LOCUS       NM_024664               2269 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens phosphopantothenoylcysteine synthetase (PPCS),
            transcript variant 1, mRNA.
ACCESSION   NM_024664
VERSION     NM_024664.4
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 2269)
  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   2  (bases 1 to 2269)
  AUTHORS   Iuso,A., Wiersma,M., Schuller,H.J., Pode-Shakked,B.,
            Marek-Yagel,D., Grigat,M., Schwarzmayr,T., Berutti,R., Alhaddad,B.,
            Kanon,B., Grzeschik,N.A., Okun,J.G., Perles,Z., Salem,Y., Barel,O.,
            Vardi,A., Rubinshtein,M., Tirosh,T., Dubnov-Raz,G., Messias,A.C.,
            Terrile,C., Barshack,I., Volkov,A., Avivi,C., Eyal,E.,
            Mastantuono,E., Kumbar,M., Abudi,S., Braunisch,M., Strom,T.M.,
            Meitinger,T., Hoffmann,G.F., Prokisch,H., Haack,T.B.,
            Brundel,B.J.J.M., Haas,D., Sibon,O.C.M. and Anikster,Y.
  TITLE     Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase,
            Cause Autosomal-Recessive Dilated Cardiomyopathy
  JOURNAL   Am J Hum Genet 102 (6), 1018-1030 (2018)
   PUBMED   29754768
  REMARK    GeneRIF: Exome sequencing in five individuals from two unrelated
            families presenting with dilated cardiomyopathy revealed biallelic
            mutations in PPCS.
REFERENCE   3  (bases 1 to 2269)
  AUTHORS   Yao,J. and Dotson,G.D.
  TITLE     Kinetic characterization of human phosphopantothenoylcysteine
            synthetase
  JOURNAL   Biochim Biophys Acta 1794 (12), 1743-1750 (2009)
   PUBMED   19683078
  REMARK    GeneRIF: Oxygen transfer studies found that 18O from [carboxyl-18O]
            phosphopantothenate is incorporated into AMP or CMP produced during
            PPCS catalysis, consistent with the formation of a
            phosphopantothenoyl cytidylate or phosphopantothenoyl adenylate
            intermediate
REFERENCE   4  (bases 1 to 2269)
  AUTHORS   Tsuritani,K., Irie,T., Yamashita,R., Sakakibara,Y., Wakaguri,H.,
            Kanai,A., Mizushima-Sugano,J., Sugano,S., Nakai,K. and Suzuki,Y.
  TITLE     Distinct class of putative 'non-conserved' promoters in humans:
            comparative studies of alternative promoters of human and mouse
            genes
  JOURNAL   Genome Res 17 (7), 1005-1014 (2007)
   PUBMED   17567985
REFERENCE   5  (bases 1 to 2269)
  AUTHORS   Manoj,N., Strauss,E., Begley,T.P. and Ealick,S.E.
  TITLE     Structure of human phosphopantothenoylcysteine synthetase at 2.3 A
            resolution
  JOURNAL   Structure 11 (8), 927-936 (2003)
   PUBMED   12906824
REFERENCE   6  (bases 1 to 2269)
  AUTHORS   Daugherty,M., Polanuyer,B., Farrell,M., Scholle,M., Lykidis,A., de
            Crecy-Lagard,V. and Osterman,A.
  TITLE     Complete reconstitution of the human coenzyme A biosynthetic
            pathway via comparative genomics
  JOURNAL   J Biol Chem 277 (24), 21431-21439 (2002)
   PUBMED   11923312
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC112015.1 and AL445669.9.
            
            On Nov 22, 2018 this sequence version replaced NM_024664.3.
            
            Summary: Biosynthesis of coenzyme A (CoA) from pantothenic acid
            (vitamin B5) is an essential universal pathway in prokaryotes and
            eukaryotes. PPCS (EC 6.3.2.5), one of the last enzymes in this
            pathway, converts phosphopantothenate to
            phosphopantothenoylcysteine (Daugherty et al., 2002 [PubMed
            11923312]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.270241.1,
                                           SRR1660803.58585.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372561.4/ ENSP00000361642.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1341              BC112015.1         50-1390
            1342-2269           AL445669.9         25447-26374
FEATURES             Location/Qualifiers
     source          1..2269
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     gene            1..2269
                     /gene="PPCS"
                     /gene_synonym="CMD2C"
                     /note="phosphopantothenoylcysteine synthetase"
                     /db_xref="GeneID:79717"
                     /db_xref="HGNC:HGNC:25686"
                     /db_xref="MIM:609853"
     exon            1..531
                     /gene="PPCS"
                     /gene_synonym="CMD2C"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..959
                     /gene="PPCS"
                     /gene_synonym="CMD2C"
                     /EC_number="6.3.2.51"
                     /note="isoform a is encoded by transcript variant 1;
