LOCUS       NM_012253               2518 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens transketolase like 1 (TKTL1), transcript variant 1,
            mRNA.
ACCESSION   NM_012253
VERSION     NM_012253.4
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 2518)
  AUTHORS   Xie,C., Wang,S., Guo,C., Liu,Y. and Zeng,M.
  TITLE     Apo10 and TKTL1 in blood macrophages as biomarkers for
            differentiating lung cancer from benign lung lesions: a comparative
            study with conventional biomarkers
  JOURNAL   Cell Oncol (Dordr) 46 (6), 1725-1729 (2023)
   PUBMED   37378867
  REMARK    GeneRIF: Apo10 and TKTL1 in blood macrophages as biomarkers for
            differentiating lung cancer from benign lung lesions: a comparative
            study with conventional biomarkers.
REFERENCE   2  (bases 1 to 2518)
  AUTHORS   Pinson,A., Xing,L., Namba,T., Kalebic,N., Peters,J., Oegema,C.E.,
            Traikov,S., Reppe,K., Riesenberg,S., Maricic,T., Derihaci,R.,
            Wimberger,P., Paabo,S. and Huttner,W.B.
  TITLE     Human TKTL1 implies greater neurogenesis in frontal neocortex of
            modern humans than Neanderthals
  JOURNAL   Science 377 (6611), eabl6422 (2022)
   PUBMED   36074851
  REMARK    GeneRIF: Human TKTL1 implies greater neurogenesis in frontal
            neocortex of modern humans than Neanderthals.
REFERENCE   3  (bases 1 to 2518)
  AUTHORS   Baptista,I., Karakitsou,E., Cazier,J.B., Gunther,U.L., Marin,S. and
            Cascante,M.
  TITLE     TKTL1 Knockdown Impairs Hypoxia-Induced Glucose-6-phosphate
            Dehydrogenase and Glyceraldehyde-3-phosphate Dehydrogenase
            Overexpression
  JOURNAL   Int J Mol Sci 23 (7), 3574 (2022)
   PUBMED   35408935
  REMARK    GeneRIF: TKTL1 Knockdown Impairs Hypoxia-Induced
            Glucose-6-phosphate Dehydrogenase and Glyceraldehyde-3-phosphate
            Dehydrogenase Overexpression.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2518)
  AUTHORS   Ma,L., Li,H., Lin,Y., Wang,G., Xu,Q., Chen,Y., Xiao,K. and Rao,X.
  TITLE     CircDUSP16 Contributes to Cell Development in Esophageal Squamous
            Cell Carcinoma by Regulating miR-497-5p/TKTL1 Axis
  JOURNAL   J Surg Res 260, 64-75 (2021)
   PUBMED   33326930
  REMARK    GeneRIF: CircDUSP16 Contributes to Cell Development in Esophageal
            Squamous Cell Carcinoma by Regulating miR-497-5p/TKTL1 Axis.
REFERENCE   5  (bases 1 to 2518)
  AUTHORS   Sequeda-JuArez,A., JimEnez,A., Espinosa-Montesinos,A., Del Carmen
            Cardenas-Aguayo,M. and RamOn-Gallegos,E.
  TITLE     Use of AKR1C1 and TKTL1 in the Diagnosis of Low-grade Squamous
            Intraepithelial Lesions from Mexican Women
  JOURNAL   Anticancer Res 40 (11), 6273-6284 (2020)
   PUBMED   33109565
  REMARK    GeneRIF: Use of AKR1C1 and TKTL1 in the Diagnosis of Low-grade
            Squamous Intraepithelial Lesions from Mexican Women.
REFERENCE   6  (bases 1 to 2518)
  AUTHORS   Zhang,S., Yang,J.H., Guo,C.K. and Cai,P.C.
  TITLE     Gene silencing of TKTL1 by RNAi inhibits cell proliferation in
            human hepatoma cells
  JOURNAL   Cancer Lett 253 (1), 108-114 (2007)
   PUBMED   17321041
  REMARK    GeneRIF: These results indicate that TKTL1 gene influences total
            transketolase activity and cell proliferation in human hepatoma
            cells.
