LOCUS       NM_000365               1351 bp    mRNA    linear   PRI 04-AUG-2024
DEFINITION  Homo sapiens triosephosphate isomerase 1 (TPI1), transcript variant
            1, mRNA.
ACCESSION   NM_000365
VERSION     NM_000365.6
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 1351)
  AUTHORS   Sun,P., Li,Y., Liu,F. and Wang,L.
  TITLE     Generation and analysis of TPI deficiency zebrafish model
  JOURNAL   Yi Chuan 46 (3), 232-241 (2024)
   PUBMED   38632101
  REMARK    GeneRIF: Generation and analysis of TPI deficiency zebrafish model.
REFERENCE   2  (bases 1 to 1351)
  AUTHORS   Li,Y., Pan,B., Zhang,F., Jia,X., Zhu,X., Tong,X., Zhao,J. and Li,C.
  TITLE     TPI1 promotes MAPK/ERK-induced EMT, cell migration and invasion in
            lung adenocarcinoma
  JOURNAL   Thorac Cancer 15 (4), 327-338 (2024)
   PUBMED   38130074
  REMARK    GeneRIF: TPI1 promotes MAPK/ERK-induced EMT, cell migration and
            invasion in lung adenocarcinoma.
REFERENCE   3  (bases 1 to 1351)
  AUTHORS   Humphries,A., Ationu,A., Wild,B. and Layton,D.M.
  TITLE     The consequence of nucleotide substitutions in the triosephosphate
            isomerase (TPI) gene promoter
  JOURNAL   Blood Cells Mol Dis 25 (3-4), 210-217 (1999)
   PUBMED   10575546
REFERENCE   4  (bases 1 to 1351)
  AUTHORS   Ji,H., Reid,G.E., Moritz,R.L., Eddes,J.S., Burgess,A.W. and
            Simpson,R.J.
  TITLE     A two-dimensional gel database of human colon carcinoma proteins
  JOURNAL   Electrophoresis 18 (3-4), 605-613 (1997)
   PUBMED   9150948
REFERENCE   5  (bases 1 to 1351)
  AUTHORS   Rasmussen,R.K., Ji,H., Eddes,J.S., Moritz,R.L., Reid,G.E.,
            Simpson,R.J. and Dorow,D.S.
  TITLE     Two-dimensional electrophoretic analysis of human breast carcinoma
            proteins: mapping of proteins that bind to the SH3 domain of mixed
            lineage kinase MLK2
  JOURNAL   Electrophoresis 18 (3-4), 588-598 (1997)
   PUBMED   9150946
REFERENCE   6  (bases 1 to 1351)
  AUTHORS   Boyer,T.G. and Maquat,L.E.
  TITLE     Minimal sequence and factor requirements for the initiation of
            transcription from an atypical, TATATAA box-containing housekeeping
            promoter
  JOURNAL   J Biol Chem 265 (33), 20524-20532 (1990)
   PUBMED   2243103
REFERENCE   7  (bases 1 to 1351)
  AUTHORS   Boyer,T.G., Krug,J.R. and Maquat,L.E.
  TITLE     Transcriptional regulatory sequences of the housekeeping gene for
            human triosephosphate isomerase
  JOURNAL   J Biol Chem 264 (9), 5177-5187 (1989)
   PUBMED   2925688
REFERENCE   8  (bases 1 to 1351)
  AUTHORS   Brown,J.R., Daar,I.O., Krug,J.R. and Maquat,L.E.
  TITLE     Characterization of the functional gene and several processed
            pseudogenes in the human triosephosphate isomerase gene family
  JOURNAL   Mol Cell Biol 5 (7), 1694-1706 (1985)
   PUBMED   4022011
REFERENCE   9  (bases 1 to 1351)
  AUTHORS   Maquat,L.E., Chilcote,R. and Ryan,P.M.
  TITLE     Human triosephosphate isomerase cDNA and protein structure. Studies
            of triosephosphate isomerase deficiency in man
  JOURNAL   J Biol Chem 260 (6), 3748-3753 (1985)
   PUBMED   2579079
REFERENCE   10 (bases 1 to 1351)
  AUTHORS   Rethore,M.O., Kaplan,J.C., Junien,C. and Lejeune,J.
  TITLE     12pter to 12p12.2: possible assignment of human triose phosphate
            isomerase
  JOURNAL   Hum Genet 36 (2), 235-237 (1977)
   PUBMED   858628
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB444195.1, BC009329.2,
            AK222638.1 and U47924.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 6, 2019 this sequence version replaced NM_000365.5.
            
            Summary: This gene encodes an enzyme, consisting of two identical
            proteins, which catalyzes the isomerization of glyceraldehydes
            3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in
            glycolysis and gluconeogenesis. Mutations in this gene are
            associated with triosephosphate isomerase deficiency. Pseudogenes
            have been identified on chromosomes 1, 4, 6 and 7. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Apr 2009].
            
            Transcript Variant: This variant (1) encodes the predominant
            isoform (1).
            
