LOCUS       NM_025207               2189 bp    mRNA    linear   PRI 18-NOV-2024
DEFINITION  Homo sapiens flavin adenine dinucleotide synthetase 1 (FLAD1),
            transcript variant 1, mRNA.
ACCESSION   NM_025207
VERSION     NM_025207.5
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 2189)
  AUTHORS   Leo,G., Leone,P., Ataie Kachoie,E., Tolomeo,M., Galluccio,M.,
            Indiveri,C., Barile,M. and Capaldi,S.
  TITLE     Structural insights into the bifunctional enzyme human FAD synthase
  JOURNAL   Structure 32 (7), 953-965 (2024)
   PUBMED   38688286
  REMARK    GeneRIF: Structural insights into the bifunctional enzyme human FAD
            synthase.
REFERENCE   2  (bases 1 to 2189)
  AUTHORS   Tolomeo,M., Chimienti,G., Lanza,M., Barbaro,R., Nisco,A.,
            Latronico,T., Leone,P., Petrosillo,G., Liuzzi,G.M., Ryder,B.,
            Inbar-Feigenberg,M., Colella,M., Lezza,A.M.S., Olsen,R.K.J. and
            Barile,M.
  TITLE     Retrograde response to mitochondrial dysfunctions associated to LOF
            variations in FLAD1 exon 2: unraveling the importance of RFVT2
  JOURNAL   Free Radic Res 56 (7-8), 511-525 (2022)
   PUBMED   36480241
  REMARK    GeneRIF: Retrograde response to mitochondrial dysfunctions
            associated to LOF variations in FLAD1 exon 2: unraveling the
            importance of RFVT2.
REFERENCE   3  (bases 1 to 2189)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   4  (bases 1 to 2189)
  AUTHORS   Hu,P., Pan,Y., Wang,C., Zhang,W., Huang,H., Wang,J. and Zhang,N.
  TITLE     FLAD1 is up-regulated in Gastric Cancer and is a potential
            prediction of prognosis
  JOURNAL   Int J Med Sci 17 (12), 1763-1772 (2020)
   PUBMED   32714079
  REMARK    GeneRIF: FLAD1 is up-regulated in Gastric Cancer and is a potential
            prediction of prognosis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2189)
  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   6  (bases 1 to 2189)
  AUTHORS   Olsen,R.K.J., Konarikova,E., Giancaspero,T.A., Mosegaard,S.,
            Boczonadi,V., Matakovic,L., Veauville-Merllie,A., Terrile,C.,
            Schwarzmayr,T., Haack,T.B., Auranen,M., Leone,P., Galluccio,M.,
            Imbard,A., Gutierrez-Rios,P., Palmfeldt,J., Graf,E.,
            Vianey-Saban,C., Oppenheim,M., Schiff,M., Pichard,S., Rigal,O.,
            Pyle,A., Chinnery,P.F., Konstantopoulou,V., Moslinger,D.,
            Feichtinger,R.G., Talim,B., Topaloglu,H., Coskun,T., Gucer,S.,
            Botta,A., Pegoraro,E., Malena,A., Vergani,L., Mazza,D., Zollino,M.,
            Ghezzi,D., Acquaviva,C., Tyni,T., Boneh,A., Meitinger,T.,
            Strom,T.M., Gregersen,N., Mayr,J.A., Horvath,R., Barile,M. and
            Prokisch,H.
  TITLE     Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase
            Cause Multiple Acyl-CoA Dehydrogenase and Combined
            Respiratory-Chain Deficiency
  JOURNAL   Am J Hum Genet 98 (6), 1130-1145 (2016)
   PUBMED   27259049
  REMARK    GeneRIF: Frameshift mutation in the FADS gene is Associated with
            Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain
            Deficiency.
