LOCUS       NM_022445               2439 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant
            1, mRNA.
ACCESSION   NM_022445
VERSION     NM_022445.4
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 2439)
  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 2439)
  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 2439)
  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 2439)
  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 2439)
  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 2439)
  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 2439)
  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 2439)
  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 2439)
  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 2439)
  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 DA135998.1, AF297710.1 and
            BC040555.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_022445.3.
            
            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 (1) encodes the longest isoform
            (a). Variants 1 and 3 both encode the same isoform (a).
            
            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 :: AF297710.1, AY206415.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000360057.7/ ENSP00000353165.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                DA135998.1         1-13
            14-2430             AF297710.1         1-2417
            2431-2439           BC040555.1         2807-2815
FEATURES             Location/Qualifiers
     source          1..2439
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q35"
     gene            1..2439
                     /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"
     CDS             104..835
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /EC_number="2.7.6.2"
                     /note="isoform a is encoded by transcript variant 1;
                     placental protein 20; thiamine kinase; thiamine
                     diphosphokinase"
                     /codon_start=1
                     /product="thiamine pyrophosphokinase 1 isoform a"
                     /protein_id="NP_071890.2"
                     /db_xref="CCDS:CCDS5888.1"
                     /db_xref="GeneID:27010"
                     /db_xref="HGNC:HGNC:17358"
                     /db_xref="MIM:606370"
                     /translation="MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRAC
                     ADGGANRLYDITEGERESFLPEFINGDFDSIRPEVREYYATKGCELISTPDQDHTDFT
                     KCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEES
                     LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTS
                     NTYDGSGVVTVETDHPLLWTMAIKS"
     exon            147..218
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            219..288
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            289..361
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            362..457
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            458..604
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            605..716
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            717..2439
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2413..2418
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPK1"
                     /gene_synonym="HTPK1; PP20; THMD5"
                     /note="hexamer: AATAAA"
     polyA_site      2439
                     /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 cttttaagag cctgtgccga
      241 tggaggtgcc aaccgcttat atgatatcac cgaaggagag agagaaagct ttttgcctga
      301 attcatcaat ggagactttg attctattag gcctgaagtc agagaatact atgctactaa
      361 gggatgtgag ctcatttcaa ctcctgatca agaccacact gactttacta agtgccttaa
      421 aatgctccaa aagaagatag aagaaaaaga cttaaaggtt gatgtgatcg tgacactggg
      481 aggccttgct gggcgttttg accagattat ggcatctgtg aataccttgt tccaagcgac
      541 tcacatcact ccttttccaa ttataataat ccaagaggaa tcgctgatct acctgctcca
      601 accaggaaag cacaggttgc atgtagacac tggaatggag ggtgattggt gtggccttat
      661 tcctgttgga cagccttgta tgcaggttac aaccacaggc ctcaagtgga acctcacaaa
      721 tgatgtgctt gcttttggaa cattggtcag tacttccaat acctacgacg ggtctggtgt
      781 tgtgactgtg gaaactgacc acccactcct ctggaccatg gccatcaaaa gctaacctgt
      841 tgactggcat ccataagtgt gcctctgcct tatctcattt ctcaacagtt cattgctcaa
      901 caagaacgat tcacctgggt ttgcaagaat ctaaacctct ctaggggaag cccactgggt
      961 ttaaagatgt tagtgtttag ataatacagg taacattata aatgacagat ctcaatttta
     1021 tagtagtggg aaagatacat gctaagaaag caaataagct ctattatatt cggttggaac
     1081 ctaatgggaa tcattccact atacaattca gtactgatta ttcttcttac attattaatc
     1141 attccattta tcctagaaaa ttgtttttaa tttgaatcag agaaaactgt tgaggttcct
     1201 cttggagtct agaacatcct taaatgtcta acaacaaggg ctacctctga gtacctttta
     1261 gtattagttt tctgtatatg atatatatta tcttatactg aaaaaaaatt cctttcagat
     1321 tggggtgtta gaagtgcacc aggtcactct gaccttatta ctgtctttgg tattgtctta
     1381 aataaatcaa gaatcattga cctaattgtt aaatttaaaa ataggtagtt agcaataggt
     1441 ggaaagagaa atgatgtgaa agataaatga tgattcgtgg agccctactc acacattaac
     1501 ccccaaattc aaaagtaaga atgcaaaagt ctagaggggg taacagtctg catcatcatc
     1561 acaacctaaa tggagaaagc tgtgcagagg aaacttaagc ataaaaattg aattcgtttc
     1621 tgacatacct tagactgaaa aactgttggt tcatccagaa gtgtattcat attaccagaa
     1681 aatgagtttg tctatgggga tacatgaact tcatatacta aggagcctaa ctccaaagcc
     1741 tgcgttctca tcccagtctg atattcacct aagtttccgg acccttttcc ttagctgtaa
     1801 aatggaagcg gttggactga tggtgtctga ggttctttcc cacactgaaa ttctaaatat
     1861 tgacacttag cagtcatagg gctgataata cacacagtta ctgacttagc ctaaacaacc
     1921 tggtgcatcg aaatgtattc acctttcttt tgtaaagaga ccatcttcta tcttctttcc
     1981 acctttctct gttttatgaa accaactgtt gacatacaaa ccatgattga aggagaacct
     2041 gtccaacatg ttttatgtac acaaatccct atgttgctat aagaaaagtg aaagtaactg
     2101 ttttcttctt ggtgctatga cagtgtgaga ctcaggttgt ctgtagagaa tgaaaggagc
     2161 agtggcccgc gtgattgtgg catttaagga gcagtggccc atgtgactgt ggcattttcg
     2221 gcacttttca ttactttctg cttgaccgga agttgaggct tagctatgtt tccatcttca
     2281 gtttctgaag actagttata tattccttac tagaaatata ttcataatat ataaaagaaa
     2341 tatatctgtg attttaaaat tttgctacca aagaatgcat gttctgtgtg ccctgaaaat
     2401 gttaccagtg ttaataaatg gatacttatc aaaaaagaa
//
