LOCUS       NM_025233               2479 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens Coenzyme A synthase (COASY), transcript variant 1,
            mRNA.
ACCESSION   NM_025233
VERSION     NM_025233.7
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 2479)
  AUTHORS   Cavestro,C., Morra,F., Legati,A., D'Amato,M., Nasca,A., Iuso,A.,
            Lubarr,N., Morrison,J.L., Wheeler,P.G., Serra-Juhe,C.,
            Rodriguez-Santiago,B., Turon-Vinas,E., Prouteau,C., Barth,M.,
            Hayflick,S.J., Ghezzi,D., Tiranti,V. and Di Meo,I.
  TITLE     Emerging variants, unique phenotypes, and transcriptomic
            signatures: an integrated study of COASY-associated diseases
  JOURNAL   Ann Clin Transl Neurol 11 (6), 1615-1629 (2024)
   PUBMED   38750253
  REMARK    GeneRIF: Emerging variants, unique phenotypes, and transcriptomic
            signatures: an integrated study of COASY-associated diseases.
REFERENCE   2  (bases 1 to 2479)
  AUTHORS   Rosati,J., Johnson,J., Stander,Z., White,A., Tortorelli,S.,
            Bailey,D., Fong,C.T. and Lee,B.H.
  TITLE     Progressive brain atrophy and severe neurodevelopmental phenotype
            in siblings with biallelic COASY variants
  JOURNAL   Am J Med Genet A 191 (3), 842-845 (2023)
   PUBMED   36495139
  REMARK    GeneRIF: Progressive brain atrophy and severe neurodevelopmental
            phenotype in siblings with biallelic COASY variants.
REFERENCE   3  (bases 1 to 2479)
  AUTHORS   Chevalier,B., Baatallah,N., Najm,M., Castanier,S., Jung,V.,
            Pranke,I., Golec,A., Stoven,V., Marullo,S., Antigny,F.,
            Guerrera,I.C., Sermet-Gaudelus,I., Edelman,A. and Hinzpeter,A.
  TITLE     Differential CFTR-Interactome Proximity Labeling Procedures
            Identify Enrichment in Multiple SLC Transporters
  JOURNAL   Int J Mol Sci 23 (16), 8937 (2022)
   PUBMED   36012204
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2479)
  AUTHORS   Mishra,R., Kulshreshtha,S., Mandal,K., Khurana,A.,
            Diego-Alvarez,D., Pradas,L., Saxena,R., Phadke,S., Moirangthem,A.,
            Masih,S., Sud,S., Verma,I.C. and Dua Puri,R.
  TITLE     COASY related pontocerebellar hypoplasia type 12: A common Indian
            mutation with expansion of the phenotypic spectrum
  JOURNAL   Am J Med Genet A 188 (8), 2339-2350 (2022)
   PUBMED   35499143
  REMARK    GeneRIF: COASY related pontocerebellar hypoplasia type 12: A common
            Indian mutation with expansion of the phenotypic spectrum.
REFERENCE   5  (bases 1 to 2479)
  AUTHORS   Nemazanyy,I., Panasyuk,G., Breus,O., Zhyvoloup,A., Filonenko,V. and
            Gout,I.T.
  TITLE     Identification of a novel CoA synthase isoform, which is primarily
            expressed in the brain
  JOURNAL   Biochem Biophys Res Commun 341 (4), 995-1000 (2006)
   PUBMED   16460672
  REMARK    GeneRIF: description of the existence of a novel CoA synthase
            isoform, which is the product of alternative splicing and possesses
            a 29aa extension at the N-terminus; termed it CoASy beta
REFERENCE   6  (bases 1 to 2479)
  AUTHORS   Aghajanian,S. and Worrall,D.M.
  TITLE     Identification and characterization of the gene encoding the human
            phosphopantetheine adenylyltransferase and dephospho-CoA kinase
            bifunctional enzyme (CoA synthase)
  JOURNAL   Biochem J 365 (Pt 1), 13-18 (2002)
   PUBMED   11994049
  REMARK    GeneRIF: Identification and characterization of the gene encoding
            the human phosphopantetheine adenylyltransferase and dephospho-CoA
            kinase bifunctional enzyme (CoA synthase).