REFERENCE   7  (bases 1 to 2189)
  AUTHORS   Eeles,R.A., Olama,A.A., Benlloch,S., Saunders,E.J.,
            Leongamornlert,D.A., Tymrakiewicz,M., Ghoussaini,M., Luccarini,C.,
            Dennis,J., Jugurnauth-Little,S., Dadaev,T., Neal,D.E., Hamdy,F.C.,
            Donovan,J.L., Muir,K., Giles,G.G., Severi,G., Wiklund,F.,
            Gronberg,H., Haiman,C.A., Schumacher,F., Henderson,B.E., Le
            Marchand,L., Lindstrom,S., Kraft,P., Hunter,D.J., Gapstur,S.,
            Chanock,S.J., Berndt,S.I., Albanes,D., Andriole,G., Schleutker,J.,
            Weischer,M., Canzian,F., Riboli,E., Key,T.J., Travis,R.C.,
            Campa,D., Ingles,S.A., John,E.M., Hayes,R.B., Pharoah,P.D.,
            Pashayan,N., Khaw,K.T., Stanford,J.L., Ostrander,E.A.,
            Signorello,L.B., Thibodeau,S.N., Schaid,D., Maier,C., Vogel,W.,
            Kibel,A.S., Cybulski,C., Lubinski,J., Cannon-Albright,L.,
            Brenner,H., Park,J.Y., Kaneva,R., Batra,J., Spurdle,A.B.,
            Clements,J.A., Teixeira,M.R., Dicks,E., Lee,A., Dunning,A.M.,
            Baynes,C., Conroy,D., Maranian,M.J., Ahmed,S., Govindasami,K.,
            Guy,M., Wilkinson,R.A., Sawyer,E.J., Morgan,A., Dearnaley,D.P.,
            Horwich,A., Huddart,R.A., Khoo,V.S., Parker,C.C., Van As,N.J.,
            Woodhouse,C.J., Thompson,A., Dudderidge,T., Ogden,C., Cooper,C.S.,
            Lophatananon,A., Cox,A., Southey,M.C., Hopper,J.L., English,D.R.,
            Aly,M., Adolfsson,J., Xu,J., Zheng,S.L., Yeager,M., Kaaks,R.,
            Diver,W.R., Gaudet,M.M., Stern,M.C., Corral,R., Joshi,A.D.,
            Shahabi,A., Wahlfors,T., Tammela,T.L., Auvinen,A., Virtamo,J.,
            Klarskov,P., Nordestgaard,B.G., Roder,M.A., Nielsen,S.F.,
            Bojesen,S.E., Siddiq,A., Fitzgerald,L.M., Kolb,S., Kwon,E.M.,
            Karyadi,D.M., Blot,W.J., Zheng,W., Cai,Q., McDonnell,S.K.,
            Rinckleb,A.E., Drake,B., Colditz,G., Wokolorczyk,D.,
            Stephenson,R.A., Teerlink,C., Muller,H., Rothenbacher,D.,
            Sellers,T.A., Lin,H.Y., Slavov,C., Mitev,V., Lose,F.,
            Srinivasan,S., Maia,S., Paulo,P., Lange,E., Cooney,K.A.,
            Antoniou,A.C., Vincent,D., Bacot,F., Tessier,D.C., Kote-Jarai,Z.
            and Easton,D.F.
  CONSRTM   COGS-Cancer Research UK GWAS-ELLIPSE (part of GAME-ON) Initiative;
            Australian Prostate Cancer Bioresource; UK Genetic Prostate Cancer
            Study Collaborators/British Association of Urological Surgeons'
            Section of Oncology; UK ProtecT (Prostate testing for cancer and
            Treatment) Study Collaborators; PRACTICAL (Prostate Cancer
            Association Group to Investigate Cancer-Associated Alterations in
            the Genome) Consortium
  TITLE     Identification of 23 new prostate cancer susceptibility loci using
            the iCOGS custom genotyping array
  JOURNAL   Nat Genet 45 (4), 385-391 (2013)
   PUBMED   23535732
REFERENCE   8  (bases 1 to 2189)
  AUTHORS   Torchetti,E.M., Brizio,C., Colella,M., Galluccio,M.,
            Giancaspero,T.A., Indiveri,C., Roberti,M. and Barile,M.
  TITLE     Mitochondrial localization of human FAD synthetase isoform 1
  JOURNAL   Mitochondrion 10 (3), 263-273 (2010)
   PUBMED   20060505
REFERENCE   9  (bases 1 to 2189)
  AUTHORS   Lin,J., Diamanduros,A., Chowdhury,S.A., Scelsa,S., Latov,N. and
            Sadiq,S.A.
  TITLE     Specific electron transport chain abnormalities in amyotrophic
            lateral sclerosis
  JOURNAL   J Neurol 256 (5), 774-782 (2009)
   PUBMED   19240958
  REMARK    GeneRIF: Our data show that a reduction in electron transport
            proteins, namely FAD synthetase, RFK, CYC1, and SDHB, is seen in
            patients with ALS.
REFERENCE   10 (bases 1 to 2189)
  AUTHORS   Brizio,C., Galluccio,M., Wait,R., Torchetti,E.M., Bafunno,V.,
            Accardi,R., Gianazza,E., Indiveri,C. and Barile,M.
