyukova,I.
  TITLE     Gene expression profile of the human trabecular meshwork: NEIBank
            sequence tag analysis
  JOURNAL   Invest Ophthalmol Vis Sci 44 (6), 2588-2596 (2003)
   PUBMED   12766061
REFERENCE   8  (bases 1 to 1560)
  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   9  (bases 1 to 1560)
  AUTHORS   Belyaeva,O.V. and Kedishvili,N.Y.
  TITLE     Human pancreas protein 2 (PAN2) has a retinal reductase activity
            and is ubiquitously expressed in human tissues
  JOURNAL   FEBS Lett 531 (3), 489-493 (2002)
   PUBMED   12435598
  REMARK    GeneRIF: kinetic constants and expression pattern of PAN2 suggest
            that it is likely to function as a reductase in vivo and might
            contribute to the reduction of retinaldehyde to retinol in most
            human tissues
REFERENCE   10 (bases 1 to 1560)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK314994.1, AY358511.1 and CD676669.1.
            
            On Nov 23, 2018 this sequence version replaced NM_020905.3.
            
            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 :: SRR1163657.235523.1,
                                           SRR3476690.1000667.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381249.4/ ENSP00000370648.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1092              AK314994.1         1-1092
            1093-1550           AY358511.1         1076-1533
            1551-1560           CD676669.1         515-524
FEATURES             Location/Qualifiers
     source          1..1560
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p24.2"
     gene            1..1560
                     /gene="RDH14"
                     /gene_synonym="PAN2; SDR7C4"
                     /note="retinol dehydrogenase 14"
                     /db_xref="GeneID:57665"
                     /db_xref="HGNC:HGNC:19979"
                     /db_xref="MIM:616796"
     exon            1..474
                     /gene="RDH14"
                     /gene_synonym="PAN2; SDR7C4"
                     /inference="alignment:Splign:2.1.0"
     CDS             82..1092
                     /gene="RDH14"
                     /gene_synonym="PAN2; SDR7C4"
                     /EC_number="1.1.1.300"
                     /note="pancreas protein 2; retinol dehydrogenase 14
                     (all-trans and 9-cis); alcohol dehydrogenase PAN2; short
                     chain dehydrogenase/reductase family 7C member 4; retinol
                     dehydrogenase 14 (all-trans/9-cis/11-cis)"
                     /codon_start=1
                     /product="retinol dehydrogenase 14"
                     /protein_id="NP_065956.1"
                     /db_xref="CCDS:CCDS1693.1"
                     /db_xref="GeneID:57665"
                     /db_xref="HGNC:HGNC:19979"
                     /db_xref="MIM:616796"
                     /translation="MAVATAAAVLAALGGALWLAARRFVGPRVQRLRRGGDPGLMHGK
                     TVLITGANSGLGRATAAELLRLGARVIMGCRDRARAEEAAGQLRRELRQAAECGPEPG
                     VSGVGELIVRELDLASLRSVRAFCQEMLQEEPRLDVLINNAGIFQCPYMKTEDGFEMQ
                     FGVNHLGHFLLTNLLLGLLKSSAPSRIVVVSSKLYKYGDINFDDLNSEQSYNKSFCYS
                     RSKLANILFTRELARRLEGTNVTVNVLHPGIVRTNLGRHIHIPLLVKPLFNLVSWAFF
                     KTPVEGAQTSIYLASSPEVEGVSGRYFGDCKEEELLPKAMDESVARKLWDISEVMVGL
                     LK"
     exon            475..1560
                     /gene="RDH14"
                     /gene_synonym="PAN2; SDR7C4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1534..1539
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RDH14"
                     /gene_synonym="PAN2; SDR7C4"
                     /note="hexamer: AATAAA"
     polyA_site      1560
                     /gene="RDH14"
                     /gene_synonym="PAN2; SDR7C4"
                     /note="major polyA site"
ORIGIN      
        1 gtacaggtgg tctcttgggt tccggtaagg cggcggctgc ggaactcccg tggaggggcc
       61 ggtgggccct cgggcctgac gatggcagtg gccactgcgg cggcagtact ggccgctctg
      121 ggcggggcgc tgtggctggc ggcccgccgg ttcgtggggc ccagggtcca gcggctgcgc
      181 agaggcgggg accccggcct catgcacggg aagactgtgc tgatcaccgg ggcgaacagc
      241 ggcctgggcc gcgccacggc cgccgagcta ctgcgcctgg gagcgcgggt gatcatgggc
      301 tgccgggacc gcgcgcgcgc cgaggaggcg gcgggtcagc tccgccgcga gctccgccag
      361 gccgcggagt gcggcccaga gcctggcgtc agcggggtgg gcgagctcat agtccgggag
      421 ctggacctcg cctcgctgcg ctcggtgcgc gccttctgcc aggaaatgct ccaggaagag
      481 cctaggctgg atgtcttgat caataacgca gggatcttcc agtgccctta catgaagact
      541 gaagatgggt ttgagatgca gttcggagtg aaccatctgg ggcactttct actcaccaat
      601 cttctccttg gactcctcaa aagttcagct cccagcagga ttgtggtagt ttcttccaaa
      661 ctttataaat acggagacat caattttgat gacttgaaca gtgaacaaag ctataataaa
      721 agcttttgtt atagccggag caaactggct aacattcttt ttaccaggga actagcccgc
      781 cgcttagaag gcacaaatgt caccgtcaat gtgttgcatc ctggtattgt acggacaaat
      841 ctggggaggc acatacacat tccactgttg gtcaaaccac tcttcaattt ggtgtcatgg
      901 gcttttttca aaactccagt agaaggtgcc cagacttcca tttatttggc ctcttcacct
      961 gaggtagaag gagtgtcagg aagatacttt ggggattgta aagaggaaga actgttgccc
     1021 aaagctatgg atgaatctgt tgcaagaaaa ctctgggata tcagtgaagt gatggttggc
     1081 ctgctaaaat aggaacaagg agtaaaagag ctgtttataa aactgcatat cagttatatc
     1141 tgtgatcagg aatggtgtgg attgagaact tgttacttga agaaaaagaa ttttgatatt
     1201 ggaatagcct gctaagaggt acatgtgggt attttggagt tactgaaaaa ttatttttgg
     1261 gataagagaa tttcagcaaa gatgttttaa atatatatag taagtataat gaataataag
     1321 tacaatgaaa aatacaatta tattgtaaaa ttataactgg gcaagcatgg atgacatatt
     1381 aatatttgtc agaattaagt gactcaaagt gctatcgaga ggtttttcaa gtatctttga
     1441 gtttcatggc caaagtgtta actagtttta ctacaatgtt tggtgtttgt gtggaaatta
     1501 tctgcctggt gtgtgcacac aagtcttact tggaataaat ttactggtac aaattcttaa
//