REFERENCE   7  (bases 1 to 2479)
  AUTHORS   Zhyvoloup,A., Nemazanyy,I., Babich,A., Panasyuk,G., Pobigailo,N.,
            Vudmaska,M., Naidenov,V., Kukharenko,O., Palchevskii,S.,
            Savinska,L., Ovcharenko,G., Verdier,F., Valovka,T., Fenton,T.,
            Rebholz,H., Wang,M.L., Shepherd,P., Matsuka,G., Filonenko,V. and
            Gout,I.T.
  TITLE     Molecular cloning of CoA Synthase. The missing link in CoA
            biosynthesis
  JOURNAL   J Biol Chem 277 (25), 22107-22110 (2002)
   PUBMED   11980892
REFERENCE   8  (bases 1 to 2479)
  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
REFERENCE   9  (bases 1 to 2479)
  AUTHORS   Montagna,M., Serova,O., Sylla,B.S., Feunteun,J. and Lenoir,G.M.
  TITLE     A 100-kb physical and transcriptional map around the EDH17B2 gene:
            identification of three novel genes and a pseudogene of a human
            homologue of the rat PRL-1 tyrosine phosphatase
  JOURNAL   Hum Genet 96 (5), 532-538 (1995)
   PUBMED   8529999
REFERENCE   10 (bases 1 to 2479)
  AUTHORS   Gregory,A. and Hayflick,S.
  TITLE     Neurodegeneration with Brain Iron Accumulation Disorders Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23447832
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA786254.1, AK075415.1,
            BM781531.1 and BC020985.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_025233.6.
            
            Summary: Coenzyme A (CoA) functions as a carrier of acetyl and acyl
            groups in cells and thus plays an important role in numerous
            synthetic and degradative metabolic pathways in all organisms. In
            eukaryotes, CoA and its derivatives are also involved in membrane
            trafficking and signal transduction. This gene encodes the
            bifunctional protein coenzyme A synthase (CoAsy) which carries out
            the last two steps in the biosynthesis of CoA from pantothenic acid
            (vitamin B5). The phosphopantetheine adenylyltransferase domain of
            this bifunctional protein catalyzes the conversion of
            4'-phosphopantetheine into dephospho-coenzyme A (dpCoA) while its
            dephospho-CoA kinase domain completes the final step by
            phosphorylating dpCoA to form CoA. Mutations in this gene are
            associated with neurodegeneration with brain iron accumulation
            (NBIA). Alternative splicing results in multiple isoforms.
            [provided by RefSeq, Apr 2014].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes isoform a (also known as CoASy alpha). Both
            variants 1 and 2 encode the same isoform.
            
            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 :: SRR3476690.141436.1,
                                           SRR1803611.198141.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 14514684
            MANE Ensembl match                 :: ENST00000393818.3/
                                                  ENSP00000377406.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                DA786254.1         75-93
            20-638              AK075415.1         1-619
            639-747             BM781531.1         500-608
            748-1416            AK075415.1         729-1397
            1417-2479           BC020985.1         667-1729
FEATURES             Location/Qualifiers
     source          1..2479
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..2479
                     /gene="COASY"
                     /gene_synonym="DPCK; NBIA6; NBP; PCH12; pOV-2; PPAT; UKR1"
