LOCUS       NM_003124               1432 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens sepiapterin reductase (SPR), mRNA.
ACCESSION   NM_003124
VERSION     NM_003124.5
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 1432)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 1432)
  AUTHORS   Himmelreich,N., Blau,N. and Thony,B.
  TITLE     Molecular and metabolic bases of tetrahydrobiopterin (BH4)
            deficiencies
  JOURNAL   Mol Genet Metab 133 (2), 123-136 (2021)
   PUBMED   33903016
  REMARK    GeneRIF: Molecular and metabolic bases of tetrahydrobiopterin (BH4)
            deficiencies.
            Review article
REFERENCE   3  (bases 1 to 1432)
  AUTHORS   Zahra,C., Tabone,C., Camilleri,G., Felice,A.E., Farrugia,R. and
            Bezzina Wettinger,S.
  TITLE     Genetic causes of Parkinson's disease in the Maltese: a study of
            selected mutations in LRRK2, MTHFR, QDPR and SPR
  JOURNAL   BMC Med Genet 17 (1), 65 (2016)
   PUBMED   27613114
  REMARK    GeneRIF: The allele frequencies for the SPR c.596-2A > G (0.7%)
            polymorphism is not a major cause of Parkinson's disease in the
            Maltese.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1432)
  AUTHORS   Yco,L.P., Geerts,D., Mocz,G., Koster,J. and Bachmann,A.S.
  TITLE     Effect of sulfasalazine on human neuroblastoma: analysis of
            sepiapterin reductase (SPR) as a new therapeutic target
  JOURNAL   BMC Cancer 15, 477 (2015)
   PUBMED   26093909
  REMARK    GeneRIF: We earlier presented evidence for a physical interaction
            between ODC and SPR and we showed that RNAi-mediated knockdown of
            SPR expression significantly reduced native ODC enzyme activity and
            impeded Neuroblastoma cell proliferation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1432)
  AUTHORS   Thony,B., Heizmann,C.W. and Mattei,M.G.
  TITLE     Human GTP-cyclohydrolase I gene and sepiapterin reductase gene map
            to region 14q21-q22 and 2p14-p12, respectively, by in situ
            hybridization
  JOURNAL   Genomics 26 (1), 168-170 (1995)
   PUBMED   7782081
REFERENCE   6  (bases 1 to 1432)
  AUTHORS   Friedman,J.
  TITLE     Sepiapterin Reductase Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26131547
REFERENCE   7  (bases 1 to 1432)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   8  (bases 1 to 1432)
  AUTHORS   Maier,J., Schott,K., Werner,T., Bacher,A. and Ziegler,I.
  TITLE     Northern blot analysis of sepiapterin reductase mRNA in mammalian
            cell lines and tissues
  JOURNAL   Adv Exp Med Biol 338, 195-198 (1993)
   PUBMED   8304109
REFERENCE   9  (bases 1 to 1432)
  AUTHORS   Ichinose,H., Katoh,S., Sueoka,T., Titani,K., Fujita,K. and
            Nagatsu,T.
  TITLE     Cloning and sequencing of cDNA encoding human sepiapterin
            reductase--an enzyme involved in tetrahydrobiopterin biosynthesis
  JOURNAL   Biochem Biophys Res Commun 179 (1), 183-189 (1991)
   PUBMED   1883349
REFERENCE   10 (bases 1 to 1432)
  AUTHORS   Takikawa,S., Curtius,H.C., Redweik,U., Leimbacher,W. and Ghisla,S.
  TITLE     Biosynthesis of tetrahydrobiopterin. Purification and
            characterization of 6-pyruvoyl-tetrahydropterin synthase from human
            liver
  JOURNAL   Eur J Biochem 161 (2), 295-302 (1986)
   PUBMED   3536512
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092630.3, BC017310.2 and
            BF434649.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_003124.4.
            
            Summary: This gene encodes an aldo-keto reductase that catalyzes
            the NADPH-dependent reduction of pteridine derivatives and is
            important in the biosynthesis of tetrahydrobiopterin (BH4).
            Mutations in this gene result in DOPA-responsive dystonia due to
            sepiaterin reductase deficiency. A pseudogene has been identified
            on chromosome 1. [provided by RefSeq, Jul 2008].
