LOCUS       NM_018339               2596 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens riboflavin kinase (RFK), mRNA.
ACCESSION   NM_018339
VERSION     NM_018339.6
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 2596)
  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   2  (bases 1 to 2596)
  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 2596)
  AUTHORS   Hasegawa,Y., Taylor,D., Ovchinnikov,D.A., Wolvetang,E.J., de
            Torrente,L. and Mar,J.C.
  TITLE     Variability of Gene Expression Identifies Transcriptional
            Regulators of Early Human Embryonic Development
  JOURNAL   PLoS Genet 11 (8), e1005428 (2015)
   PUBMED   26288249
  REMARK    GeneRIF: Results from a study on gene expression variability
            markers in early-stage human embryos shows that RFK is a putative
            expression variability marker for the 3-day, 8-cell embryo stage.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2596)
  AUTHORS   Park,K.J., Lee,C.H., Kim,A., Jeong,K.J., Kim,C.H. and Kim,Y.S.
  TITLE     Death receptors 4 and 5 activate Nox1 NADPH oxidase through
            riboflavin kinase to induce reactive oxygen species-mediated
            apoptotic cell death
  JOURNAL   J Biol Chem 287 (5), 3313-3325 (2012)
   PUBMED   22158615
  REMARK    GeneRIF: DR4 and DR5 have a capability to activate Nox1 by
            recruiting RFK, resulting in ROS-mediated apoptotic cell death in
            tumor cells.
REFERENCE   5  (bases 1 to 2596)
  AUTHORS   Hirano,G., Izumi,H., Yasuniwa,Y., Shimajiri,S., Ke-Yong,W.,
            Sasagiri,Y., Kusaba,H., Matsumoto,K., Hasegawa,T., Akimoto,M.,
            Akashi,K. and Kohno,K.
  TITLE     Involvement of riboflavin kinase expression in cellular sensitivity
            against cisplatin
  JOURNAL   Int J Oncol 38 (4), 893-902 (2011)
   PUBMED   21308351
  REMARK    GeneRIF: levels of riboflavin kinase expression correlate well with
            Gleason score, known as a good indicator of patient prognosis
REFERENCE   6  (bases 1 to 2596)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2596)
  AUTHORS   Yazdanpanah,B., Wiegmann,K., Tchikov,V., Krut,O., Pongratz,C.,
            Schramm,M., Kleinridders,A., Wunderlich,T., Kashkar,H.,
            Utermohlen,O., Bruning,J.C., Schutze,S. and Kronke,M.
  TITLE     Riboflavin kinase couples TNF receptor 1 to NADPH oxidase
  JOURNAL   Nature 460 (7259), 1159-1163 (2009)
   PUBMED   19641494
  REMARK    GeneRIF: results suggest that TNF, through the activation of RFK,
            enhances the incorporation of FAD in NADPH oxidase enzymes, a
            critical step for the assembly and activation of NADPH oxidase
REFERENCE   8  (bases 1 to 2596)
  AUTHORS   Baranzini,S.E., Wang,J., Gibson,R.A., Galwey,N., Naegelin,Y.,
            Barkhof,F., Radue,E.W., Lindberg,R.L., Uitdehaag,B.M.,
            Johnson,M.R., Angelakopoulou,A., Hall,L., Richardson,J.C.,
            Prinjha,R.K., Gass,A., Geurts,J.J., Kragt,J., Sombekke,M.,
            Vrenken,H., Qualley,P., Lincoln,R.R., Gomez,R., Caillier,S.J.,
            George,M.F., Mousavi,H., Guerrero,R., Okuda,D.T., Cree,B.A.,
            Green,A.J., Waubant,E., Goodin,D.S., Pelletier,D., Matthews,P.M.,
            Hauser,S.L., Kappos,L., Polman,C.H. and Oksenberg,J.R.
  TITLE     Genome-wide association analysis of susceptibility and clinical
            phenotype in multiple sclerosis
  JOURNAL   Hum Mol Genet 18 (4), 767-778 (2009)
   PUBMED   19010793
REFERENCE   9  (bases 1 to 2596)
  AUTHORS   Karthikeyan,S., Zhou,Q., Osterman,A.L. and Zhang,H.
  TITLE     Ligand binding-induced conformational changes in riboflavin kinase:
            structural basis for the ordered mechanism
  JOURNAL   Biochemistry 42 (43), 12532-12538 (2003)
   PUBMED   14580199
  REMARK    GeneRIF: the structure of riboflavin kinase cocrystallized with
            both MgADP and FMN is reported; drastic conformational changes
            associated with flavin binding are observed primarily at the
            so-called Flap I and Flap II loop regions
REFERENCE   10 (bases 1 to 2596)
  AUTHORS   Karthikeyan,S., Zhou,Q., Mseeh,F., Grishin,N.V., Osterman,A.L. and
            Zhang,H.
