LOCUS       NM_001082971            2012 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens dopa decarboxylase (DDC), transcript variant 1, mRNA.
ACCESSION   NM_001082971
VERSION     NM_001082971.2
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 2012)
  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 2012)
  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 2012)
  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 2012)
  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 2012)
  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 2012)
  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 2012)
  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 2012)
  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 2012)
  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 2012)
  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.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001082971.1.
            
            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 (1) has an alternate 5' UTR exon
            and encodes the same isoform (1), compared to variant 2.
            
            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 :: M88700.1, SRR14038193.3587405.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000444124.7/ ENSP00000403644.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-121               AC018705.10        157799-157919       c
            122-350             AC018705.10        136400-136628       c
            351-464             AC018705.10        132430-132543       c
            465-584             AC018705.10        130375-130494       c
            585-719             AC018705.10        121723-121857       c
            720-863             AC018705.10        120652-120795       c
            864-930             AC018705.10        96508-96574         c
            931-1025            AC018705.10        91663-91757         c
            1026-1093           AC018705.10        87865-87932         c
            1094-1170           AC018705.10        72302-72378         c
            1171-1190           AC018705.10        69139-69158         c
            1191-1289           AC018705.10        62588-62686         c
            1290-1391           AC018705.10        59729-59830         c
            1392-1610           AC018705.10        55728-55946         c
            1611-2012           AC018705.10        50957-51358         c
FEATURES             Location/Qualifiers
     source          1..2012
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p12.2-p12.1"
     gene            1..2012
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /note="dopa decarboxylase"
                     /db_xref="GeneID:1644"
                     /db_xref="HGNC:HGNC:2719"
                     /db_xref="MIM:107930"
     exon            1..121
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            122..350
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     CDS             150..1592
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /EC_number="4.1.1.28"
                     /note="isoform 1 is encoded by transcript variant 1;
                     aromatic-L-amino-acid decarboxylase; dopa decarboxylase
                     (aromatic L-amino acid decarboxylase)"
                     /codon_start=1
                     /product="aromatic-L-amino-acid decarboxylase isoform 1"
                     /protein_id="NP_001076440.2"
                     /db_xref="CCDS:CCDS5511.1"
                     /db_xref="GeneID:1644"
                     /db_xref="HGNC:HGNC:2719"
                     /db_xref="MIM:107930"
                     /translation="MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPA
                     AAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYFPTASSYPAMLADMLCGAIGCIG
                     FSWAASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAAR
                     TKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMR
                     ASALQEALERDKAAGLIPFFMVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAG
                     SAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYLK
                     HSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLV
                     RQDPRFEICVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAI
                     CSRTVESAHVQRAWEHIKELAADVLRAERE"
     exon            351..464
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            465..584
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            585..719
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            720..863
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            864..930
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            931..1025
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1093
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..1170
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            1171..1190
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            1191..1289
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            1290..1391
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            1392..1610
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     exon            1611..2012
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1993..1998
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /note="hexamer: AATAAA"
     polyA_site      2012
                     /gene="DDC"
                     /gene_synonym="AADC"
                     /note="major polyA site"
ORIGIN      
        1 aagaagagtg actgtctcag tgccgagtgc ctcagcagct tctccacatg ctcttcagtc
       61 cccaaagttg gagaatccca tcaaggagag tagccctgta aggaattcga atttccagca
      121 tttttcacct ctgacagagc ccagacacca tgaacgcaag tgaattccga aggagaggga
      181 aggagatggt ggattacatg gccaactaca tggaaggcat tgagggacgc caggtctacc
      241 ctgacgtgga gcccgggtac ctgcggccgc tgatccctgc cgctgcccct caggagccag
      301 acacgtttga ggacatcatc aacgacgttg agaagataat catgcctggg gtgacgcact
      361 ggcacagccc ctacttcttc gcctacttcc ccactgccag ctcgtacccg gccatgcttg
      421 cggacatgct gtgcggggcc attggctgca tcggcttctc ctgggcggca agcccagcat
      481 gcacagagct ggagactgtg atgatggact ggctcgggaa gatgctggaa ctaccaaagg
      541 catttttgaa tgagaaagct ggagaagggg gaggagtgat ccagggaagt gccagtgaag
      601 ccaccctggt ggccctgctg gccgctcgga ccaaagtgat ccatcggctg caggcagcgt
      661 ccccagagct cacacaggcc gctatcatgg agaagctggt ggcttactca tccgatcagg
      721 cacactcctc agtggaaaga gctgggttaa ttggtggagt gaaattaaaa gccatcccct
      781 cagatggcaa cttcgccatg cgtgcgtctg ccctgcagga agccctggag agagacaaag
      841 cggctggcct gattcctttc tttatggttg ccaccctggg gaccacaaca tgctgctcct
      901 ttgacaatct cttagaagtc ggtcctatct gcaacaagga agacatatgg ctgcacgttg
      961 atgcagccta cgcaggcagt gcattcatct gccctgagtt ccggcacctt ctgaatggag
     1021 tggagtttgc agattcattc aactttaatc cccacaaatg gctattggtg aattttgact
     1081 gttctgccat gtgggtgaaa aagagaacag acttaacggg agcctttaga ctggacccca
     1141 cttacctgaa gcacagccat caggattcag ggcttatcac tgactaccgg cattggcaga
     1201 taccactggg cagaagattt cgctctttga aaatgtggtt tgtatttagg atgtatggag
     1261 tcaaaggact gcaggcttat atccgcaagc atgtccagct gtcccatgag tttgagtcac
     1321 tggtgcgcca ggatccccgc tttgaaatct gtgtggaagt cattctgggg cttgtctgct
     1381 ttcggctaaa gggttccaac aaagtgaatg aagctcttct gcaaagaata aacagtgcca
     1441 aaaaaatcca cttggttcca tgtcacctca gggacaagtt tgtcctgcgc tttgccatct
     1501 gttctcgcac ggtggaatct gcccatgtgc agcgggcctg ggaacacatc aaagagctgg
     1561 cggccgacgt gctgcgagca gagagggagt aggagtgaag ccagctgcag gaatcaaaaa
     1621 ttgaagagag atatatctga aaactggaat aagaagcaaa taaatatcat cctgccttca
     1681 tggaactcag ctgtctgtgg cttcccatgt ctttctccaa agttatccag agggttgtga
     1741 ttttgtctgc ttagtatctc atcaacaaag aaatattatt tgctaattaa aaagttaatc
     1801 ttcatggcca tagcttttat tcattagctg tgatttttgt tgattaaaac attatagatt
     1861 ttcatgttct tgcagtcatc agaagtggta ggaaagcctc actgatatat tttccagggc
     1921 aatcaatgtt cacgcaactt gaaattatat ctgtggtctt caaattgtct tttgtcatgt
     1981 ggctaaatgc ctaataaaca attcaagtga aa
//