            
            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 :: SRR1163658.467140.1, AK222942.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000234454.6/ ENSP00000234454.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                AC092630.3         181397-181407
            12-1431             BC017310.2         1-1420
            1432-1432           BF434649.1         10-10               c
FEATURES             Location/Qualifiers
     source          1..1432
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.2"
     gene            1..1432
                     /gene="SPR"
                     /gene_synonym="SDR38C1"
                     /note="sepiapterin reductase"
                     /db_xref="GeneID:6697"
                     /db_xref="HGNC:HGNC:11257"
                     /db_xref="MIM:182125"
     exon            1..329
                     /gene="SPR"
                     /gene_synonym="SDR38C1"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..811
                     /gene="SPR"
                     /gene_synonym="SDR38C1"
                     /EC_number="1.1.1.153"
                     /note="short chain dehydrogenase/reductase family 38C,
                     member 1; sepiapterin reductase
                     (7,8-dihydrobiopterin:NADP+ oxidoreductase); Sepiapterin
                     reductase (L-erythro-7,8-dihydrobiopterin forming)"
                     /codon_start=1
                     /product="sepiapterin reductase"
                     /protein_id="NP_003115.1"
                     /db_xref="CCDS:CCDS1920.1"
                     /db_xref="GeneID:6697"
                     /db_xref="HGNC:HGNC:11257"
                     /db_xref="MIM:182125"
                     /translation="MEGGLGRAVCLLTGASRGFGRTLAPLLASLLSPGSVLVLSARND
                     EALRQLEAELGAERSGLRVVRVPADLGAEAGLQQLLGALRELPRPKGLQRLLLINNAG
                     SLGDVSKGFVDLSDSTQVNNYWALNLTSMLCLTSSVLKAFPDSPGLNRTVVNISSLCA
                     LQPFKGWALYCAGKAARDMLFQVLALEEPNVRVLNYAPGPLDTDMQQLARETSVDPDM
                     RKGLQELKAKGKLVDCKVSAQKLLSLLEKDEFKSGAHVDFYDK"
     exon            330..620
                     /gene="SPR"
                     /gene_synonym="SDR38C1"
                     /inference="alignment:Splign:2.1.0"
     exon            621..1432
                     /gene="SPR"
                     /gene_synonym="SDR38C1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1410..1415
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPR"
                     /gene_synonym="SDR38C1"
                     /note="hexamer: AATAAA"
     polyA_site      1432
                     /gene="SPR"
                     /gene_synonym="SDR38C1"
                     /note="major polyA site"
ORIGIN      
        1 agcgccgccg gcggagaaca ggagcatgga gggcgggctg gggcgtgctg tgtgcttgct
       61 gaccggggcc tcccgcggct tcggccggac gctggccccg ctcctggcct cgctgctgtc
      121 gcccggctcc gtgcttgtcc ttagcgcccg caacgacgag gcactgcgcc agctggaggc
      181 cgagctgggc gccgagcggt ctggcctgcg cgtggtgcgg gtgcccgccg acctgggcgc
      241 cgaggccggc ttgcagcagc tgctcggcgc cctgcgcgag ctcccccggc ccaaggggct
      301 gcagcgactg ctgcttatca acaacgcggg ctctcttggg gatgtgtcca aaggcttcgt
      361 ggacctgagt gactccactc aagtgaacaa ctactgggca ctgaacttga cctccatgct
      421 ctgcctgact tccagcgtcc tgaaggcctt cccggacagt cctggcctca acagaaccgt
      481 ggttaacatc tcgtccctct gtgccctgca acctttcaaa ggctgggcgc tgtactgtgc
      541 aggaaaggct gctcgtgata tgctgttcca ggtcctggcg ctggaggaac ctaatgtgag
      601 ggtgctgaac tatgccccag gtcctctgga cacagacatg cagcagttgg cccgggagac
      661 ctccgtggac ccagacatgc gaaaagggct gcaggagctg aaggcaaagg ggaagctggt
      721 ggattgcaag gtgtcagccc agaaactgct gagcttactg gaaaaggacg agttcaagtc
      781 tggagcccac gtggacttct atgacaaata agcccatgtt tttggcttcc tgaacctttt
      841 tgcccccact tttagacata ccccagagcc ctgtggctcc ccacaccctg ccataggggc
      901 agtcctgcct tacacataga agcattcatg cctgctgccc tgccctcagg cacagccagc
      961 tgtgagctcc caggtcattg gccttaccag ttgtcaggag tctgtgctgt gcaccctggg
     1021 ttataaggag gcttaggaga gaggttatgg gtattggtgt ctctatcccc aggaatagaa
     1081 cttaaggggt gggaagaaca ggaaaagaag ctggaacaca gaagagagga ggttgtgtct
     1141 cttgctcata gcaagcctgt gggtagagga aagagtgatc tggtgtcgaa taggaggacc
     1201 catgtagatt cgcagatggc ctggatggga ggaagggcag acggtacatg tcccagccca
     1261 catagatgcc ccttgctgag ggtagcagga ccttctgttg aactttgtgt cctcactctg
     1321 atgtctcctt ccttcagaat ctaccacccc tcccccaggc tgggagaagg ggctcctggg
     1381 tgtctgtata cacgccaaag gcagatacaa ataaaataca gattgtcctt tc
//