            CCDS Note: This CCDS represents a TPI variant that uses an internal
            promoter compared to the CCDS53740.1 representation. Data in PMIDs
            4022011, 2925688, 2243103 and 10575546 support the presence of the
            internal promoter used by this variant. The resulting isoform is 37
            aa shorter at the N-terminus compared to the CCDS53740.1 isoform.
            N-terminal sequencing in PMIDs 9150946 and 9150948 supports the
            existence of the shorter isoform in vivo.
            
            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 :: EU794668.1, BC015100.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396705.10/ ENSP00000379933.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                DB444195.1         112-122
            12-1231             BC009329.2         1-1220
            1232-1349           AK222638.1         1223-1340
            1350-1351           U47924.1           82957-82958
FEATURES             Location/Qualifiers
     source          1..1351
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..1351
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /note="triosephosphate isomerase 1"
                     /db_xref="GeneID:7167"
                     /db_xref="HGNC:HGNC:12009"
                     /db_xref="MIM:190450"
     exon            1..151
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..786
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /EC_number="5.3.1.1"
                     /EC_number="4.2.3.3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     triose-phosphate isomerase; epididymis secretory protein
                     Li 49; methylglyoxal synthase"
                     /codon_start=1
                     /product="triosephosphate isomerase isoform 1"
                     /protein_id="NP_000356.1"
                     /db_xref="CCDS:CCDS8566.1"
                     /db_xref="GeneID:7167"
                     /db_xref="HGNC:HGNC:12009"
                     /db_xref="MIM:190450"
                     /translation="MAPSRKFFVGGNWKMNGRKQSLGELIGTLNAAKVPADTEVVCAP
                     PTAYIDFARQKLDPKIAVAAQNCYKVTNGAFTGEISPGMIKDCGATWVVLGHSERRHV
                     FGESDELIGQKVAHALAEGLGVIACIGEKLDEREAGITEKVVFEQTKVIADNVKDWSK
                     VVLAYEPVWAIGTGKTATPQQAQEVHEKLRGWLKSNVSDAVAQSTRIIYGGSVTGATC
                     KELASQPDVDGFLVGGASLKPEFVDIINAKQ"
     exon            152..275
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /inference="alignment:Splign:2.1.0"
     exon            276..360
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /inference="alignment:Splign:2.1.0"
     exon            361..493
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /inference="alignment:Splign:2.1.0"
     exon            494..579
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /inference="alignment:Splign:2.1.0"
     exon            580..667
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /inference="alignment:Splign:2.1.0"
     exon            668..1351
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1214..1219
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /note="hexamer: AATAAA"
     polyA_site      1231
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /note="major polyA site"
     regulatory      1326..1331
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /note="hexamer: AACAAG"
     polyA_site      1351
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
ORIGIN      
        1 gcagacactg accttcagcg cctcggctcc agcgccatgg cgccctccag gaagttcttc
       61 gttgggggaa actggaagat gaacgggcgg aagcagagtc tgggggagct catcggcact
      121 ctgaacgcgg ccaaggtgcc ggccgacacc gaggtggttt gtgctccccc tactgcctat
      181 atcgacttcg cccggcagaa gctagatccc aagattgctg tggctgcgca gaactgctac
      241 aaagtgacta atggggcttt tactggggag atcagccctg gcatgatcaa agactgcgga
      301 gccacgtggg tggtcctggg gcactcagag agaaggcatg tctttgggga gtcagatgag
      361 ctgattgggc agaaagtggc ccatgctctg gcagagggac tcggagtaat cgcctgcatt
      421 ggggagaagc tagatgaaag ggaagctggc atcactgaga aggttgtttt cgagcagaca
      481 aaggtcatcg cagataacgt gaaggactgg agcaaggtcg tcctggccta tgagcctgtg
      541 tgggccattg gtactggcaa gactgcaaca ccccaacagg cccaggaagt acacgagaag
      601 ctccgaggat ggctgaagtc caacgtctct gatgcggtgg ctcagagcac ccgtatcatt
      661 tatggaggct ctgtgactgg ggcaacctgc aaggagctgg ccagccagcc tgatgtggat
      721 ggcttccttg tgggtggtgc ttccctcaag cccgaattcg tggacatcat caatgccaaa
      781 caatgagccc catccatctt ccctaccctt cctgccaagc cagggactaa gcagcccaga
      841 agcccagtaa ctgccctttc cctgcatatg cttctgatgg tgtcatctgc tccttcctgt
      901 ggcctcatcc aaactgtatc ttcctttact gtttatatct tcaccctgta atggttggga
      961 ccaggccaat cccttctcca cttactataa tggttggaac taaacgtcac caaggtggct
     1021 tctccttggc tgagagatgg aaggcgtggt gggatttgct cctgggttcc ctaggcccta
     1081 gtgagggcag aagagaaacc atcctctccc ttcttacacc gtgaggccaa gatcccctca
     1141 gaaggcagga gtgctgccct ctcccatggt gcccgtgcct ctgtgctgtg tatgtgaacc
     1201 acccatgtga gggaataaac ctggcactag gtcttgtggt ttgtctgcct tcactggact
     1261 tgcccagata atcttccttt ttgaggcagc tatataaatg atcatttgtg caagaaaaaa
     1321 aaaaaaacaa gaacaggttt ctataacaac a
//
