LOCUS       NM_000787               2745 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens dopamine beta-hydroxylase (DBH), mRNA.
ACCESSION   NM_000787
VERSION     NM_000787.4
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 2745)
  AUTHORS   Wang,T., Zeng,J., Huang,W., Xiong,X. and Su,L.
  TITLE     Right thalamic volume mediates impact of the dopamine
            beta-hydroxylase gene on the endowment effect
  JOURNAL   Behav Brain Res 469, 115050 (2024)
   PUBMED   38761858
  REMARK    GeneRIF: Right thalamic volume mediates impact of the dopamine
            beta-hydroxylase gene on the endowment effect.
REFERENCE   2  (bases 1 to 2745)
  AUTHORS   Hashmi,A.N., Ahmed Dharejo,R., Zubair,U.B., Khan,N., Kashif,I.,
            Ajmal,M., Taj,R., Qamar,R. and Azam,M.
  TITLE     Association of dopamine beta-hydroxylase polymorphism rs1611115 and
            serum levels with psychiatric disorders in Pakistani population
  JOURNAL   Int J Neurosci 134 (6), 551-559 (2024)
   PUBMED   36120985
  REMARK    GeneRIF: Association of dopamine beta-hydroxylase polymorphism
            rs1611115 and serum levels with psychiatric disorders in Pakistani
            population.
REFERENCE   3  (bases 1 to 2745)
  AUTHORS   Punchaichira,T.J., Kukshal,P., Bhatia,T., Deshpande,S.N. and
            Thelma,B.K.
  TITLE     Effect of rs1108580 of DBH and rs1006737 of CACNA1C on Cognition
            and Tardive Dyskinesia in a North Indian Schizophrenia Cohort
  JOURNAL   Mol Neurobiol 60 (12), 6826-6839 (2023)
   PUBMED   37493923
  REMARK    GeneRIF: Effect of rs1108580 of DBH and rs1006737 of CACNA1C on
            Cognition and Tardive Dyskinesia in a North Indian Schizophrenia
            Cohort.
REFERENCE   4  (bases 1 to 2745)
  AUTHORS   Juarez-Cedillo,T., Martinez-Rodriguez,N., Fragoso,J.M.,
            Islas-Perez,V., Lopez-Martinez,A. and Valle-Medina,A.
  TITLE     Multifactor Dimensionality Reduction Analysis to Evaluate the
            Association of Dopamine Beta-Hydroxylase (DBetaH) Polymorphisms
            with Susceptibility to Dementia (SADEM Study)
  JOURNAL   Mol Neurobiol 60 (8), 4731-4737 (2023)
   PUBMED   37148523
  REMARK    GeneRIF: Multifactor Dimensionality Reduction Analysis to Evaluate
            the Association of Dopamine Beta-Hydroxylase (DBetaH) Polymorphisms
            with Susceptibility to Dementia (SADEM Study).
REFERENCE   5  (bases 1 to 2745)
  AUTHORS   Wongpaiboonwattana,W., Hnoonual,A. and Limprasert,P.
  TITLE     Association between 19-bp Insertion/Deletion Polymorphism of
            Dopamine beta-Hydroxylase and Autism Spectrum Disorder in Thai
            Patients
  JOURNAL   Medicina (Kaunas) 58 (9), 1228 (2022)
   PUBMED   36143905
  REMARK    GeneRIF: Association between 19-bp Insertion/Deletion Polymorphism
            of Dopamine beta-Hydroxylase and Autism Spectrum Disorder in Thai
            Patients.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2745)
  AUTHORS   Biaggioni,I.
  TITLE     Dopamine Beta-Hydroxylase Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301647
REFERENCE   7  (bases 1 to 2745)
  AUTHORS   Kobayashi,K., Kurosawa,Y., Fujita,K. and Nagatsu,T.
  TITLE     Human dopamine beta-hydroxylase gene: two mRNA types having
            different 3'-terminal regions are produced through alternative
            polyadenylation
  JOURNAL   Nucleic Acids Res 17 (3), 1089-1102 (1989)
   PUBMED   2922261
REFERENCE   8  (bases 1 to 2745)
  AUTHORS   Craig,S.P., Buckle,V.J., Lamouroux,A., Mallet,J. and Craig,I.W.
  TITLE     Localization of the human dopamine beta hydroxylase (DBH) gene to
            chromosome 9q34
  JOURNAL   Cytogenet Cell Genet 48 (1), 48-50 (1988)
   PUBMED   3180847
REFERENCE   9  (bases 1 to 2745)
  AUTHORS   Lamouroux,A., Vigny,A., Faucon Biguet,N., Darmon,M.C., Franck,R.,
            Henry,J.P. and Mallet,J.