                     /note="Coenzyme A synthase"
                     /db_xref="GeneID:80347"
                     /db_xref="HGNC:HGNC:29932"
                     /db_xref="MIM:609855"
     exon            1..1175
                     /gene="COASY"
                     /gene_synonym="DPCK; NBIA6; NBP; PCH12; pOV-2; PPAT; UKR1"
                     /inference="alignment:Splign:2.1.0"
     CDS             476..2170
                     /gene="COASY"
                     /gene_synonym="DPCK; NBIA6; NBP; PCH12; pOV-2; PPAT; UKR1"
                     /EC_number="2.7.7.3"
                     /EC_number="2.7.1.24"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; phosphopantetheine adenylyltransferase /
                     dephosphocoenzyme A kinase; bifunctional
                     phosphopantetheine adenylyl transferase/dephospho CoA
                     kinase; bifunctional coenzyme A synthase; nucleotide
                     binding protein; CoA synthase"
                     /codon_start=1
                     /product="bifunctional coenzyme A synthase isoform a
                     precursor"
                     /protein_id="NP_079509.5"
                     /db_xref="CCDS:CCDS11429.1"
                     /db_xref="GeneID:80347"
                     /db_xref="HGNC:HGNC:29932"
                     /db_xref="MIM:609855"
                     /translation="MAVFRSGLLVLTTPLASLAPRLASILTSAARLVNHTLYVHLQPG
                     MSLEGPAQPQSSPVQATFEVLDFITHLYAGADVHRHLDVRILLTNIRTKSTFLPPLPT
                     SVQNLAHPPEVVLTDFQTLDGSQYNPVKQQLVRYATSCYSCCPRLASVLLYSDYGIGE
                     VPVEPLDVPLPSTIRPASPVAGSPKQPVRGYYRGAVGGTFDRLHNAHKVLLSVACILA
                     QEQLVVGVADKDLLKSKLLPELLQPYTERVEHLSEFLVDIKPSLTFDVIPLLDPYGPA
                     GSDPSLEFLVVSEETYRGGMAINRFRLENDLEELALYQIQLLKDLRHTENEEDKVSSS
                     SFRQRMLGNLLRPPYERPELPTCLYVIGLTGISGSGKSSIAQRLKGLGAFVIDSDHLG
                     HRAYAPGGPAYQPVVEAFGTDILHKDGIINRKVLGSRVFGNKKQLKILTDIMWPIIAK
                     LAREEMDRAVAEGKRVCVIDAAVLLEAGWQNLVHEVWTAVIPETEAVRRIVERDGLSE
                     AAAQSRLQSQMSGQQLVEQSHVVLSTLWEPHITQRQVEKAWALLQKRIPKTHQALD"
     exon            1176..1390
                     /gene="COASY"
                     /gene_synonym="DPCK; NBIA6; NBP; PCH12; pOV-2; PPAT; UKR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1391..1522
                     /gene="COASY"
                     /gene_synonym="DPCK; NBIA6; NBP; PCH12; pOV-2; PPAT; UKR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1523..1712
                     /gene="COASY"
                     /gene_synonym="DPCK; NBIA6; NBP; PCH12; pOV-2; PPAT; UKR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1713..1777
                     /gene="COASY"
                     /gene_synonym="DPCK; NBIA6; NBP; PCH12; pOV-2; PPAT; UKR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1778..1862
                     /gene="COASY"
                     /gene_synonym="DPCK; NBIA6; NBP; PCH12; pOV-2; PPAT; UKR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1863..1960
                     /gene="COASY"
                     /gene_synonym="DPCK; NBIA6; NBP; PCH12; pOV-2; PPAT; UKR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1961..2107
                     /gene="COASY"
                     /gene_synonym="DPCK; NBIA6; NBP; PCH12; pOV-2; PPAT; UKR1"
                     /inference="alignment:Splign:2.1.0"
     exon            2108..2479
                     /gene="COASY"
                     /gene_synonym="DPCK; NBIA6; NBP; PCH12; pOV-2; PPAT; UKR1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2458..2463
