LOCUS       NM_015423               2767 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens aminoadipate-semialdehyde
            dehydrogenase-phosphopantetheinyl transferase (AASDHPPT), mRNA.
ACCESSION   NM_015423
VERSION     NM_015423.3
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 2767)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 2767)
  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 2767)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 2767)
  AUTHORS   Strickland,K.C., Krupenko,N.I., Dubard,M.E., Hu,C.J., Tsybovsky,Y.
            and Krupenko,S.A.
  TITLE     Enzymatic properties of ALDH1L2, a mitochondrial
            10-formyltetrahydrofolate dehydrogenase
  JOURNAL   Chem Biol Interact 191 (1-3), 129-136 (2011)
   PUBMED   21238436
REFERENCE   5  (bases 1 to 2767)
  AUTHORS   Strickland,K.C., Hoeferlin,L.A., Oleinik,N.V., Krupenko,N.I. and
            Krupenko,S.A.
  TITLE     Acyl carrier protein-specific 4'-phosphopantetheinyl transferase
            activates 10-formyltetrahydrofolate dehydrogenase
  JOURNAL   J Biol Chem 285 (3), 1627-1633 (2010)
   PUBMED   19933275
  REMARK    GeneRIF: Our study identifies human PPT as the FDH-modifying enzyme
            and supports the hypothesis that mammals utilize a single enzyme
            for all phosphopantetheinylation reactions.
REFERENCE   6  (bases 1 to 2767)
  AUTHORS   Gonzales,P.A., Pisitkun,T., Hoffert,J.D., Tchapyjnikov,D.,
            Star,R.A., Kleta,R., Wang,N.S. and Knepper,M.A.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   7  (bases 1 to 2767)
  AUTHORS   Bunkoczi,G., Pasta,S., Joshi,A., Wu,X., Kavanagh,K.L., Smith,S. and
            Oppermann,U.
  TITLE     Mechanism and substrate recognition of human holo ACP synthase
  JOURNAL   Chem Biol 14 (11), 1243-1253 (2007)
   PUBMED   18022563
REFERENCE   8  (bases 1 to 2767)
  AUTHORS   Joshi,A.K., Zhang,L., Rangan,V.S. and Smith,S.
  TITLE     Cloning, expression, and characterization of a human
            4'-phosphopantetheinyl transferase with broad substrate specificity
  JOURNAL   J Biol Chem 278 (35), 33142-33149 (2003)
   PUBMED   12815048
  REMARK    GeneRIF: humans appear to utilize a single, broad specificity
            enzyme, 4'-phosphopantetheine transferase, for all
            posttranslational 4'-phosphopantetheinylation reactions
REFERENCE   9  (bases 1 to 2767)
  AUTHORS   Praphanphoj,V., Sacksteder,K.A., Gould,S.J., Thomas,G.H. and
            Geraghty,M.T.
  TITLE     Identification of the alpha-aminoadipic semialdehyde
            dehydrogenase-phosphopantetheinyl transferase gene, the human
            ortholog of the yeast LYS5 gene
  JOURNAL   Mol Genet Metab 72 (4), 336-342 (2001)
   PUBMED   11286508
REFERENCE   10 (bases 1 to 2767)
  AUTHORS   Hu,R.M., Han,Z.G., Song,H.D., Peng,Y.D., Huang,Q.H., Ren,S.X.,
            Gu,Y.J., Huang,C.H., Li,Y.B., Jiang,C.L., Fu,G., Zhang,Q.H.,
            Gu,B.W., Dai,M., Mao,Y.F., Gao,G.F., Rong,R., Ye,M., Zhou,J.,
            Xu,S.H., Gu,J., Shi,J.X., Jin,W.R., Zhang,C.K., Wu,T.M.,
            Huang,G.Y., Chen,Z., Chen,M.D. and Chen,J.L.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001001.5.
            
            On Nov 26, 2018 this sequence version replaced NM_015423.2.
            
            Summary: The protein encoded by this gene is similar to
            Saccharomyces cerevisiae LYS5, which is required for the activation
            of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway
            of lysine. Yeast alpha-aminoadipate dehydrogenase converts
            alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate.
