LOCUS       NM_001242888            1715 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens dopa decarboxylase (DDC), transcript variant 5, mRNA.
ACCESSION   NM_001242888
VERSION     NM_001242888.2
KEYWORDS    RefSeq.
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 1715)
  AUTHORS   Koshimizu,E., Kato,M., Misawa,K., Uchiyama,Y., Tsuchida,N.,
            Hamanaka,K., Fujita,A., Mizuguchi,T., Miyatake,S. and Matsumoto,N.
  TITLE     Detection of hidden intronic DDC variant in aromatic L-amino acid
            decarboxylase deficiency by adaptive sampling
  JOURNAL   J Hum Genet 69 (3-4), 153-157 (2024)
   PUBMED   38216729
  REMARK    GeneRIF: Detection of hidden intronic DDC variant in aromatic
            L-amino acid decarboxylase deficiency by adaptive sampling.
REFERENCE   2  (bases 1 to 1715)
  AUTHORS   Tsopela,V., Korakidis,E., Lagou,D., Kalliampakou,K.I., Milona,R.S.,
            Kyriakopoulou,E., Mpekoulis,G., Gemenetzi,I., Stylianaki,E.A.,
            Sideris,C.D., Sioli,A., Kefallinos,D., Sideris,D.C., Aidinis,V.,
            Eliopoulos,A.G., Kambas,K., Vassilacopoulou,D. and Vassilaki,N.
  TITLE     L-Dopa decarboxylase modulates autophagy in hepatocytes and is
            implicated in dengue virus-caused inhibition of autophagy
            completion
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1871 (1), 119602 (2024)
   PUBMED   37778471
  REMARK    GeneRIF: L-Dopa decarboxylase modulates autophagy in hepatocytes
            and is implicated in dengue virus-caused inhibition of autophagy
            completion.
REFERENCE   3  (bases 1 to 1715)
  AUTHORS   Simons,C.L., Hwu,W.L., Zhang,R., Simons,M.J.H.G., Bergkvist,M. and
            Bennison,C.
  TITLE     Long-Term Outcomes of Eladocagene Exuparvovec Compared with
            Standard of Care in Aromatic L-Amino Acid Decarboxylase (AADC)
            Deficiency: A Modelling Study
  JOURNAL   Adv Ther 40 (12), 5399-5414 (2023)
   PUBMED   37803205
  REMARK    GeneRIF: Long-Term Outcomes of Eladocagene Exuparvovec Compared
            with Standard of Care in Aromatic L-Amino Acid Decarboxylase (AADC)
            Deficiency: A Modelling Study.
REFERENCE   4  (bases 1 to 1715)
  AUTHORS   Zhao,H., Shi,C., Zhao,G., Liu,J., Wang,X., Liang,J. and Li,F.
  TITLE     RNA modification regulator DDC in endometrial cancer affects the
            tumor microenvironment and patient prognosis
  JOURNAL   Sci Rep 13 (1), 18057 (2023)
   PUBMED   37872211
  REMARK    GeneRIF: RNA modification regulator DDC in endometrial cancer
            affects the tumor microenvironment and patient prognosis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1715)
  AUTHORS   Pereira,J.B., Kumar,A., Hall,S., Palmqvist,S., Stomrud,E., Bali,D.,
            Parchi,P., Mattsson-Carlgren,N., Janelidze,S. and Hansson,O.
  TITLE     DOPA decarboxylase is an emerging biomarker for Parkinsonian
            disorders including preclinical Lewy body disease
  JOURNAL   Nat Aging 3 (10), 1201-1209 (2023)
   PUBMED   37723208
  REMARK    GeneRIF: DOPA decarboxylase is an emerging biomarker for
            Parkinsonian disorders including preclinical Lewy body disease.
REFERENCE   6  (bases 1 to 1715)
  AUTHORS   Blau,N., Pearson,T.S., Kurian,M.A. and Elsea,S.H.