  TITLE     Over-expression in Escherichia coli and characterization of two
            recombinant isoforms of human FAD synthetase
  JOURNAL   Biochem Biophys Res Commun 344 (3), 1008-1016 (2006)
   PUBMED   16643857
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC371856.1 and AF520568.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_025207.4.
            
            Summary: This gene encodes the enzyme that catalyzes adenylation of
            flavin mononucleotide (FMN) to form flavin adenine dinucleotide
            (FAD) coenzyme. Alternatively spliced transcript variants encoding
            distinct isoforms have been observed. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) encodes the longest protein
            (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 :: AF520568.1, SRR1803613.157146.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000292180.8/ ENSP00000292180.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-29                DC371856.1         52-80
            30-2189             AF520568.1         1-2160
FEATURES             Location/Qualifiers
     source          1..2189
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..2189
                     /gene="FLAD1"
                     /gene_synonym="FAD1; FADS; LSMFLAD; PP591"
                     /note="flavin adenine dinucleotide synthetase 1"
                     /db_xref="GeneID:80308"
                     /db_xref="HGNC:HGNC:24671"
                     /db_xref="MIM:610595"
     exon            1..723
                     /gene="FLAD1"
                     /gene_synonym="FAD1; FADS; LSMFLAD; PP591"
                     /inference="alignment:Splign:2.1.0"
     CDS             352..2115
                     /gene="FLAD1"
                     /gene_synonym="FAD1; FADS; LSMFLAD; PP591"
                     /EC_number="2.7.7.2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     FAD-synthetase; FAD synthase; FAD-adenylyl transferase;
                     FAD pyrophosphorylase; FMN adenylyltransferase; Fad1,
                     flavin adenine dinucleotide synthetase, homolog"
                     /codon_start=1
                     /product="FAD synthase isoform 1"
                     /protein_id="NP_079483.3"
                     /db_xref="CCDS:CCDS1078.1"
                     /db_xref="GeneID:80308"
                     /db_xref="HGNC:HGNC:24671"
                     /db_xref="MIM:610595"
                     /translation="MGWDLGTRLFQRQEQRSRLSRIWLEKTRVFLEGSTRTPALPHCL
                     FWLLQVPSTQDPLFPGYGPQCPVDLAGPPCLRPLFGGLGGYWRALQRGREGRTMTSRA
                     SELSPGRSVTAGIIIVGDEILKGHTQDTNTFFLCRTLRSLGVQVCRVSVVPDEVATIA
                     AEVTSFSNRFTHVLTAGGIGPTHDDVTFEAVAQAFGDELKPHPKLEAATKALGGEGWE
                     KLSLVPSSARLHYGTDPCTGQPFRFPLVSVRNVYLFPGIPELLRRVLEGMKGLFQNPA
                     VQFHSKELYVAADEASIAPILAEAQAHFGRRLGLGSYPDWGSNYYQVKLTLDSEEEGP
                     LEECLAYLTARLPQGSLVPYMPNAVEQASEAVYKLAESGSSLGKKVAGALQTIETSLA
                     QYSLTQLCVGFNGGKDCTALLHLFHAAVQRKLPDVPNPLQILYIRSISPFPELEQFLQ
                     DTIKRYNLQMLEAEGSMKQALGELQARHPQLEAVLMGTRRTDPYSCSLCPFSPTDPGW
                     PAFMRINPLLDWTYRDIWDFLRQLFVPYCILYDRGYTSLGSRENTVRNPALKCLSPGG
                     HPTYRPAYLLENEEEERNSRT"
     exon            724..1468
                     /gene="FLAD1"
                     /gene_synonym="FAD1; FADS; LSMFLAD; PP591"
                     /inference="alignment:Splign:2.1.0"
     exon            1469..1616
                     /gene="FLAD1"
                     /gene_synonym="FAD1; FADS; LSMFLAD; PP591"
                     /inference="alignment:Splign:2.1.0"
     exon            1617..1715
                     /gene="FLAD1"
                     /gene_synonym="FAD1; FADS; LSMFLAD; PP591"
