LOCUS       NM_138326               1252 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens aminocarboxymuconate semialdehyde decarboxylase
            (ACMSD), transcript variant 1, mRNA.
ACCESSION   NM_138326
VERSION     NM_138326.3
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 1252)
  AUTHORS   Yilmaz,N.S., Sen,B., Karadag,R.F., Aslan,S., Ekmekci Ertek,I.,
            Bozkurt,A., Cicek,S., Bolu,A., Ucar,H., Kocak,C., Cevik,C. and
            Bukan,N.
  TITLE     A kynurenine pathway enzyme aminocarboxymuconate-semialdehyde
            decarboxylase may be involved in treatment-resistant depression,
            and baseline inflammation status of patients predicts treatment
            response: a pilot study
  JOURNAL   J Neural Transm (Vienna) 129 (12), 1513-1526 (2022)
   PUBMED   36334154
  REMARK    GeneRIF: A kynurenine pathway enzyme
            aminocarboxymuconate-semialdehyde decarboxylase may be involved in
            treatment-resistant depression, and baseline inflammation status of
            patients predicts treatment response: a pilot study.
            Erratum:[J Neural Transm (Vienna). 2023 Oct;130(10):1315. doi:
            10.1007/s00702-022-02573-7.. PMID: 36515768]
REFERENCE   2  (bases 1 to 1252)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1252)
  AUTHORS   Palzer,L., Bader,J.J., Angel,F., Witzel,M., Blaser,S., McNeil,A.,
            Wandersee,M.K., Leu,N.A., Lengner,C.J., Cho,C.E., Welch,K.D.,
            Kirkland,J.B., Meyer,R.G. and Meyer-Ficca,M.L.
  TITLE     Alpha-Amino-Beta-Carboxy-Muconate-Semialdehyde Decarboxylase
            Controls Dietary Niacin Requirements for NAD+ Synthesis
  JOURNAL   Cell Rep 25 (5), 1359-1370 (2018)
   PUBMED   30380424
  REMARK    GeneRIF: This study shows that ACMSD is a key regulator of
            mammalian dietary niacin requirements and NAD(+) metabolism.
REFERENCE   4  (bases 1 to 1252)
  AUTHORS   Brundin,L., Sellgren,C.M., Lim,C.K., Grit,J., Palsson,E.,
            Landen,M., Samuelsson,M., Lundgren,K., Brundin,P., Fuchs,D.,
            Postolache,T.T., Traskman-Bendz,L., Guillemin,G.J. and Erhardt,S.
  TITLE     An enzyme in the kynurenine pathway that governs vulnerability to
            suicidal behavior by regulating excitotoxicity and
            neuroinflammation
  JOURNAL   Transl Psychiatry 6 (8), e865 (2016)
   PUBMED   27483383
  REMARK    GeneRIF: The minor C allele of the ACMSD SNP rs2121337 was more
            prevalent in suicide attempters.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1252)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   6  (bases 1 to 1252)
  AUTHORS   Nalls,M.A., Plagnol,V., Hernandez,D.G., Sharma,M., Sheerin,U.M.,
            Saad,M., Simon-Sanchez,J., Schulte,C., Lesage,S.,
            Sveinbjornsdottir,S., Stefansson,K., Martinez,M., Hardy,J.,
            Heutink,P., Brice,A., Gasser,T., Singleton,A.B. and Wood,N.W.
  CONSRTM   International Parkinson Disease Genomics Consortium
  TITLE     Imputation of sequence variants for identification of genetic risks
            for Parkinson's disease: a meta-analysis of genome-wide association
            studies
  JOURNAL   Lancet 377 (9766), 641-649 (2011)
   PUBMED   21292315
REFERENCE   7  (bases 1 to 1252)
  AUTHORS   Garavaglia,S., Perozzi,S., Galeazzi,L., Raffaelli,N. and Rizzi,M.
  TITLE     The crystal structure of human
            alpha-amino-beta-carboxymuconate-epsilon-semialdehyde decarboxylase
            in complex with 1,3-dihydroxyacetonephosphate suggests a regulatory
            link between NAD synthesis and glycolysis
  JOURNAL   FEBS J 276 (22), 6615-6623 (2009)
   PUBMED   19843166
  REMARK    GeneRIF: Data report a crystal structure of human ACMSD in complex
            with the glycolytic intermediate 1,3-dihydroxyacetonephosphate
            (DHAP),suggesting a regulatory link between NAD synthesis and
            glycolysis.
