LOCUS       NM_004169               2527 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens serine hydroxymethyltransferase 1 (SHMT1), transcript
            variant 1, mRNA.
ACCESSION   NM_004169
VERSION     NM_004169.5
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 2527)
  AUTHORS   Spizzichino,S., Di Fonzo,F., Marabelli,C., Tramonti,A.,
            Chaves-Sanjuan,A., Parroni,A., Boumis,G., Liberati,F.R., Paone,A.,
            Montemiglio,L.C., Ardini,M., Jakobi,A.J., Bharadwaj,A., Swuec,P.,
            Tartaglia,G.G., Paiardini,A., Contestabile,R., Mai,A., Rotili,D.,
            Fiorentino,F., Macone,A., Giorgi,A., Tria,G., Rinaldo,S.,
            Bolognesi,M., Giardina,G. and Cutruzzola,F.
  TITLE     Structure-based mechanism of riboregulation of the metabolic enzyme
            SHMT1
  JOURNAL   Mol Cell 84 (14), 2682-2697 (2024)
   PUBMED   38996576
  REMARK    GeneRIF: Structure-based mechanism of riboregulation of the
            metabolic enzyme SHMT1.
REFERENCE   2  (bases 1 to 2527)
  AUTHORS   Gao,Y., Jing,N., Teng,X. and Wang,Y.
  TITLE     Serine hydroxymethyltransferase 1 promotes low-grade glioma
            progression by activating mTORC1 signaling
  JOURNAL   Neurol Res 45 (5), 415-422 (2023)
   PUBMED   36417280
  REMARK    GeneRIF: Serine hydroxymethyltransferase 1 promotes low-grade
            glioma progression by activating mTORC1 signaling.
REFERENCE   3  (bases 1 to 2527)
  AUTHORS   Pikman,Y., Ocasio-Martinez,N., Alexe,G., Dimitrov,B., Kitara,S.,
            Diehl,F.F., Robichaud,A.L., Conway,A.S., Ross,L., Su,A., Ling,F.,
            Qi,J., Roti,G., Lewis,C.A., Puissant,A., Vander Heiden,M.G. and
            Stegmaier,K.
  TITLE     Targeting serine hydroxymethyltransferases 1 and 2 for T-cell acute
            lymphoblastic leukemia therapy
  JOURNAL   Leukemia 36 (2), 348-360 (2022)
   PUBMED   34341479
  REMARK    GeneRIF: Targeting serine hydroxymethyltransferases 1 and 2 for
            T-cell acute lymphoblastic leukemia therapy.
REFERENCE   4  (bases 1 to 2527)
  AUTHORS   Renwick,S.B., Snell,K. and Baumann,U.
  TITLE     The crystal structure of human cytosolic serine
            hydroxymethyltransferase: a target for cancer chemotherapy
  JOURNAL   Structure 6 (9), 1105-1116 (1998)
   PUBMED   9753690
REFERENCE   5  (bases 1 to 2527)
  AUTHORS   Girgis,S., Nasrallah,I.M., Suh,J.R., Oppenheim,E., Zanetti,K.A.,
            Mastri,M.G. and Stover,P.J.
  TITLE     Molecular cloning, characterization and alternative splicing of the
            human cytoplasmic serine hydroxymethyltransferase gene
  JOURNAL   Gene 210 (2), 315-324 (1998)
   PUBMED   9573390
REFERENCE   6  (bases 1 to 2527)
  AUTHORS   Byrne,P.C., Shipley,J.M., Chave,K.J., Sanders,P.G. and Snell,K.
  TITLE     Characterisation of a human serine hydroxymethyltransferase
            pseudogene and its localisation to 1p32.3-33
  JOURNAL   Hum Genet 97 (3), 340-344 (1996)
   PUBMED   8786078
REFERENCE   7  (bases 1 to 2527)
  AUTHORS   Elsea,S.H., Juyal,R.C., Jiralerspong,S., Finucane,B.M.,
            Pandolfo,M., Greenberg,F., Baldini,A., Stover,P. and Patel,P.I.
  TITLE     Haploinsufficiency of cytosolic serine hydroxymethyltransferase in
            the Smith-Magenis syndrome
  JOURNAL   Am J Hum Genet 57 (6), 1342-1350 (1995)
   PUBMED   8533763
REFERENCE   8  (bases 1 to 2527)
  AUTHORS   Garrow,T.A., Brenner,A.A., Whitehead,V.M., Chen,X.N., Duncan,R.G.,
            Korenberg,J.R. and Shane,B.
  TITLE     Cloning of human cDNAs encoding mitochondrial and cytosolic serine
            hydroxymethyltransferases and chromosomal localization
  JOURNAL   J Biol Chem 268 (16), 11910-11916 (1993)
   PUBMED   8505317
REFERENCE   9  (bases 1 to 2527)
  AUTHORS   Masuda,T., Sakamoto,M., Nishizaki,I., Hayashi,H., Yamamoto,M. and
            Wada,H.