  TITLE     The primary structure of human dopamine-beta-hydroxylase: insights
            into the relationship between the soluble and the membrane-bound
            forms of the enzyme
  JOURNAL   EMBO J 6 (13), 3931-3937 (1987)
   PUBMED   3443096
REFERENCE   10 (bases 1 to 2745)
  AUTHORS   Saxena,A., Hensley,P., Osborne,J.C. Jr. and Fleming,P.J.
  TITLE     The pH-dependent subunit dissociation and catalytic activity of
            bovine dopamine beta-hydroxylase
  JOURNAL   J Biol Chem 260 (6), 3386-3392 (1985)
   PUBMED   3972830
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL365494.17, CD014125.1,
            X13255.1 and BC017174.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_000787.3.
            
            Summary: The protein encoded by this gene is an oxidoreductase
            belonging to the copper type II, ascorbate-dependent monooxygenase
            family. The encoded protein, expressed in neuroscretory vesicles
            and chromaffin granules of the adrenal medulla, catalyzes the
            conversion of dopamine to norepinephrine, which functions as both a
            hormone and as the main neurotransmitter of the sympathetic nervous
            system. The enzyme encoded by this gene exists exists in both
            soluble and membrane-bound forms, depending on the absence or
            presence, respectively, of a signal peptide. Mutations in this gene
            cause dopamine beta-hydroxylate deficiency in human patients,
            characterized by deficits in autonomic and cardiovascular function,
            including hypotension and ptosis. Polymorphisms in this gene may
            play a role in a variety of psychiatric disorders. [provided by
            RefSeq, Aug 2017].
            
            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 :: SRR1803617.149515.1, BC017174.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145122, SAMEA2145544
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000393056.8/ ENSP00000376776.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-348               AL365494.17        10987-11334
            349-1949            CD014125.1         234-1834
            1950-2140           X13255.1           1931-2121
            2141-2745           BC017174.2         2127-2731
FEATURES             Location/Qualifiers
     source          1..2745
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.2"
     gene            1..2745
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /note="dopamine beta-hydroxylase"
                     /db_xref="GeneID:1621"
                     /db_xref="HGNC:HGNC:2689"
                     /db_xref="MIM:609312"
     exon            1..348
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             10..1863
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /EC_number="1.14.17.1"
                     /note="dopamine beta-hydroxylase (dopamine
                     beta-monooxygenase)"
                     /codon_start=1
                     /product="dopamine beta-hydroxylase precursor"
                     /protein_id="NP_000778.3"
                     /db_xref="CCDS:CCDS6977.2"
                     /db_xref="GeneID:1621"
                     /db_xref="HGNC:HGNC:2689"
                     /db_xref="MIM:609312"
                     /translation="MPALSRWASLPGPSMREAAFMYSTAVAIFLVILVAALQGSAPRE
                     SPLPYHIPLDPEGSLELSWNVSYTQEAIHFQLLVRRLKAGVLFGMSDRGELENADLVV
                     LWTDGDTAYFADAWSDQKGQIHLDPQQDYQLLQVQRTPEGLTLLFKRPFGTCDPKDYL
                     IEDGTVHLVYGILEEPFRSLEAINGSGLQMGLQRVQLLKPNIPEPELPSDACTMEVQA
                     PNIQIPSQETTYWCYIKELPKGFSRHHIIKYEPIVTKGNEALVHHMEVFQCAPEMDSV
                     PHFSGPCDSKMKPDRLNYCRHVLAAWALGAKAFYYPEEAGLAFGGPGSSRYLRLEVHY
                     HNPLVIEGRNDSSGIRLYYTAKLRRFNAGIMELGLVYTPVMAIPPRETAFILTGYCTD
                     KCTQLALPPSGIHIFASQLHTHLTGRKVVTVLVRDGREWEIVNQDNHYSPHFQEIRML
                     KKVVSVHPGDVLITSCTYNTEDRELATVGGFGILEEMCVNYVHYYPQTQLELCKSAVD
                     AGFLQKYFHLINRFNNEDVCTCPQASVSQQFTSVPWNSFNRDVLKALYSFAPISMHCN
                     KSSAVRFQGEWNLQPLPKVISTLEEPTPQCPTSQGRSPAGPTVVSIGGGKG"
     exon            349..495
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /inference="alignment:Splign:2.1.0"
     exon            496..753
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /inference="alignment:Splign:2.1.0"