REFERENCE   8  (bases 1 to 1252)
  AUTHORS   Pucci,L., Perozzi,S., Cimadamore,F., Orsomando,G. and Raffaelli,N.
  TITLE     Tissue expression and biochemical characterization of human 2-amino
            3-carboxymuconate 6-semialdehyde decarboxylase, a key enzyme in
            tryptophan catabolism
  JOURNAL   FEBS J 274 (3), 827-840 (2007)
   PUBMED   17288562
REFERENCE   9  (bases 1 to 1252)
  AUTHORS   Fukuwatari,T., Ohsaki,S., Fukuoka,S., Sasaki,R. and Shibata,K.
  TITLE     Phthalate esters enhance quinolinate production by inhibiting
            alpha-amino-beta-carboxymuconate-epsilon-semialdehyde decarboxylase
            (ACMSD), a key enzyme of the tryptophan pathway
  JOURNAL   Toxicol Sci 81 (2), 302-308 (2004)
   PUBMED   15229365
  REMARK    GeneRIF: Limits production of the glutamatergic excitotoxin
            quinolinate, by diverting it to picolinate; inhibited by
            phthalates, by virtue of their structural similarity to nicotinate.
REFERENCE   10 (bases 1 to 1252)
  AUTHORS   Fukuoka,S., Ishiguro,K., Yanagihara,K., Tanabe,A., Egashira,Y.,
            Sanada,H. and Shibata,K.
  TITLE     Identification and expression of a cDNA encoding human
            alpha-amino-beta-carboxymuconate-epsilon-semialdehyde decarboxylase
            (ACMSD). A key enzyme for the tryptophan-niacine pathway and
            'quinolinate hypothesis'
  JOURNAL   J Biol Chem 277 (38), 35162-35167 (2002)
   PUBMED   12140278
  REMARK    GeneRIF: identification and expression of cDNA
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG428338.1, BC107420.1 and BC016018.1.
            
            On Nov 23, 2018 this sequence version replaced NM_138326.2.
            
            Summary: The neuronal excitotoxin quinolinate is an intermediate in
            the de novo synthesis pathway of NAD from tryptophan, and has been
            implicated in the pathogenesis of several neurodegenerative
            disorders. Quinolinate is derived from
            alpha-amino-beta-carboxy-muconate-epsilon-semialdehyde (ACMS).
            ACMSD (ACMS decarboxylase; EC 4.1.1.45) can divert ACMS to a benign
            catabolite and thus prevent the accumulation of quinolinate from
            ACMS.[supplied by OMIM, Oct 2004].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: SRR5189664.16892.1,
                                           SRR5189664.139493.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145122
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356140.10/ ENSP00000348459.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-63                BG428338.1         2-64
            64-1248             BC107420.1         4-1188
            1249-1252           BC016018.1         1308-1311
FEATURES             Location/Qualifiers
     source          1..1252
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q21.3"
     gene            1..1252
                     /gene="ACMSD"
                     /note="aminocarboxymuconate semialdehyde decarboxylase"
                     /db_xref="GeneID:130013"
                     /db_xref="HGNC:HGNC:19288"
                     /db_xref="MIM:608889"
     exon            1..124
                     /gene="ACMSD"
                     /inference="alignment:Splign:2.1.0"
     CDS             68..1078
                     /gene="ACMSD"
                     /EC_number="4.1.1.45"
                     /note="isoform 1 is encoded by transcript variant 1;
                     2-amino-3-carboxymuconate-6-semialdehyde decarboxylase;
                     picolinate carboxylase"
                     /codon_start=1
                     /product="2-amino-3-carboxymuconate-6-semialdehyde