                     phosphopantothenate--cysteine ligase; PPC synthetase"
                     /codon_start=1
                     /product="phosphopantothenate--cysteine ligase isoform a"
                     /protein_id="NP_078940.2"
                     /db_xref="CCDS:CCDS41311.1"
                     /db_xref="GeneID:79717"
                     /db_xref="HGNC:HGNC:25686"
                     /db_xref="MIM:609853"
                     /translation="MAEMDPVAEFPQPPGAARWAEVMARFAARLGAQGRRVVLVTSGG
                     TKVPLEARPVRFLDNFSSGRRGATSAEAFLAAGYGVLFLYRARSAFPYAHRFPPQTWL
                     SALRPSGPALSGLLSLEAEENALPGFAEALRSYQEAAAAGTFLAVEFTTLADYLHLLQ
                     AAAQALNPLGPSAMFYLAAAVSDFYVPVSEMPEHKIQSSGGPLQITMKMVPKLLSPLV
                     KDWAPKAFIISFKLETDPAIVINRARKALEIYQHQVVVANILESRQSFVFIVTKDSET
                     KLLLSEEEIEKGVEIEEKIVDNLQSRHTAFIGDRN"
     exon            532..635
                     /gene="PPCS"
                     /gene_synonym="CMD2C"
                     /inference="alignment:Splign:2.1.0"
     exon            636..2269
                     /gene="PPCS"
                     /gene_synonym="CMD2C"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1410..1415
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPCS"
                     /gene_synonym="CMD2C"
                     /note="hexamer: AATAAA"
     polyA_site      1448
                     /gene="PPCS"
                     /gene_synonym="CMD2C"
                     /note="major polyA site"
     regulatory      2239..2244
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPCS"
                     /gene_synonym="CMD2C"
                     /note="hexamer: AATAAA"
     polyA_site      2269
                     /gene="PPCS"
                     /gene_synonym="CMD2C"
ORIGIN      
        1 aggcgccggc cgctgcgctg cagatggcgg aaatggatcc ggtagccgag ttcccccagc
       61 ctcccggtgc tgcgcgctgg gctgaggtta tggctcgctt cgcggccagg ctgggcgcgc
      121 agggccggcg ggtggtgttg gttacgtcag gcggcaccaa ggtcccactg gaagcgcggc
      181 cggtgcgctt cctggacaac ttcagcagcg ggcggcgcgg tgcaacctcg gccgaggcct
      241 tcctagccgc cggctacggg gtcctgttct tgtatcgcgc tcgctctgcc ttcccctatg
      301 cccaccgctt cccaccccag acttggctgt ccgctctgcg gccttcgggc ccagcccttt
      361 cgggcttgct gagcctggag gccgaggaga atgcacttcc gggttttgct gaggctctga
      421 ggagctacca ggaggctgcg gctgcaggca ccttcctggc agtagagttc accactttgg
      481 cggactattt gcatctgttg caggctgcgg cccaggcact caatccgcta ggcccttctg
      541 cgatgtttta cctggctgcg gctgtgtcag atttctatgt tcctgtctct gaaatgcctg
      601 aacacaagat ccagtcatct gggggcccac tgcagataac aatgaagatg gtgccaaaac
      661 tgctttctcc tttggttaaa gattgggctc ccaaagcatt tataatttcc tttaagttgg
      721 agactgaccc cgccattgta attaatcgag ctcggaaggc tttggaaatt tatcagcatc
      781 aagtggtggt ggctaatatc cttgagtcac gacagtcctt tgtgtttatt gtaaccaaag
      841 actcggaaac caagttattg ctatcagagg aagaaataga aaaaggcgta gagatagaag
      901 agaagatagt ggataatctt cagtctcgac acacagcttt tataggtgac agaaactgaa
      961 gtaaaaagcc cttataggat caaaaattgt tcagggctct tagagatggt gaaaactaca
     1021 aaaaaaacca tggctttcat atggacagat aaaatgaaag aaagggaaaa ggcagtggtg
     1081 tgtaggcaaa tatggtttgg catttgtctt ttaatgacac ctgatatgat gtcattttga
     1141 ttttgaaatt gaacactaga actgttaatc acctttaaaa agaagagctt attgggaatt
     1201 atatattcct taaaatatac atgggggcct gaatgtcagc catctttata ctatagaaaa
     1261 aggattatgg atgcatgaat ggtcatgctt tggagatcaa atattggttg aatgcctatg
     1321 tatgtcaggc cctgtgctga gccatgagga ttaaaaagat gaataaacat atcttgttta
     1381 ggaaatggat gtataaaaaa atcaagtgca ataaagtgtg tgtccaaaag ctgacacaat
     1441 ggaaaggatg ttttgttttg tttgaaattt atcaaatata gtagtaggaa agaaggatac
     1501 ctccctgaag atagattgta gaatggtgag cttttcactg catttacttt ttgcttctta
     1561 ttgtagattc acctcatgtt tgggtaatag tttacatttc aagtatttta ggactgcttt
     1621 tcagtttaac ttaatatgtc cttccacctg ggaccaggca ggggccactt ggtgatctct
     1681 gtcctgaggg atgcattaca gtgtggtaga gtatgggcta gaagtcaact tagccagctg
     1741 tgccacctat tagctttata aacttaggca tttgacttaa tctcagtgtc cacatgcata
     1801 aaatgaggat aatctctctg caaagtaatg ccatttattg tgaggatcaa atgaaatagc
     1861 aaaaagaaag catcagtctg gtgcctagca tttgattcac actcactaaa tggttgcaat
     1921 tattgttttt ctcacttagc aaagcagtgt tacaccactg ccctgcttaa tctttgaatc
     1981 cttgagaatc tttgaaaaac tttcaatact tctcttgctg tcctacgttt tgggtttgga
     2041 gtgcacaagt agcatagtgc aaaaaaattc cctaaatgat ctgtaggata gtccaggtgc
     2101 aatttgaaaa attagcattg atgactaagg tagaagcagg tactgtgttt cacataaata
     2161 tttgacttaa aatacaattc atggtgtttc atggagtagg gaagggtagc ccctgtgtct
     2221 gtctgataat agaagtacaa taaatttaat tgagaagatt tgacagaaa
//