            It has been suggested that defects in the human gene result in
            pipecolic acidemia. [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 :: SRR1803617.38951.1,
                                           SRR1660809.100712.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278618.9/ ENSP00000278618.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-232               AP001001.5         38237-38468
            233-458             AP001001.5         40042-40267
            459-580             AP001001.5         51132-51253
            581-742             AP001001.5         51891-52052
            743-814             AP001001.5         55158-55229
            815-2767            AP001001.5         57318-59270
FEATURES             Location/Qualifiers
     source          1..2767
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22.3"
     gene            1..2767
                     /gene="AASDHPPT"
                     /gene_synonym="AASD-PPT; ACPS; CGI-80; LYS2; LYS5"
                     /note="aminoadipate-semialdehyde
                     dehydrogenase-phosphopantetheinyl transferase"
                     /db_xref="GeneID:60496"
                     /db_xref="HGNC:HGNC:14235"
                     /db_xref="MIM:607756"
     exon            1..232
                     /gene="AASDHPPT"
                     /gene_synonym="AASD-PPT; ACPS; CGI-80; LYS2; LYS5"
                     /inference="alignment:Splign:2.1.0"
     CDS             50..979
                     /gene="AASDHPPT"
                     /gene_synonym="AASD-PPT; ACPS; CGI-80; LYS2; LYS5"
                     /EC_number="2.7.8.7"
                     /note="alpha-aminoadipic semialdehyde
                     dehydrogenase-phosphopantetheinyl transferase;
                     4'-phosphopantetheinyl transferase; LYS5 ortholog; holo
                     ACP synthase; holo-[acyl-carrier-protein] synthase"
                     /codon_start=1
                     /product="L-aminoadipate-semialdehyde
                     dehydrogenase-phosphopantetheinyl transferase"
                     /protein_id="NP_056238.2"
                     /db_xref="CCDS:CCDS31664.1"
                     /db_xref="GeneID:60496"
                     /db_xref="HGNC:HGNC:14235"
                     /db_xref="MIM:607756"
                     /translation="MVFPAKRFCLVPSMEGVRWAFSCGTWLPSRAEWLLAVRSIQPEE
                     KERIGQFVFARDAKAAMAGRLMIRKLVAEKLNIPWNHIRLQRTAKGKPVLAKDSSNPY
                     PNFNFNISHQGDYAVLAAEPELQVGIDIMKTSFPGRGSIPEFFHIMKRKFTNKEWETI
                     RSFKDEWTQLDMFYRNWALKESFIKAIGVGLGFELQRLEFDLSPLNLDIGQVYKETRL
                     FLDGEEEKEWAFEESKIDEHHFVAVALRKPDGSRHQDVPSQDDSKPTQRQFTILNFND
                     LMSSAVPMTPEDPSFWDCFCFTEEIPIRNGTKS"
     exon            233..458
                     /gene="AASDHPPT"
                     /gene_synonym="AASD-PPT; ACPS; CGI-80; LYS2; LYS5"
                     /inference="alignment:Splign:2.1.0"
     exon            459..580
                     /gene="AASDHPPT"
                     /gene_synonym="AASD-PPT; ACPS; CGI-80; LYS2; LYS5"
                     /inference="alignment:Splign:2.1.0"
     exon            581..742
                     /gene="AASDHPPT"
                     /gene_synonym="AASD-PPT; ACPS; CGI-80; LYS2; LYS5"
                     /inference="alignment:Splign:2.1.0"
     exon            743..814
                     /gene="AASDHPPT"
                     /gene_synonym="AASD-PPT; ACPS; CGI-80; LYS2; LYS5"
                     /inference="alignment:Splign:2.1.0"
     exon            815..2767
                     /gene="AASDHPPT"
                     /gene_synonym="AASD-PPT; ACPS; CGI-80; LYS2; LYS5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1040..1045
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AASDHPPT"
                     /gene_synonym="AASD-PPT; ACPS; CGI-80; LYS2; LYS5"
                     /note="hexamer: AATAAA"
     polyA_site      1063
                     /gene="AASDHPPT"
                     /gene_synonym="AASD-PPT; ACPS; CGI-80; LYS2; LYS5"
                     /note="major polyA site"
     regulatory      2740..2745
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AASDHPPT"