  TITLE     Aromatic L-Amino Acid Decarboxylase Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   37824694
REFERENCE   7  (bases 1 to 1715)
  AUTHORS   Hyland,K., Surtees,R.A., Rodeck,C. and Clayton,P.T.
  TITLE     Aromatic L-amino acid decarboxylase deficiency: clinical features,
            diagnosis, and treatment of a new inborn error of neurotransmitter
            amine synthesis
  JOURNAL   Neurology 42 (10), 1980-1988 (1992)
   PUBMED   1357595
REFERENCE   8  (bases 1 to 1715)
  AUTHORS   Scherer,L.J., McPherson,J.D., Wasmuth,J.J. and Marsh,J.L.
  TITLE     Human dopa decarboxylase: localization to human chromosome 7p11 and
            characterization of hepatic cDNAs
  JOURNAL   Genomics 13 (2), 469-471 (1992)
   PUBMED   1612608
REFERENCE   9  (bases 1 to 1715)
  AUTHORS   Sumi-Ichinose,C., Ichinose,H., Takahashi,E., Hori,T. and Nagatsu,T.
  TITLE     Molecular cloning of genomic DNA and chromosomal assignment of the
            gene for human aromatic L-amino acid decarboxylase, the enzyme for
            catecholamine and serotonin biosynthesis
  JOURNAL   Biochemistry 31 (8), 2229-2238 (1992)
   PUBMED   1540578
REFERENCE   10 (bases 1 to 1715)
  AUTHORS   Craig,S.P., Thai,A.L., Weber,M. and Craig,I.W.
  TITLE     Localisation of the gene for human aromatic L-amino acid
            decarboxylase (DDC) to chromosome 7p13-->p11 by in situ
            hybridisation
  JOURNAL   Cytogenet Cell Genet 61 (2), 114-116 (1992)
   PUBMED   1395716
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC018705.10.
            
            On May 31, 2019 this sequence version replaced NM_001242888.1.
            
            Summary: The encoded protein catalyzes the decarboxylation of
            L-3,4-dihydroxyphenylalanine (DOPA) to dopamine,
            L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine.
            Defects in this gene are the cause of aromatic L-amino-acid
            decarboxylase deficiency (AADCD). AADCD deficiency is an inborn
            error in neurotransmitter metabolism that leads to combined
            serotonin and catecholamine deficiency. Multiple alternatively
            spliced transcript variants encoding different isoforms have been
            identified for this gene. [provided by RefSeq, Jun 2011].
            
            Transcript Variant: This variant (5) lacks in-frame two consecutive
            coding exons, compared to variant 2. The resulting isoform (4)
            lacks an internal segment, compared to isoform 1.
            
            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 :: CD013934.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-58                AC018705.10        153528-153585       c
            59-287              AC018705.10        136400-136628       c
            288-422             AC018705.10        121723-121857       c
            423-566             AC018705.10        120652-120795       c
            567-633             AC018705.10        96508-96574         c
            634-728             AC018705.10        91663-91757         c
            729-796             AC018705.10        87865-87932         c
            797-873             AC018705.10        72302-72378         c
            874-893             AC018705.10        69139-69158         c
            894-992             AC018705.10        62588-62686         c
            993-1094            AC018705.10        59729-59830         c
            1095-1313           AC018705.10        55728-55946         c
            1314-1715           AC018705.10        50957-51358         c
FEATURES             Location/Qualifiers
     source          1..1715
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p12.2-p12.1"
     gene            1..1715
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /note="dopa decarboxylase"
                     /db_xref="GeneID:1644"
                     /db_xref="HGNC:HGNC:2719"
                     /db_xref="MIM:107930"
     exon            1..58
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            59..287
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     CDS             87..1295
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /EC_number="4.1.1.28"
                     /note="isoform 4 is encoded by transcript variant 5;