                     /inference="alignment:Splign:2.1.0"
     exon            1716..1905
                     /gene="FLAD1"
                     /gene_synonym="FAD1; FADS; LSMFLAD; PP591"
                     /inference="alignment:Splign:2.1.0"
     exon            1906..1979
                     /gene="FLAD1"
                     /gene_synonym="FAD1; FADS; LSMFLAD; PP591"
                     /inference="alignment:Splign:2.1.0"
     exon            1980..2189
                     /gene="FLAD1"
                     /gene_synonym="FAD1; FADS; LSMFLAD; PP591"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2167..2172
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FLAD1"
                     /gene_synonym="FAD1; FADS; LSMFLAD; PP591"
                     /note="hexamer: AATAAA"
     polyA_site      2189
                     /gene="FLAD1"
                     /gene_synonym="FAD1; FADS; LSMFLAD; PP591"
                     /note="major polyA site"
ORIGIN      
        1 gggacatgag gaaaggaaca agggaaagag ccggtgaagg ggcagaacag gcaggtgaga
       61 gtctaagagg gctcagtaat ctgaagcttg gtgggaagaa gggattctgg gctagaaagg
      121 gtgcagaagc ctgaagtaga aagagacggg attttggtcc ggggtggaga gcgaatgcat
      181 tgaaaagggc caaggcccag gataaggtag acatttaaag gggtacggat gcccaaggta
      241 gagcagacac ttgaggagac cagctcagca aacggaagac acttaaagtg gtaggttctc
      301 aagagagaag aagtttttaa gactagagct aagcaagaca tttaaaagga catgggttgg
      361 gatttgggaa cacgtttatt ccagaggcag gaacaaagga gtcgcttgtc aaggatctgg
      421 ttagagaaga ctagggtctt cctcgaagga agcacgcgca cgcctgctct cccccattgt
      481 cttttctggc ttctccaggt tccctcgacc caggaccccc tgttcccagg ctatggcccc
      541 cagtgccctg tagacctggc aggccccccg tgcttgcgac ccctatttgg gggtctgggt
      601 ggctactgga gggccttgca gaggggcaga gaaggcagga ccatgacatc tagggcctct
      661 gaactttctc cggggcgcag cgtgacggct ggcatcatca ttgttggaga tgagatcctt
      721 aagggacaca ctcaggacac caacaccttc tttctgtgcc ggacactgcg ctccctaggg
      781 gtccaggttt gccgagtctc agttgtacct gatgaggtag ccaccattgc agctgaggtc
      841 acttctttct ccaaccgctt cacccatgtc ctcacagcag ggggcatcgg ccccactcat
      901 gatgatgtga cctttgaggc agtggcacag gcctttggag atgagctgaa gccacacccc
      961 aagttggaag cagccaccaa agccctagga ggggaaggct gggagaagct atcattggtg
     1021 ccctcctctg cccgcctgca ttatggcaca gatccttgca ctggtcaacc tttcagattc
     1081 cctctggtct ccgtccgaaa cgtctacctc ttcccaggca ttccagagct gctgcggcgg
     1141 gtgctggagg ggatgaaggg actattccaa aacccagctg ttcagttcca ctcaaaggag
     1201 ctatatgtgg ctgctgatga agcctccatc gcccccattc tggctgaggc ccaggcccac
     1261 tttggacgta ggcttggcct gggttcctac cctgactggg gcagcaacta ctatcaggtg
     1321 aagctgactc tagactcaga ggaagaagga cccctggagg aatgcttggc ctacctgact
     1381 gcccgtttgc cccagggatc gctggtcccc tacatgccca acgctgtgga gcaggccagt
     1441 gaggctgtat acaaactcgc tgaatcaggg tcttctttgg ggaaaaaggt ggcaggtgcc
     1501 ctacagacca ttgagacctc cctggctcag tacagcctca cccagctctg tgtgggcttc
     1561 aacgggggca aagactgcac tgccctcctg cacctcttcc atgcagctgt gcagaggaaa
     1621 ttacctgatg ttccaaaccc cctccagatc ctgtatatcc gcagcatctc ccctttccct
     1681 gagctggaac agtttctaca ggacactatc aagaggtata atctgcagat gttggaagct
     1741 gagggcagca tgaagcaggc cctgggtgaa ctgcaggcac ggcaccccca gctggaggct
     1801 gtccttatgg gcacccgccg gactgacccc tactcctgta gcctctgccc tttcagcccc
     1861 actgacccag gctggcccgc attcatgcgc atcaacccac tgctggactg gacctacaga
     1921 gacatctggg attttctgcg tcagctgttt gtcccatact gtatcctgta tgaccgagga
     1981 tacacatcac tggggagtcg ggagaatacc gtgcggaacc cggccctgaa gtgcctgagc
     2041 ccaggaggac accccacata ccgtccagcc tatctactgg agaacgaaga agaggagcgg
     2101 aactcccgca catgacctcc caccctagga gggagggaag gacaccgtcc tagggtataa
     2161 cctggcaata aaccgtgcct ctcactgtg
//