                     decarboxylase isoform 1"
                     /protein_id="NP_612199.2"
                     /db_xref="CCDS:CCDS2173.2"
                     /db_xref="GeneID:130013"
                     /db_xref="HGNC:HGNC:19288"
                     /db_xref="MIM:608889"
                     /translation="MKIDIHSHILPKEWPDLKKRFGYGGWVQLQHHSKGEAKLLKDGK
                     VFRVVRENCWDPEVRIREMDQKGVTVQALSTVPVMFSYWAKPEDTLNLCQLLNNDLAS
                     TVVSYPRRFVGLGTLPMQAPELAVKEMERCVKELGFPGVQIGTHVNEWDLNAQELFPV
                     YAAAERLKCSLFVHPWDMQMDGRMAKYWLPWLVGMPAETTIAICSMIMGGVFEKFPKL
                     KVCFAHGGGAFPFTVGRISHGFSMRPDLCAQDNPMNPKKYLGSFYTDALVHDPLSLKL
                     LTDVIGKDKVILGTDYPFPLGELEPGKLIESMEEFDEETKNKLKAGNALAFLGLERKQ
                     FE"
     exon            125..169
                     /gene="ACMSD"
                     /inference="alignment:Splign:2.1.0"
     exon            170..266
                     /gene="ACMSD"
                     /inference="alignment:Splign:2.1.0"
     exon            267..316
                     /gene="ACMSD"
                     /inference="alignment:Splign:2.1.0"
     exon            317..553
                     /gene="ACMSD"
                     /inference="alignment:Splign:2.1.0"
     exon            554..647
                     /gene="ACMSD"
                     /inference="alignment:Splign:2.1.0"
     exon            648..743
                     /gene="ACMSD"
                     /inference="alignment:Splign:2.1.0"
     exon            744..916
                     /gene="ACMSD"
                     /inference="alignment:Splign:2.1.0"
     exon            917..1015
                     /gene="ACMSD"
                     /inference="alignment:Splign:2.1.0"
     exon            1016..1252
                     /gene="ACMSD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1217..1222
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACMSD"
                     /note="hexamer: AATAAA"
     polyA_site      1252
                     /gene="ACMSD"
ORIGIN      
        1 acagttttca caaaggtctc ttgatatcaa aacttctttc cttgcatgct tctctgatcc
       61 tgtggagatg aaaattgaca tccatagtca tattctacca aaagaatggc cagatctaaa
      121 aaagaggttt ggctacggag gctgggtgca gctccaacac cacagcaagg gagaagcaaa
      181 gttgttgaaa gatgggaaag tcttcagagt ggtgcgagag aattgctggg atccagaagt
      241 tcgtattaga gaaatggacc aaaaaggagt aacagtgcaa gccctttcca cagttcctgt
      301 catgtttagc tactgggcca aacctgagga cactttaaac ctgtgccagc ttttaaacaa
      361 cgaccttgcc agcaccgttg tgagctaccc caggaggttc gtgggtctgg ggacgttgcc
      421 catgcaggcc cctgagctgg cggtcaagga gatggagcgc tgtgtgaaag agctgggctt
      481 tcccggggtc caaattggca cccacgtcaa cgagtgggac ctgaacgcgc aggagctctt
      541 tcctgtctat gcggcagccg aaaggctgaa gtgttccctg ttcgtgcatc cctgggacat
      601 gcagatggat ggacgaatgg ccaaatactg gctcccttgg cttgtaggaa tgccagcaga
      661 gaccaccata gccatttgct ccatgatcat gggtggagta tttgagaagt ttcccaaact
      721 gaaagtgtgt ttcgcacatg gtggtggtgc cttccccttc acagtgggaa gaatctccca
      781 tggattcagc atgcgcccag atctgtgtgc ccaggacaac cccatgaacc cgaagaaata
      841 ccttggttcc ttttacacag atgctttggt tcatgatcct ctgtccctca agctgttaac
      901 agatgtcata ggaaaggata aagtcatttt gggaaccgat tacccctttc cactaggtga
      961 gctggaacct gggaaactaa tagagtccat ggaagaattt gatgaagaaa caaagaataa
     1021 actcaaagcc ggcaatgccc tggcattttt gggtcttgag agaaaacaat ttgaatgact
     1081 gaatttacta caaaggcaaa ctttcaaaag gatatctcat ttttgtttct aaatatgtat
     1141 caacaggtat caacaaaatc ctattttgaa ctattttact cagaaatgaa tgtcccaaat
     1201 atcctaaatt attcataata aaaatgattt gtaagtgttt tcattctgaa aa
//