                     aromatic-L-amino-acid decarboxylase; dopa decarboxylase
                     (aromatic L-amino acid decarboxylase)"
                     /codon_start=1
                     /product="aromatic-L-amino-acid decarboxylase isoform 4"
                     /protein_id="NP_001229817.2"
                     /db_xref="CCDS:CCDS56485.1"
                     /db_xref="GeneID:1644"
                     /db_xref="HGNC:HGNC:2719"
                     /db_xref="MIM:107930"
                     /translation="MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPA
                     AAPQEPDTFEDIINDVEKIIMPGGSASEATLVALLAARTKVIHRLQAASPELTQAAIM
                     EKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFF
                     MVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADS
                     FNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLG
                     RRFRSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFR
                     LKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKEL
                     AADVLRAERE"
     exon            288..422
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            423..566
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            567..633
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            634..728
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            729..796
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            797..873
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            874..893
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            894..992
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            993..1094
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            1095..1313
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            1314..1715
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1696..1701
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /note="hexamer: AATAAA"
     polyA_site      1715
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /note="major polyA site"
ORIGIN      
        1 aactgtcact gtggagagga gagagagagg acagagagca agtcactccc ggctgccttt
       61 ttcacctctg acagagccca gacaccatga acgcaagtga attccgaagg agagggaagg
      121 agatggtgga ttacatggcc aactacatgg aaggcattga gggacgccag gtctaccctg
      181 acgtggagcc cgggtacctg cggccgctga tccctgccgc tgcccctcag gagccagaca
      241 cgtttgagga catcatcaac gacgttgaga agataatcat gcctggggga agtgccagtg
      301 aagccaccct ggtggccctg ctggccgctc ggaccaaagt gatccatcgg ctgcaggcag
      361 cgtccccaga gctcacacag gccgctatca tggagaagct ggtggcttac tcatccgatc
      421 aggcacactc ctcagtggaa agagctgggt taattggtgg agtgaaatta aaagccatcc
      481 cctcagatgg caacttcgcc atgcgtgcgt ctgccctgca ggaagccctg gagagagaca
      541 aagcggctgg cctgattcct ttctttatgg ttgccaccct ggggaccaca acatgctgct
      601 cctttgacaa tctcttagaa gtcggtccta tctgcaacaa ggaagacata tggctgcacg
      661 ttgatgcagc ctacgcaggc agtgcattca tctgccctga gttccggcac cttctgaatg
      721 gagtggagtt tgcagattca ttcaacttta atccccacaa atggctattg gtgaattttg
      781 actgttctgc catgtgggtg aaaaagagaa cagacttaac gggagccttt agactggacc
      841 ccacttacct gaagcacagc catcaggatt cagggcttat cactgactac cggcattggc
      901 agataccact gggcagaaga tttcgctctt tgaaaatgtg gtttgtattt aggatgtatg
      961 gagtcaaagg actgcaggct tatatccgca agcatgtcca gctgtcccat gagtttgagt
     1021 cactggtgcg ccaggatccc cgctttgaaa tctgtgtgga agtcattctg gggcttgtct
     1081 gctttcggct aaagggttcc aacaaagtga atgaagctct tctgcaaaga ataaacagtg
     1141 ccaaaaaaat ccacttggtt ccatgtcacc tcagggacaa gtttgtcctg cgctttgcca
     1201 tctgttctcg cacggtggaa tctgcccatg tgcagcgggc ctgggaacac atcaaagagc
     1261 tggcggccga cgtgctgcga gcagagaggg agtaggagtg aagccagctg caggaatcaa
     1321 aaattgaaga gagatatatc tgaaaactgg aataagaagc aaataaatat catcctgcct
     1381 tcatggaact cagctgtctg tggcttccca tgtctttctc caaagttatc cagagggttg
     1441 tgattttgtc tgcttagtat ctcatcaaca aagaaatatt atttgctaat taaaaagtta
     1501 atcttcatgg ccatagcttt tattcattag ctgtgatttt tgttgattaa aacattatag
     1561 attttcatgt tcttgcagtc atcagaagtg gtaggaaagc ctcactgata tattttccag
     1621 ggcaatcaat gttcacgcaa cttgaaatta tatctgtggt cttcaaattg tcttttgtca
     1681 tgtggctaaa tgcctaataa acaattcaag tgaaa
//