            GeneRIF: RNAi-mediated suppression of TKTL1 in hepatoma cells
            significantly reduces total transketolase activity and inhibits
            proliferation. Findings suggest that TKTL1 plays an important role
            in glycometabolism and cell cycle progression in tumors.
REFERENCE   7  (bases 1 to 2518)
  AUTHORS   Staiger,W.I., Coy,J.F., Grobholz,R., Hofheinz,R.D., Lukan,N.,
            Post,S., Schwarzbach,M.H. and Willeke,F.
  TITLE     Expression of the mutated transketolase TKTL1, a molecular marker
            in gastric cancer
  JOURNAL   Oncol Rep 16 (4), 657-661 (2006)
   PUBMED   16969476
  REMARK    GeneRIF: TKTL1 upregulation is a common phenomenon in gastric
            cancer and cancer of the gastroesophageal junction leading to an
            enhanced, oxygen-independent glucose usage which might contribute
            to a more aggressive tumor growth
REFERENCE   8  (bases 1 to 2518)
  AUTHORS   Langbein,S., Zerilli,M., Zur Hausen,A., Staiger,W.,
            Rensch-Boschert,K., Lukan,N., Popa,J., Ternullo,M.P., Steidler,A.,
            Weiss,C., Grobholz,R., Willeke,F., Alken,P., Stassi,G., Schubert,P.
            and Coy,J.F.
  TITLE     Expression of transketolase TKTL1 predicts colon and urothelial
            cancer patient survival: Warburg effect reinterpreted
  JOURNAL   Br J Cancer 94 (4), 578-585 (2006)
   PUBMED   16465194
  REMARK    GeneRIF: Findings strongly indicate that overexpression of TKTL1 is
            responsible for observed tumor-specific effects of transketolase
            enzyme reactions
REFERENCE   9  (bases 1 to 2518)
  AUTHORS   Coy,J.F., Dressler,D., Wilde,J. and Schubert,P.
  TITLE     Mutations in the transketolase-like gene TKTL1: clinical
            implications for neurodegenerative diseases, diabetes and cancer
  JOURNAL   Clin Lab 51 (5-6), 257-273 (2005)
   PUBMED   15991799
  REMARK    GeneRIF: demonstrate the presence of a second transketolase enzyme
            (TKTL1) in humans. This protein and its mutations and clinical
            implications are characterized.
REFERENCE   10 (bases 1 to 2518)
  AUTHORS   Coy,J.F., Dubel,S., Kioschis,P., Thomas,K., Micklem,G., Delius,H.
            and Poustka,A.
  TITLE     Molecular cloning of tissue-specific transcripts of a
            transketolase-related gene: implications for the evolution of new
            vertebrate genes
  JOURNAL   Genomics 32 (3), 309-316 (1996)
   PUBMED   8838793
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG718121.1, AK292261.1 and
            DB524246.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_012253.3.
            
            Summary: The protein encoded by this gene is a transketolase that
            acts as a homodimer and catalyzes the conversion of sedoheptulose
            7-phosphate and D-glyceraldehyde 3-phosphate to D-ribose
            5-phosphate and D-xylulose 5-phosphate. This reaction links the
            pentose phosphate pathway with the glycolytic pathway. Variations
            in this gene may be the cause of Wernicke-Korsakoff syndrome. Three
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Mar 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: SRR5189667.133690.1,
                                           SRR5189667.185621.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142363
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369915.8/ ENSP00000358931.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 BG718121.1         130-132
            4-2367              AK292261.1         1-2364
            2368-2518           DB524246.1         309-459
FEATURES             Location/Qualifiers