     exon            754..930
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /inference="alignment:Splign:2.1.0"
     exon            931..1033
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1034..1200
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1201..1344
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1345..1383
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1384..1443
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1444..1571
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1572..1731
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1732..2745
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2721..2726
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /note="hexamer: AATAAA"
     polyA_site      2745
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /note="major polyA site"
ORIGIN      
        1 accccagcca tgcccgccct cagtcgctgg gccagcctgc ccggccccag catgcgggag
       61 gcagccttca tgtacagcac agcagtggcc atcttcctgg tcatcctggt ggccgcactg
      121 cagggctcgg ctccccgtga gagccccctc ccctatcaca tccccctgga cccggagggg
      181 tccctggagc tctcatggaa tgtcagctac acccaggagg ccatccattt ccagctcctg
      241 gtgcggaggc tcaaggctgg cgtcctgttt gggatgtccg accgtggcga gcttgagaac
      301 gcagatctcg tggtgctctg gaccgatggg gacactgcct attttgcgga cgcctggagt
      361 gaccagaagg ggcagatcca cctggatccc cagcaggact accagctgct gcaggtgcag
      421 aggaccccag aaggcctgac cctgcttttc aagaggccct ttggcacctg cgaccccaag
      481 gattacctca ttgaagacgg cactgtccac ttggtctacg ggatcctgga ggagccgttc
      541 cggtcactgg aggccatcaa cggctcgggc ctgcagatgg ggctgcagag ggtgcagctc
      601 ctgaagccca atatccccga accggagttg ccctcagacg cgtgcaccat ggaggtccaa
      661 gctcccaata tccagatccc cagccaggag accacgtact ggtgctacat taaggagctt
      721 ccaaagggct tctctcggca ccacattatc aagtacgagc ccatcgtcac caagggcaat
      781 gaggcccttg tccaccacat ggaagtcttc cagtgcgccc ccgagatgga cagcgtcccc
      841 cacttcagcg ggccctgcga ctccaagatg aaacccgacc gcctcaacta ctgccgccac
      901 gtgctggccg cctgggccct gggtgccaag gcattttact acccagagga agccggcctt
      961 gccttcgggg gtccagggtc ctccagatat ctccgcctgg aagttcacta ccacaaccca
     1021 ctggtgatag aaggacgaaa cgactcctca ggcatccgct tgtactacac agccaagctg
     1081 cggcgcttca acgcggggat catggagctg ggactggtgt acacgccagt gatggccatt
     1141 ccaccacggg agaccgcctt catcctcact ggctactgca cggacaagtg cacccagctg
     1201 gcactgcctc cctccgggat ccacatcttc gcctctcagc tccacacaca cctgactggg
     1261 agaaaggtgg tcacagtgct ggtccgggac ggccgggagt gggagatcgt gaaccaggac
     1321 aatcactaca gccctcactt ccaggagatc cgcatgttga agaaggtcgt gtcggtccat
     1381 ccgggagatg tgctcatcac ctcctgcacg tacaacacag aagaccggga gctggccaca
     1441 gtggggggct tcgggatcct ggaggagatg tgtgtcaact acgtgcacta ctacccccag
     1501 acgcagctgg agctctgcaa gagcgctgtg gacgccggct tcctgcagaa gtacttccac
     1561 ctcatcaaca ggttcaacaa cgaggatgtc tgcacctgcc ctcaggcgtc cgtgtctcag
     1621 cagttcacct ctgttccctg gaactccttc aaccgcgacg tactgaaggc cctgtacagc
     1681 ttcgcgccca tctccatgca ctgcaacaag tcctcagccg tccgcttcca gggtgaatgg
     1741 aacctgcagc ccctgcccaa ggtcatctcc acactggaag agcccacccc acagtgcccc
     1801 accagccagg gccgaagccc tgctggcccc accgttgtca gcattggtgg gggcaaaggc
     1861 tgagggggga cctactcctc cccctcctcc atgctgtccc tgtgggctca caccggcact
     1921 gtgcactcta ctctgcgacg atccccatgg aacagccctg cacgcccagg atgaaggggc
     1981 cagaccacgc ccctgcctga gaccacggtc caatccagcc ttcttccccc agggtcccct
     2041 gcatggctga gagggtgtgg gtgccctgtt gacctaccct ggaccgagtg gaccacgacc
     2101 tcgtccattt aaacccggct gactcagtgc agggacagcc tgcacagtgg tccagggtcc
     2161 agccctccgc cagccctgtt ccgcctcact gggtgtggcc tggcttctgg gacaggcacc
     2221 atgctgggcc ggggtgtgga atcaccggga acgcccccgc ccccgccccg ctgctcccgg
     2281 tgtgcagcgg gtgcgggtgc cgcttaaaca tttccctgct gagtggctcg tgtttcacag
     2341 tgggcggctt ccctgcgacg gaggcaggac caggcattta gctagttaga gactcgcctg
     2401 ggaaattgct ccattcctga gtaaacagat attttcgccc acctaaaggg aagccctgac
     2461 aacaactatc accaaaagac gaggcggcaa agatccagcg gggcttctgg gcgccggttc
     2521 cacgtggggt ggaattatta gcaccagctt gcttctctgc cggtggggcc agcgctgaac
     2581 agaccggggt ggagtcaggg ctgtgctttc cgcgtggttc tgccacttag ggagtgtgcc
     2641 ttgggcgggc catttcacat tcctgaccct cacttttctc atctgtaaaa ccaggctgat
     2701 gccgtgcggg ctaatgagcc aataaagctc acacttgggc tggca
//
