LOCUS       NM_024328               2611 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens thiamine triphosphatase (THTPA), transcript variant 1,
            mRNA.
ACCESSION   NM_024328 XM_370754
VERSION     NM_024328.6
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 2611)
  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   2  (bases 1 to 2611)
  AUTHORS   Lakaye,B., Makarchikov,A.F., Wins,P., Margineanu,I., Roland,S.,
            Lins,L., Aichour,R., Lebeau,L., El Moualij,B., Zorzi,W.,
            Coumans,B., Grisar,T. and Bettendorff,L.
  TITLE     Human recombinant thiamine triphosphatase: purification, secondary
            structure and catalytic properties
  JOURNAL   Int J Biochem Cell Biol 36 (7), 1348-1364 (2004)
   PUBMED   15109578
  REMARK    GeneRIF: The untagged recombinant human ThTPase (hThTPase) was
            expressed in E. coli and purified to homogeneity.
REFERENCE   3  (bases 1 to 2611)
  AUTHORS   Makarchikov,A.F., Lakaye,B., Gulyai,I.E., Czerniecki,J.,
            Coumans,B., Wins,P., Grisar,T. and Bettendorff,L.
  TITLE     Thiamine triphosphate and thiamine triphosphatase activities: from
            bacteria to mammals
  JOURNAL   Cell Mol Life Sci 60 (7), 1477-1488 (2003)
   PUBMED   12943234
REFERENCE   4  (bases 1 to 2611)
  AUTHORS   Lakaye,B., Makarchikov,A.F., Antunes,A.F., Zorzi,W., Coumans,B., De
            Pauw,E., Wins,P., Grisar,T. and Bettendorff,L.
  TITLE     Molecular characterization of a specific thiamine triphosphatase
            widely expressed in mammalian tissues
  JOURNAL   J Biol Chem 277 (16), 13771-13777 (2002)
   PUBMED   11827967
REFERENCE   5  (bases 1 to 2611)
  AUTHORS   Haas,R.H.
  TITLE     Thiamin and the brain
  JOURNAL   Annu Rev Nutr 8, 483-515 (1988)
   PUBMED   3060175
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX161435.1, BC002984.1,
            BQ182954.1 and AL135999.4.
            
            On May 17, 2019 this sequence version replaced NM_024328.5.
            
            Summary: This gene encodes an enzyme which catalyzes the
            biosynthesis of thiamine disphophate (vitamin B1) by hydrolysis of
            thiamine triphosphate. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Dec 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1). Both variants 1 and
            2 encode the same isoform.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.80099.1,
                                           SRR1803612.20442.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000288014.7/ ENSP00000288014.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1883              BX161435.1         250-2132
            1884-1918           BC002984.1         1867-1901
            1919-1921           BQ182954.1         19-21               c
            1922-2611           AL135999.4         56872-57561
FEATURES             Location/Qualifiers
     source          1..2611
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..2611
                     /gene="THTPA"
                     /gene_synonym="THTP; THTPASE"
                     /note="thiamine triphosphatase"
                     /db_xref="GeneID:79178"
                     /db_xref="HGNC:HGNC:18987"
                     /db_xref="MIM:611612"
     exon            1..1034
                     /gene="THTPA"
                     /gene_synonym="THTP; THTPASE"
                     /inference="alignment:Splign:2.1.0"
     CDS             488..1180
                     /gene="THTPA"
                     /gene_synonym="THTP; THTPASE"
                     /EC_number="3.6.1.28"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="thiamine-triphosphatase isoform 1"
                     /protein_id="NP_077304.1"
                     /db_xref="CCDS:CCDS32053.1"
                     /db_xref="GeneID:79178"
                     /db_xref="HGNC:HGNC:18987"
                     /db_xref="MIM:611612"
                     /translation="MAQGLIEVERKFLPGPGTEERLQELGGTLEYRVTFRDTYYDTPE
                     LSLMQADHWLRRREDSGWELKCPGAAGVLGPHTEYKELTAEPTIVAQLCKVLRADGLG