     source          1..2518
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..2518
                     /gene="TKTL1"
                     /gene_synonym="TKR; TKT2"
                     /note="transketolase like 1"
                     /db_xref="GeneID:8277"
                     /db_xref="HGNC:HGNC:11835"
                     /db_xref="MIM:300044"
     exon            1..199
                     /gene="TKTL1"
                     /gene_synonym="TKR; TKT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..1856
                     /gene="TKTL1"
                     /gene_synonym="TKR; TKT2"
                     /EC_number="2.2.1.1"
                     /note="isoform a is encoded by transcript variant 1;
                     transketolase-2; transketolase-related protein; TK 2"
                     /codon_start=1
                     /product="transketolase-like protein 1 isoform a"
                     /protein_id="NP_036385.3"
                     /db_xref="CCDS:CCDS35448.1"
                     /db_xref="GeneID:8277"
                     /db_xref="HGNC:HGNC:11835"
                     /db_xref="MIM:300044"
                     /translation="MADAEARAEFPEEARPDRGTLQVLQDMASRLRIHSIRATCSTSS
                     GHPTSCSSSSEIMSVLFFYIMRYKQSDPENPDNDRFVLAKRLSFVDVATGWLGQGLGV
                     ACGMAYTGKYFDRASYRVFCLMSDGESSEGSVWEAMAFASYYSLDNLVAIFDVNRLGH
                     SGALPAEHCINIYQRRCEAFGWNTYVVDGRDVEALCQVFWQASQVKHKPTAVVAKTFK
                     GRGTPSIEDAESWHAKPMPRERADAIIKLIESQIQTSRNLDPQPPIEDSPEVNITDVR
                     MTSPPDYRVGDKIATRKACGLALAKLGYANNRVVVLDGDTRYSTFSEIFNKEYPERFI
                     ECFMAEQNMVSVALGCASRGRTIAFASTFAAFLTRAFDHIRIGGLAESNINIIGSHCG
                     VSVGDDGASQMALEDIAMFRTIPKCTIFYPTDAVSTEHAVALAANAKGMCFIRTTRPE
                     TMVIYTPQERFEIGQAKVLRHCVSDKVTVIGAGITVYEALAAADELSKQDIFIRVIDL
                     FTIKPLDVATIVSSAKATEGRIITVEDHYPQGGIGEAVCAAVSMDPDIQVHSLAVSGV
                     PQSGKSEELLDMYGISARHIIVAVKCMLLN"
     exon            200..317
                     /gene="TKTL1"
                     /gene_synonym="TKR; TKT2"
                     /inference="alignment:Splign:2.1.0"
     exon            318..415
                     /gene="TKTL1"
                     /gene_synonym="TKR; TKT2"
                     /inference="alignment:Splign:2.1.0"
     exon            416..607
                     /gene="TKTL1"
                     /gene_synonym="TKR; TKT2"
                     /inference="alignment:Splign:2.1.0"
     exon            608..735
                     /gene="TKTL1"
                     /gene_synonym="TKR; TKT2"
                     /inference="alignment:Splign:2.1.0"
     exon            736..929
                     /gene="TKTL1"
                     /gene_synonym="TKR; TKT2"
                     /inference="alignment:Splign:2.1.0"
     exon            930..1094
                     /gene="TKTL1"
                     /gene_synonym="TKR; TKT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1095..1251
                     /gene="TKTL1"
                     /gene_synonym="TKR; TKT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1252..1382
                     /gene="TKTL1"
                     /gene_synonym="TKR; TKT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1383..1466
                     /gene="TKTL1"
                     /gene_synonym="TKR; TKT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1467..1563
                     /gene="TKTL1"
                     /gene_synonym="TKR; TKT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1564..1683
                     /gene="TKTL1"
                     /gene_synonym="TKR; TKT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1684..2518
