LOCUS       NM_001350893            2369 bp    mRNA    linear   PRI 06-OCT-2024
DEFINITION  Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant
            13, mRNA.
ACCESSION   NM_001350893 XM_017011983
VERSION     NM_001350893.1
KEYWORDS    RefSeq.
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 2369)
  AUTHORS   Sahu,U., Villa,E., Reczek,C.R., Zhao,Z., O'Hara,B.P., Torno,M.D.,
            Mishra,R., Shannon,W.D., Asara,J.M., Gao,P., Shilatifard,A.,
            Chandel,N.S. and Ben-Sahra,I.
  TITLE     Pyrimidines maintain mitochondrial pyruvate oxidation to support de
            novo lipogenesis
  JOURNAL   Science 383 (6690), 1484-1492 (2024)
   PUBMED   38547260
REFERENCE   2  (bases 1 to 2369)
  AUTHORS   Jessulat,M., Amin,S., Hooshyar,M., Malty,R., Moutaoufik,M.T.,
            Zilocchi,M., Istace,Z., Phanse,S., Aoki,H., Omidi,K., Burnside,D.,
            Samanfar,B., Aly,K.A., Golshani,A. and Babu,M.
  TITLE     The conserved Tpk1 regulates non-homologous end joining
            double-strand break repair by phosphorylation of Nej1, a homolog of
            the human XLF
  JOURNAL   Nucleic Acids Res 49 (14), 8145-8160 (2021)
   PUBMED   34244791
  REMARK    GeneRIF: The conserved Tpk1 regulates non-homologous end joining
            double-strand break repair by phosphorylation of Nej1, a homolog of
            the human XLF.
REFERENCE   3  (bases 1 to 2369)
  AUTHORS   Au,L.W.C., Lee,H.H.C., Sheng,B., Chan,K.Y., Yau,E.K.C., Mak,C.M.,
            Chan,A.Y.W., Chan,A.Y.Y., Lau,C.K.Y., Mok,V.C.T. and Lam,C.W.
  TITLE     Movement disorders associated with thiamine pyrophosphokinase
            deficiency: Intrafamilial variability in the phenotype
  JOURNAL   Clin Neurol Neurosurg 199, 106258 (2020)
   PUBMED   33031988
  REMARK    GeneRIF: Movement disorders associated with thiamine
            pyrophosphokinase deficiency: Intrafamilial variability in the
            phenotype.
REFERENCE   4  (bases 1 to 2369)
  AUTHORS   Zhu,B., Wu,J., Chen,G., Chen,L. and Yao,Y.
  TITLE     Whole Exome Sequencing Identifies a Novel Mutation of TPK1 in a
            Chinese Family with Recurrent Ataxia
  JOURNAL   J Mol Neurosci 70 (8), 1237-1243 (2020)
   PUBMED   32361878
  REMARK    GeneRIF: Whole Exome Sequencing Identifies a Novel Mutation of TPK1
            in a Chinese Family with Recurrent Ataxia.
REFERENCE   5  (bases 1 to 2369)
  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 2369)
  AUTHORS   Nosaka,K., Onozuka,M., Nishino,H., Nishimura,H., Kawasaki,Y. and
            Ueyama,H.
  TITLE     Molecular cloning and expression of a mouse thiamin
            pyrophosphokinase cDNA
  JOURNAL   J Biol Chem 274 (48), 34129-34133 (1999)
   PUBMED   10567383
  REMARK    GeneRIF: This is the first report on the primary sequence for
            mammalian thiamin pyrophosphokinase, a protein that catalyzes the
            pyrophosphorylation of thiamin with adenosine 5'-triphosphate to
            form thiamin pyrophosphate.
REFERENCE   7  (bases 1 to 2369)
  AUTHORS   Egi,Y., Koyama,S., Shioda,T., Yamada,K. and Kawasaki,T.