  TITLE     Crystal structure of human riboflavin kinase reveals a beta barrel
            fold and a novel active site arch
  JOURNAL   Structure 11 (3), 265-273 (2003)
   PUBMED   12623014
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB499473.1, DA154523.1, AL391868.16, AK315734.1 and DB531307.1.
            
            On Nov 23, 2018 this sequence version replaced NM_018339.5.
            
            Summary: Riboflavin kinase (RFK; EC 2.7.1.26) is an essential
            enzyme that catalyzes the phosphorylation of riboflavin (vitamin
            B2) to form flavin mononucleotide (FMN), an obligatory step in
            vitamin B2 utilization and flavin cofactor synthesis (Karthikeyan
            et al., 2003 [PubMed 12623014]).[supplied by OMIM, Nov 2009].
            
            Sequence Note: This RefSeq uses a downstream start codon compared
            to that used by the vast majority of human transcript data, and as
            indicated in the literature. The reference genome sequence contains
            a polymorphism that changes the upstream ATG found in most
            transcripts to ATT; hence the next downstream AUG is annotated.
            This polymorphism is represented in the Reference SNP, rs2490582.
            The reference genome polymorphism results in a protein that is 7 aa
            shorter at the N-terminus, and is supported by homologous proteins.
            It is also possible that leaky scanning by ribosomes would permit
            translation initiation from the downstream AUG in alleles
            containing the upstream AUG.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.240136.1,
                                           SRR1660809.160763.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376736.6/ ENSP00000365926.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-120               DB499473.1         105-224
            121-236             DA154523.1         213-328
            237-237             AL391868.16        87266-87266         c
            238-681             AK315734.1         329-772
            682-2560            AL391868.16        78638-80516         c
            2561-2596           DB531307.1         359-394
FEATURES             Location/Qualifiers
     source          1..2596
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.13"
     gene            1..2596
                     /gene="RFK"
                     /gene_synonym="RIFK"
                     /note="riboflavin kinase"
                     /db_xref="GeneID:55312"
                     /db_xref="HGNC:HGNC:30324"
                     /db_xref="MIM:613010"
     exon            1..337
                     /gene="RFK"
                     /gene_synonym="RIFK"
                     /inference="alignment:Splign:2.1.0"
     CDS             256..723
                     /gene="RFK"
                     /gene_synonym="RIFK"
                     /EC_number="2.7.1.26"
                     /note="0610038L10Rik; ATP:riboflavin
                     5'-phosphotransferase; flavokinase"
                     /codon_start=1
                     /product="riboflavin kinase"
                     /protein_id="NP_060809.3"
                     /db_xref="CCDS:CCDS35044.2"
                     /db_xref="GeneID:55312"
                     /db_xref="HGNC:HGNC:30324"
                     /db_xref="MIM:613010"
                     /translation="MRHLPYFCRGQVVRGFGRGSKQLGIPTANFPEQVVDNLPADIST
                     GIYYGWASVGSGDVHKMVVSIGWNPYYKNTKKSMETHIMHTFKEDFYGEILNVAIVGY
                     LRPEKNFDSLESLISAIQGDIEEAKKRLELPEHLKIKEDNFFQVSKSKIMNGH"
     exon            338..489
                     /gene="RFK"
                     /gene_synonym="RIFK"
                     /inference="alignment:Splign:2.1.0"
     exon            490..592
                     /gene="RFK"
                     /gene_synonym="RIFK"
                     /inference="alignment:Splign:2.1.0"
     exon            593..2596
                     /gene="RFK"