                     /gene="TKTL1"
                     /gene_synonym="TKR; TKT2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2499..2504
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TKTL1"
                     /gene_synonym="TKR; TKT2"
                     /note="hexamer: AATAAA"
     polyA_site      2518
                     /gene="TKTL1"
                     /gene_synonym="TKR; TKT2"
                     /note="major polyA site"
ORIGIN      
        1 gccattcgct cttcagacgc cggagacgta ggagtgggtc ttcagactcc aaaggggttg
       61 gactaatggc ggatgctgag gcgagggctg agttcccgga ggaggccaga cctgacaggg
      121 gcaccttgca ggtgttgcaa gatatggcca gccgcttgcg aatccattcc atcagggcca
      181 catgctccac gagctccggc caccctacat catgtagcag ttcttctgag atcatgtctg
      241 tgctgttctt ctacatcatg aggtacaagc agtcagatcc agagaatccg gacaacgacc
      301 gatttgtcct cgcaaagaga ctgtcgtttg tggatgtggc aacaggatgg ctcggacaag
      361 gactgggagt tgcatgtgga atggcatata ctggcaagta cttcgacagg gccagctacc
      421 gggtgttctg cctcatgagt gatggcgagt cctcagaagg ctctgtctgg gaggcaatgg
      481 cctttgcttc ctactacagt ctggacaatc ttgtggcaat ctttgatgtg aaccgcctgg
      541 gacacagtgg tgcattgccc gccgagcact gcataaacat ctatcagagg cgctgcgaag
      601 cctttgggtg gaacacttat gtggtggacg gccgggacgt ggaggcactg tgccaggtat
      661 tctggcaggc ttctcaggtg aagcacaagc ccactgctgt ggtggccaag accttcaagg
      721 gccggggcac cccaagtatt gaggatgcag aaagttggca tgcaaagcca atgccgagag
      781 aaagagcaga tgccattatc aaattaattg agagccagat acagaccagc aggaatcttg
      841 acccacagcc ccccattgag gactcacctg aagtcaacat cacagatgta aggatgacct
      901 ctccacctga ttacagagtt ggtgacaaga tagctactcg gaaagcatgc ggtctggctc
      961 tggctaagct gggctacgcg aacaacagag tcgttgtgct ggatggtgac accaggtact
     1021 ctactttctc tgagatattc aacaaggagt accctgagcg cttcatcgag tgctttatgg
     1081 ctgaacaaaa catggtgagc gtggctctgg gctgtgcctc ccgtggacgg accattgctt
     1141 ttgctagcac ctttgctgcc tttctgactc gagcatttga tcacatccgg ataggaggcc
     1201 tcgctgagag caacatcaac attattggtt cccactgtgg ggtatctgtt ggtgacgatg
     1261 gtgcttccca gatggccctg gaggatatag ccatgttccg aaccattccc aagtgcacga
     1321 tcttctaccc aactgatgcc gtctccacgg agcatgctgt tgctctggca gccaatgcca
     1381 aggggatgtg cttcattcgg accacccgac cagaaactat ggttatttac accccacaag
     1441 aacgctttga gatcggacag gccaaggtcc tccgccactg tgtcagtgac aaggtcacag
     1501 ttattggagc tggaattact gtgtatgaag ccttagcagc tgctgatgag ctttcgaaac
     1561 aagatatttt tatccgtgtc atcgacctgt ttaccattaa acctctggat gtcgccacca
     1621 tcgtctccag tgcaaaagcc acagagggcc ggatcattac agtggaggat cactacccgc
     1681 aaggtggcat cggggaagct gtctgcgcag ccgtctccat ggatcctgac attcaggttc
     1741 attcgctggc agtgtcggga gtgccccaga gtgggaagtc cgaggaattg ctggatatgt
     1801 atggaattag tgccagacat atcatagtgg ccgtgaaatg catgttgctg aactaaaata
     1861 gctgttagct ttggtctttt ggcctcttta ccctgtgttt atgtttgttc caaaaccatc
     1921 atttaaatct ctactgtcac attttgtttc ttaaaagcaa agccagctaa caccttcatt
     1981 catccctagt tcggaaattc aagctaacta cttacccttt aaactgtcac tgcatatgca
     2041 agtaccgctc taatttttgg atcattaaag ggagttacac aacttttaag tgaaaaaaat
     2101 aggtaacaaa acaaccacct gatagtaagt tttctgataa gactatagat aagtggtaga
     2161 ggtaatcaat tcttccgaag tgtttccttc gtgaataact ggtagaggta atagtttttt
     2221 caatgtattt ccttcatgag taaagaaaat gtggattgaa gtatagattc cagtagccta
     2281 gtttccacag cacgataaca ccatgacgcc tactgctgtt cccaccttgg gattctgtgt
     2341 gctgccatcc cacctgcagc tgccctggaa ttcccttcgc tgtttgcctt catctccctc
     2401 cacgtttgag aggctgtcag gcagcagcga aagcttgtta ggatgtcctg tgctgcttgt
     2461 gatgagagcc tccacactgt actgttcaag tcaatgttaa taaagcattt caaaacca
//