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COASY"
                     /gene_synonym="DPCK; NBIA6; NBP; PCH12; pOV-2; PPAT; UKR1"
                     /note="hexamer: ATTAAA"
     polyA_site      2479
                     /gene="COASY"
                     /gene_synonym="DPCK; NBIA6; NBP; PCH12; pOV-2; PPAT; UKR1"
                     /note="major polyA site"
ORIGIN      
        1 gttagtgctt ccgggttgca gccagggaag cctccgcggt ggtgcaagtg gaacccaagc
       61 cttgaggttt cagtgagtag ggggccgacg tgagctttag cgtccccctt tagcctccct
      121 cttcgattcc ttgaagaccc tggtgcagct tagcaagagg gcccaggatt tttggatccc
      181 cagccctgtg acaagggttc ctgtccagtt tccccctccc aggatttcga ctcagttcag
      241 cgaagtcacc gccccgtctg agaaatgagg acaccaaggc ttagagcaca gccccgaggc
      301 gccgtctacc aggccccgtc ccctcccccg gctcctgtcg gtcagcactg aaaccccgtc
      361 cctgctccag gcctccttct ctggggtcca aggtcccata caggcctctg cctcggccgc
      421 aggcccttca gtcaccgtcg cctcgtctcc ctgactgtcc gcaggcctgg gcagcatggc
      481 cgtattccgg tcgggtctcc tggtgctgac gacgccgctg gcctccctag cccctcgcct
      541 ggcctccatc ctgacctcgg cggcccggct ggtgaatcac acactctatg ttcacctgca
      601 gccgggcatg agcctggagg gcccggctca gccccagtcc agccccgtgc aggccacgtt
      661 tgaggttctt gatttcatca cgcacctcta tgctggcgcc gacgtccaca ggcacttgga
      721 cgtcagaatc ctactgacca atatccgaac caagagcacc tttctccctc ccctgcccac
      781 ctcagtccag aatctcgccc acccgccaga agtcgtgttg acagatttcc agaccctgga
      841 tggaagccag tacaacccgg tcaaacagca gctagtgcgt tacgccacca gctgttacag
      901 ctgttgtccg cgactggcct cggtgctgct atactccgat tatgggatag gagaagtgcc
      961 cgtggagccc ctggatgtcc ccttaccctc cacgatcagg ccagcttccc ccgtggccgg
     1021 gtctccaaag cagccggtgc gtggctacta ccgtggcgct gtcggtggca cgtttgaccg
     1081 cctgcacaac gcccacaagg tgttgctcag tgtcgcgtgc atcctggccc aggagcagct
     1141 tgtggtggga gtagcagaca aagatctgtt gaagagcaag ttgctccctg agctgctcca
     1201 accttataca gaacgtgtgg aacatctgag tgaattcctg gtggacatca agccctcctt
     1261 gacttttgat gtcatccccc tgctggaccc ctatgggccc gctggctctg acccctccct
     1321 ggagttcctg gtggtcagcg aggagaccta tcgtgggggg atggccatca accgcttccg
     1381 ccttgagaat gacctggagg aacttgcttt gtaccagatc cagctgctga aggacctcag
     1441 acatacagag aatgaagagg acaaagtcag ctcctccagc ttccgccagc gaatgttggg
     1501 gaacctgctt cggcctccat atgaaaggcc agagctcccc acatgtctct atgtaattgg
     1561 gctgactggc atcagtggct ctgggaagag ctcaatagct cagcgactga agggcctggg
     1621 ggcgtttgtc attgacagtg accacctggg tcatcgggcc tatgccccag gtggccctgc
     1681 ctaccagcct gtggtggagg cctttggaac agatattctc cataaagatg gcatcatcaa
     1741 caggaaggtc ctaggcagcc gggtgtttgg gaataagaag cagctgaaga tactcacgga
     1801 cattatgtgg ccaattatcg caaagctggc ccgagaggag atggatcggg ctgtggctga
     1861 gggaaagcgt gtgtgtgtga ttgatgccgc tgtgttgctt gaagccggct ggcagaacct
     1921 ggtccatgag gtgtggactg ctgtcatccc agagactgag gctgtaagac gcattgtgga
     1981 gagggatggc ctcagtgaag ccgcggctca aagccggctg cagagccaga tgagcgggca
     2041 gcagcttgtg gaacagagcc acgtggtgct cagcaccttg tgggagccgc atatcaccca
     2101 acgccaggtg gagaaagcct gggccctctt gcagaagcgc attcccaaga ctcatcaggc
     2161 cctcgactga aaagttctca gtggggccag actggctcct ggagctgaca agcgaccccg
     2221 tggtgaggag aaatgggggc cttgatgctc accctggttc aggcccagag gtccaagcta
     2281 tactgtgcag gacatggcca ggcctggtgg acacaggaag cctacccaac acgctggtat
     2341 ttggccaaca ctgaggatgt ggttcatggg ggagcagtcc cctccccact cttgcccatg
     2401 ggtgactctt acccacagct gactagggcc agcgcaaata ctggaacctg taacagaatt
     2461 aaaggtgaat gttctgaga
//