  TITLE     Identification, purification and reconstitution of thiamin
            metabolizing enzymes in human red blood cells
  JOURNAL   Biochim Biophys Acta 1160 (2), 171-178 (1992)
   PUBMED   1332781
REFERENCE   8  (bases 1 to 2369)
  AUTHORS   Haas,R.H.
  TITLE     Thiamin and the brain
  JOURNAL   Annu Rev Nutr 8, 483-515 (1988)
   PUBMED   3060175
  REMARK    Review article
REFERENCE   9  (bases 1 to 2369)
  AUTHORS   Bohn,H. and Winckler,W.
  TITLE     Isolation and characterization of four new placental tissue
            proteins (PP18, PP19, PP20, PP21)
  JOURNAL   Arch Gynecol 236 (4), 235-242 (1985)
   PUBMED   3896163
REFERENCE   10 (bases 1 to 2369)
  AUTHORS   Iwashima,A., Kinugasa,A. and Nose,Y.
  TITLE     Radiometric assay for thiamine pyrophosphokinase activity in human
            leukocytes
  JOURNAL   Acta Vitaminol Enzymol 5 (1), 41-45 (1983)
   PUBMED   6303095
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC074384.7, AC004743.1,
            AC004833.1, AC004864.1 and AC004534.1.
            
            On Apr 26, 2017 this sequence version replaced XM_017011983.1.
            
            Summary: The protein encoded by this gene functions as a homodimer
            and catalyzes the conversion of thiamine to thiamine pyrophosphate,
            a cofactor for some enzymes of the glycolytic and energy production
            pathways. Defects in this gene are a cause of thiamine metabolism
            dysfunction syndrome-5. [provided by RefSeq, Apr 2017].
            
            Transcript Variant: This variant (13), as well as variants 9, 10,
            11, 12, and 14, encodes isoform e.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR1660803.111402.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-87                AC074384.7         20594-20680         c
            88-146              AC074384.7         20187-20245         c
            147-218             AC004743.1         66259-66330         c
            219-291             AC004833.1         17876-17948         c
            292-387             AC004864.1         98830-98925         c
            388-534             AC004864.1         67087-67233         c
            535-646             AC004864.1         24155-24266         c
            647-2369            AC004534.1         107316-109038       c
FEATURES             Location/Qualifiers
     source          1..2369
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q35"
     gene            1..2369
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /note="thiamin pyrophosphokinase 1"
                     /db_xref="GeneID:27010"
                     /db_xref="HGNC:HGNC:17358"
                     /db_xref="MIM:606370"
     exon            1..87
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            88..146
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            147..218
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            219..291
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            292..387
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /inference="alignment:Splign:2.1.0"
     CDS             352..765
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /EC_number="2.7.6.2"
                     /note="isoform e is encoded by transcript variant 13;
                     placental protein 20; thiamine kinase; thiamine
                     diphosphokinase"
                     /codon_start=1
                     /product="thiamine pyrophosphokinase 1 isoform e"
                     /protein_id="NP_001337822.1"
                     /db_xref="GeneID:27010"
                     /db_xref="HGNC:HGNC:17358"
                     /db_xref="MIM:606370"