                     AGDVAAVLGPLGLQEVASFVTKRSAWKLVLLGADEEEPQLRVDLDTADFGYAVGEVEA
                     LVHEEAEVPTALEKIHRLSSMLGVPAQETAPAKLIVYLQRFRPQDYQRLLEVNSSRER
                     PQETEDPDHCLG"
     exon            1035..2611
                     /gene="THTPA"
                     /gene_synonym="THTP; THTPASE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1893..1898
                     /regulatory_class="polyA_signal_sequence"
                     /gene="THTPA"
                     /gene_synonym="THTP; THTPASE"
                     /note="hexamer: AATATA"
     polyA_site      1918
                     /gene="THTPA"
                     /gene_synonym="THTP; THTPASE"
                     /note="major polyA site"
ORIGIN      
        1 attcctcgcg agtgtatggc gtgggctccc ttccccctct gtgggtcccg cgaggagact
       61 ctcgggcttt gaggtgagac ctgaagttcc gctggccggt agtgtagcag gaaagggcag
      121 gtcctcccgg gtcgtgagcc agtagcctcc tggggtggca aggtgtagag aggggggcgt
      181 tgaaaggaca cccgctaccc ggcctgcttt ctaggggtct ctttggattg aggacatcag
      241 cagcagtgga agggatttta ctggagacct gtcactgtca gagccttaaa atatcaccga
      301 cggggcctta atgtcaccga ggtagagaga aaagggcagt agccctagag actattgcga
      361 cacagtgtgc ccctcataag tttttccagg gaggggttct gtactgagtt gacgccccag
      421 gagctgagca ccaggctttg catccttggg aactcagcaa acgtttgttc agccaattgc
      481 aggtagcatg gcccagggct tgattgaggt ggagcgaaag ttccttccag ggcctggcac
      541 agaggagcgg ctgcaggagt tggggggcac cctggagtac cgggtcacct tccgagacac
      601 ctactatgac acccctgagc tgagcctcat gcaggctgac cactggctgc gacgacgaga
      661 ggatagtgga tgggagctca aatgtcctgg agcagcaggt gtcttaggac cccacacgga
      721 gtataaggaa ctcacagcgg aacctacaat tgtggcccaa ctctgtaagg tgctgcgggc
      781 tgacggcctg ggggctggag atgtggctgc tgtgctgggc ccactggggc tgcaggaagt
      841 agctagtttt gtgactaagc ggagtgcctg gaagctggtg ctcttgggag ctgatgaaga
      901 ggagccacag ctcagggtgg acttggatac agccgacttt ggctacgctg tgggtgaggt
      961 agaggccctg gtgcatgagg aggctgaagt accaactgcc ctagagaaga tccacaggct
     1021 cagcagcatg cttggtgtgc ctgcacagga gacagcacca gccaagctga ttgtgtatct
     1081 acagcgtttc cggcctcaag actatcagcg cctgctagaa gtgaacagct ccagagagag
     1141 gccacaggag actgaagatc ctgaccactg cctgggctag gggtgtcact tcctagaagg
     1201 ggaagggaac tctgggtcta acggagtcca ctcctgggcc cactgtgcct ctcccctcag
     1261 tgtcccttct gacagtgact cctctctctc cagcgctgcc tgtttcttcc ccctcctcta
     1321 agctactctt ccttgagccc tccctggctg cttcctctcg ctcatccgtc agatgcaatc
     1381 tgtgggccgc ccctctcccc tggccgctaa gcagcctcca ttgatttccg ctcgtgttta
     1441 taggatttcc acttagccgt gatcagtagt taagcacagg aaaatccctt gccacccccc
     1501 ctcccttggt cgatgccatt gattctgcca gcggctccta aaccgcctta cagctgagtt
     1561 agaagatgag gagaggcagc agggatttcc ctgccttggg atgtgggaaa cagaagaaaa
     1621 gttgaggaaa tggttgggaa tcgctgttag aactctagaa attctaatct gactttgcca
     1681 ctgtgcccag ctctggccca gagggtagag tgcctcctgt ggaagtttag gggcaaattt
     1741 gttccctgac ctggagaggg ttagaaagaa ccaacagctg ccccctcccc gcccccgtgt
     1801 tgagacaggt tctcaaggct caggggaaga tgcatacctc ctatgtaaga atgctcttcc
     1861 cttgctgtta ttcatacaca ctttccactt caaatatacc caaatatggc tttcctcact
     1921 tctcaggctt tattgggctt tatttgtggg agaagggggc tggtccccag tttttgcagt
     1981 gcaaagccag agcgccacct gctggtagcc ctcaggtgta ggttcgaagc tgctggggcc
     2041 ccctggggtt tgggacacag gagaatttca ggctgtgagt ggagacagtt actgccacga
     2101 ttccacaggc aagttgttca cctcaaagat ctcctgcacc gactggtgaa agtggtcgta
     2161 ggtgaggcgc agctttagcc gcaggggggc ctaggaatag gagagcaggg accagggtta
     2221 gcacccacgg cttcttctat ccctgggtct tgtcttgggg gaactcctga agctcacctt
     2281 gttaggattg aggattctga agagctgggt gataggaagg ccaccccgag ctggaactgt
     2341 gttcccactg ggggcctgca gctgcagctg gagactctga acacaggagt ttaacagagc
     2401 acagtatggc agtaggtagg gctcaggcag cccctctata ctcagtggct ccacaccctt
     2461 ttcctgtaac tccccaagtg ctgatctcca gatgactcaa tcccatctca cactgtctcc
     2521 cacccacctc ctccacttag tggccttttc tcctggagtc cccaggccac ctctgaactc
     2581 tgatctttac aaaccttggg cacagcagcc t
//