                     /gene_synonym="RIFK"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1496..1501
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFK"
                     /gene_synonym="RIFK"
                     /note="hexamer: AGTAAA"
     polyA_site      1520
                     /gene="RFK"
                     /gene_synonym="RIFK"
                     /note="major polyA site"
     regulatory      2575..2580
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFK"
                     /gene_synonym="RIFK"
                     /note="hexamer: AATAAA"
     polyA_site      2596
                     /gene="RFK"
                     /gene_synonym="RIFK"
                     /note="major polyA site"
ORIGIN      
        1 acttacttcg gctgtctccg ctgccctcca gcggagacgc agctcctcag gcgcccggcg
       61 gtatttgttg ggtcggcggc gtcagggatt cgcagtggcc tgtggtcggc gtcgtccggc
      121 cactggtgcg cccccgcggc aggcagagct cacgctcctg tcccccggct ggtccggggt
      181 ctgggcgccg cgtcgacggc ggctccgcag gacgcgcaga ccgggccgca gcccattccc
      241 cgagcggact gcattatgag gcacctgcct tacttctgcc ggggtcaagt ggtgcggggc
      301 ttcggccgcg gctccaagca gctgggcatc cccacagcta attttcctga gcaagtggta
      361 gataatcttc cagctgatat atccactggt atttactatg gttgggccag tgttggaagt
      421 ggagatgtcc ataagatggt ggtgagcata ggatggaacc catattacaa gaatacgaag
      481 aagtctatgg aaacacatat catgcatacc ttcaaagagg acttctatgg ggaaatcctc
      541 aatgtggcca ttgttggcta cctgagacca gaaaagaact ttgattcttt agagtcactt
      601 atttcagcaa ttcaaggtga tattgaagaa gctaagaaac gactagagtt accagaacat
      661 ttgaaaatca aagaagacaa tttcttccag gtttctaaaa gcaaaataat gaatggccac
      721 tgatgaaaaa ttgtattatt tattcattca ctgttttcta gtgtttctgt gtttattact
      781 gttcagcatc atcttggtta tatactgaaa atcaaacact ttactacagt tgtgaattag
      841 tttaaaccgt acaatgttgt tatcatatca tgcttcaact attaaattaa gcccatcata
      901 tcatagcact aaaaagattg agttaaaaat aagatttaaa aaatatatat tgattaaaat
      961 gtaccactag aaaggtatta catgtgtata agtatgggta aaaaggcaag tcactagttt
     1021 gagatgaaaa ctaaaatttt catggtaaaa tgccagcatg tatgtacttg tgtagtgtgt
     1081 acttctaaac agagaaggct tataaaagta aatgcattaa ggccaagtgc agtggctcac
     1141 accggtaatc ccagcacttt gggaggccga ggtgggagga ttgcttgagc tcatgagttc
     1201 aagaccagcc tgggcaacat agcgagactc catctctata aataaaaaaa aaggaaatgc
     1261 attaaataga aggttgatag tttatcataa acctgcgggg aagaaactca gactttctat
     1321 ttttgatatt ttgtgcatta atacattaca aacatgaaga tgtttgtaaa gttttgtttt
     1381 agtcattttc tttgcagtca catcattgta ccaccttcat tattgtatag agctgcttca
     1441 attctgagtc ctctggactt cccctgccta tctgtttgtt gttgttgttg aagacagtaa
     1501 aataagtgtt ttcaaatcta tatgtctcct ttttgttgga taatgtttct tctttttaat
     1561 ggtaaatatt cttgttcttc aacatttttc tttggttctt ttttcctttt ttaggaaaaa
     1621 caaaacaaca gacttcatcc ttaggttttc tcaagattta agtgaacaca tttacacata
     1681 tcaatttctt aaagaacaca aaatgtttcc tccctagcaa aactatttaa gagccaatta
     1741 aactatgaaa tagttataaa attattttta atatttaagg ccttgaaatt atattccaag
     1801 gcaaatctaa atgggtgtag ttgtatatgc acgatgtaat ttaatgctaa agagtactta
     1861 cagcttgagg gaaaagcata aagttttagt taaatagcct tcatactgtg gatttttcct
     1921 cctactaact aatatgtggg aaattaagat tacagatgct ttgggccccc tcaaacagta
     1981 cattgctaca gttcactgta gcaacagatt tggtggtgat ggggggatag aggtagaagc
     2041 agatagaagg taattttaaa gttaatttat tatgaatcat tttcccctaa tctgcataaa
     2101 tgaattagaa ctgattttaa taaaaatatt ctgtgtaaaa agtactcaga aaaacatcta
     2161 aagctgttgg agaagaggga ctcatataaa tagttggatt gcgttttgct ttttatttct
     2221 ttataaaaat atgtcaaaaa cagtttttaa ttttagaaat cttatacttg aaagaaacct
     2281 caattatcag tggctttatg aagtaaagtt aaaaacaaac ataggaaatg tgaaaatatt
     2341 tgtgtttgtt ttgtctgact aacttgctgc taaatgctat ctttaggtgt gtgaaagttc
     2401 tttgatatgt tattgtcctt ttacatcttg ttaaatagcc attgcttttg agaatcagat
     2461 agtgtgttgt ttaggggtta attgtgtcta tatctttcaa aaacttttat attatgtatt
     2521 ataagaagtt acagtagtac cattttgatt agtctgaatg ttttcaggcc ttgaaataaa
     2581 ttttgactaa gtgata
//