                     /translation="MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITP
                     FPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDV
                     LAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS"
     exon            388..534
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            535..646
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            647..2369
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2343..2348
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /note="hexamer: AATAAA"
     polyA_site      2369
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /note="major polyA site"
ORIGIN      
        1 aaggctcctc agccgagcgc cgagcggtcg atcgccgtag ctcccgcagc ctgcgatctc
       61 cagtctgtgg ctcctaccag ccattgtagg ccaataatcc gttatggagc atgcctttac
      121 cccgttggag cccctgcttt ccactgggaa tttgaagtac tgccttgtaa ttcttaatca
      181 gcctttggac aactattttc gtcatctttg gaacaaagct ttttgcctga attcatcaat
      241 ggagactttg attctattag gcctgaagtc agagaatact atgctactaa gggatgtgag
      301 ctcatttcaa ctcctgatca agaccacact gactttacta agtgccttaa aatgctccaa
      361 aagaagatag aagaaaaaga cttaaaggtt gatgtgatcg tgacactggg aggccttgct
      421 gggcgttttg accagattat ggcatctgtg aataccttgt tccaagcgac tcacatcact
      481 ccttttccaa ttataataat ccaagaggaa tcgctgatct acctgctcca accaggaaag
      541 cacaggttgc atgtagacac tggaatggag ggtgattggt gtggccttat tcctgttgga
      601 cagccttgta tgcaggttac aaccacaggc ctcaagtgga acctcacaaa tgatgtgctt
      661 gcttttggaa cattggtcag tacttccaat acctacgacg ggtctggtgt tgtgactgtg
      721 gaaactgacc acccactcct ctggaccatg gccatcaaaa gctaacctgt tgactggcat
      781 ccataagtgt gcctctgcct tatctcattt ctcaacagtt cattgctcaa caagaacgat
      841 tcacctgggt ttgcaagaat ctaaacctct ctaggggaag cccactgggt ttaaagatgt
      901 tagtgtttag ataatacagg taacattata aatgacagat ctcaatttta tagtagtggg
      961 aaagatacat gctaagaaag caaataagct ctattatatt cggttggaac ctaatgggaa
     1021 tcattccact atacaattca gtactgatta ttcttcttac attattaatc attccattta
     1081 tcctagaaaa ttgtttttaa tttgaatcag agaaaactgt tgaggttcct cttggagtct
     1141 agaacatcct taaatgtcta acaacaaggg ctacctctga gtacctttta gtattagttt
     1201 tctgtatatg atatatatta tcttatactg aaaaaaaatt cctttcagat tggggtgtta
     1261 gaagtgcacc aggtcactct gaccttatta ctgtctttgg tattgtctta aataaatcaa
     1321 gaatcattga cctaattgtt aaatttaaaa ataggtagtt agcaataggt ggaaagagaa
     1381 atgatgtgaa agataaatga tgattcgtgg agccctactc acacattaac ccccaaattc
     1441 aaaagtaaga atgcaaaagt ctagaggggg taacagtctg catcatcatc acaacctaaa
     1501 tggagaaagc tgtgcagagg aaacttaagc ataaaaattg aattcgtttc tgacatacct
     1561 tagactgaaa aactgttggt tcatccagaa gtgtattcat attaccagaa aatgagtttg
     1621 tctatgggga tacatgaact tcatatacta aggagcctaa ctccaaagcc tgcgttctca
     1681 tcccagtctg atattcacct aagtttccgg acccttttcc ttagctgtaa aatggaagcg
     1741 gttggactga tggtgtctga ggttctttcc cacactgaaa ttctaaatat tgacacttag
     1801 cagtcatagg gctgataata cacacagtta ctgacttagc ctaaacaacc tggtgcatcg
     1861 aaatgtattc acctttcttt tgtaaagaga ccatcttcta tcttctttcc acctttctct
     1921 gttttatgaa accaactgtt gacatacaaa ccatgattga aggagaacct gtccaacatg
     1981 ttttatgtac acaaatccct atgttgctat aagaaaagtg aaagtaactg ttttcttctt
     2041 ggtgctatga cagtgtgaga ctcaggttgt ctgtagagaa tgaaaggagc agtggcccgc
     2101 gtgattgtgg catttaagga gcagtggccc atgtgactgt ggcattttcg gcacttttca
     2161 ttactttctg cttgaccgga agttgaggct tagctatgtt tccatcttca gtttctgaag
     2221 actagttata tattccttac tagaaatata ttcataatat ataaaagaaa tatatctgtg
     2281 attttaaaat tttgctacca aagaatgcat gttctgtgtg ccctgaaaat gttaccagtg
     2341 ttaataaatg gatacttatc aaaaaagaa
//