                     /gene_synonym="AASD-PPT; ACPS; CGI-80; LYS2; LYS5"
                     /note="hexamer: AATAAA"
     regulatory      2748..2753
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AASDHPPT"
                     /gene_synonym="AASD-PPT; ACPS; CGI-80; LYS2; LYS5"
                     /note="hexamer: AATGAA"
     polyA_site      2759
                     /gene="AASDHPPT"
                     /gene_synonym="AASD-PPT; ACPS; CGI-80; LYS2; LYS5"
     polyA_site      2767
                     /gene="AASDHPPT"
                     /gene_synonym="AASD-PPT; ACPS; CGI-80; LYS2; LYS5"
                     /note="major polyA site"
ORIGIN      
        1 gcgtccgcgc catcaggccc gagatagcgg cgaggtccgc tttcagtgta tggttttccc
       61 tgccaaacgg ttctgcttgg tgccatccat ggagggcgtg cgctgggcct tttcctgcgg
      121 cacttggctg ccgagccgag ccgaatggct gctggcagtg cgatcgattc agcccgagga
      181 gaaggagcgc attggccagt tcgtctttgc ccgggacgct aaggcagcca tggctggtcg
      241 tctgatgata aggaaattag ttgcagagaa attgaatatc ccttggaatc atattcgttt
      301 gcaaagaact gcaaaaggaa aaccagttct tgcaaaggac tcatcgaatc cttacccgaa
      361 tttcaacttt aacatctctc atcaaggaga ctatgcagtg cttgctgctg aacctgagct
      421 gcaagttgga attgatataa tgaagactag ttttccaggt cgtggttcaa ttccagaatt
      481 ctttcatatt atgaaaagaa agtttaccaa caaagaatgg gaaacaatca gaagctttaa
      541 ggatgagtgg actcagctgg atatgtttta taggaattgg gcacttaagg aaagcttcat
      601 aaaagccatt ggtgttggac taggatttga attgcagcgg cttgaatttg atctatctcc
      661 attaaacttg gatataggcc aagtttataa agaaacacgt ttattcctgg atggagagga
      721 agaaaaagaa tgggcatttg aggaaagcaa aatagatgag caccattttg ttgcagttgc
      781 tcttaggaaa cccgatggat ctagacatca ggatgttcca tctcaggatg attccaaacc
      841 aacccagagg caatttacta ttctcaactt taatgattta atgtcatctg ccgttcccat
      901 gacacctgaa gatccttcat tttgggactg tttttgcttc acagaagaaa ttccaatacg
      961 aaatggtaca aagtcatgat gattccctga gtaacaaagg gaaatgaaaa ctgtttgtga
     1021 tcttccgtat tcactgaaaa ataaatgctt gtttagtatc aaattttatt tcacgaaagt
     1081 ttttttaaag aacagaaact tttccaatta aaaaaaaaaa gcagacttct ggttcaagat
     1141 agctcactgg aatacatgtt tacctctttc tttcctaaat tgcattgaat tgataggaag
     1201 gatggcggaa tcttaaagtg atacatgcta actgtagaaa aaaatagaaa atgcacataa
     1261 gcaaaaggaa acatttaaat gctatctttc aaagataact actcttaaaa ccttgagtat
     1321 cttttcagac ctttttcttg gcaaatgaat ccatattgac atatttgatt tttttaaaaa
     1381 catggaaacg tactgttttg taaattcttt ttaactgcac atctactgtt cataaatata
     1441 cctctgtaac ataacttttt gtggttctaa tgtactctgt tgtatagcta atacaagtta
     1501 ggatgctttt ggccagaggt aacagtgtcc aaatataatt ggcctaagta acctaggaaa
     1561 ttgtttgaca taacacaggg ttcaggggtg tcattaaaga cacacttttt ttgccttgac
     1621 ctcagttggt ttgttttgcc ttaggctatt ccacctctcg atcacaagag ctgctgctat
     1681 aacttccagt tttacatctt tgtaaaattg tatctcaaag gcagaaaagg ccatttcgtc
     1741 tctcatttgt tttatccatg aggaagattt ttaacaaaag cctccagaag atttcccctc
     1801 agtttccatt gacttagatc aggttacaga gaaaggcaat gtctgacatt tttggtctct
     1861 gttagaagta gactctgttg aaaagaaaga agctaagcta ggtgtgaaga atggaattgg
     1921 aagcccactg ccttcccata agaaaggttt accataattt actcactttt ttctgtgtta
     1981 gacattttga ttatctgcag tttattacta caagcagtgg cagagtgaat gtccttgtac
     2041 attttgagtt acatgcttaa ttatgtcctt gagaaagttt ctaaaagtgg aatgattggt
     2101 ttgactggtt catagggctt taattataca atttacccct ctaattagta ctatatgtat
     2161 gtgacttccc tccccctgcc agaatactcc ttggtcaatt gtaggtattc tttttggttt
     2221 aatttttgcc aatgtaatta aaaaatggta tgtcattttt aaaatttgta tttctttcat
     2281 tacaaataag attgttatgt cagtattgtt attggctttt cgtattcctc ttaacgtgaa
     2341 ccgtctgttc attgttttta cctgttttcg ttttagcaag tagtacttaa tttaaagtgt
     2401 gaacttaata tataagatgc caggaccatc atattgatga caaaaatcta ttatgtggtt
     2461 gtagtgcatg tcttggagtt aaactcttaa gtatcaagaa gtaaaataat ttcattgttt
     2521 ctgttactaa cattaaaagt gtgcaaattg tataaaatta ggtacttcga ttagtaaaag
     2581 aaaaaaattt gaatgttttt tttttttatt ttattaagca tgcccagtta tgccaagcat
     2641 agtaaataaa ggtcaagtag catttataat agaggaagta ttgttatccc tagcatgagt
     2701 gtaatggtga tatgaaaaac tttgtcttgt cattataata ataaaaaaat gaacatttat
     2761 tatggaa
//