  TITLE     Affinity purification and characterization of serine
            hydroxymethyltransferases from rat liver
  JOURNAL   J Biochem 101 (3), 643-652 (1987)
   PUBMED   3110140
REFERENCE   10 (bases 1 to 2527)
  AUTHORS   Hulse,J.D., Ellis,S.R. and Henderson,L.M.
  TITLE     Carnitine biosynthesis. beta-Hydroxylation of trimethyllysine by an
            alpha-ketoglutarate-dependent mitochondrial dioxygenase
  JOURNAL   J Biol Chem 253 (5), 1654-1659 (1978)
   PUBMED   627563
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB451683.1, BC007979.2 and
            BC038598.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_004169.4.
            
            Summary: This gene encodes the cytosolic form of serine
            hydroxymethyltransferase, a pyridoxal phosphate-containing enzyme
            that catalyzes the reversible conversion of serine and
            tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate.
            This reaction provides one-carbon units for synthesis of
            methionine, thymidylate, and purines in the cytoplasm. This gene is
            located within the Smith-Magenis syndrome region on chromosome 17.
            A pseudogene of this gene is located on the short arm of chromosome
            1. Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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 :: BC038598.1, SRR1803615.235276.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145893
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000316694.8/ ENSP00000318868.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-143               DB451683.1         7-149
            144-1617            BC007979.2         3-1476
            1618-2527           BC038598.1         1488-2397
FEATURES             Location/Qualifiers
     source          1..2527
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     gene            1..2527
                     /gene="SHMT1"
                     /gene_synonym="CSHMT; SHMT"
                     /note="serine hydroxymethyltransferase 1"
                     /db_xref="GeneID:6470"
                     /db_xref="HGNC:HGNC:10850"
                     /db_xref="MIM:182144"
     exon            1..179
                     /gene="SHMT1"
                     /gene_synonym="CSHMT; SHMT"
                     /inference="alignment:Splign:2.1.0"
     exon            180..294
                     /gene="SHMT1"
                     /gene_synonym="CSHMT; SHMT"
                     /inference="alignment:Splign:2.1.0"
     CDS             199..1650
                     /gene="SHMT1"
                     /gene_synonym="CSHMT; SHMT"
                     /EC_number="2.1.2.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cytoplasmic serine hydroxymethyltransferase; serine
                     hydroxymethyltransferase, cytosolic; serine methylase;
                     glycine hydroxymethyltransferase; serine
                     hydroxymethyltransferase 1 (soluble)"
                     /codon_start=1
                     /product="serine hydroxymethyltransferase, cytosolic
                     isoform 1"
                     /protein_id="NP_004160.3"
                     /db_xref="CCDS:CCDS11196.1"
                     /db_xref="GeneID:6470"
                     /db_xref="HGNC:HGNC:10850"
                     /db_xref="MIM:182144"
                     /translation="MTMPVNGAHKDADLWSSHDKMLAQPLKDSDVEVYNIIKKESNRQ
                     RVGLELIASENFASRAVLEALGSCLNNKYSEGYPGQRYYGGTEFIDELETLCQKRALQ
                     AYKLDPQCWGVNVQPYSGSPANFAVYTALVEPHGRIMGLDLPDGGHLTHGFMTDKKKI
                     SATSIFFESMPYKVNPDTGYINYDQLEENARLFHPKLIIAGTSCYSRNLEYARLRKIA
                     DENGAYLMADMAHISGLVAAGVVPSPFEHCHVVTTTTHKTLRGCRAGMIFYRKGVKSV
                     DPKTGKEILYNLESLINSAVFPGLQGGPHNHAIAGVAVALKQAMTLEFKVYQHQVVAN
                     CRALSEALTELGYKIVTGGSDNHLILVDLRSKGTDGGRAEKVLEACSIACNKNTCPGD
                     RSALRPSGLRLGTPALTSRGLLEKDFQKVAHFIHRGIELTLQIQSDTGVRATLKEFKE
                     RLAGDKYQAAVQALREEVESFASLFPLPGLPDF"
     exon            295..440
                     /gene="SHMT1"
                     /gene_synonym="CSHMT; SHMT"
                     /inference="alignment:Splign:2.1.0"
     exon            441..556
                     /gene="SHMT1"
                     /gene_synonym="CSHMT; SHMT"
                     /inference="alignment:Splign:2.1.0"
     exon            557..717
                     /gene="SHMT1"
                     /gene_synonym="CSHMT; SHMT"
                     /inference="alignment:Splign:2.1.0"
     exon            718..799
                     /gene="SHMT1"
                     /gene_synonym="CSHMT; SHMT"
                     /inference="alignment:Splign:2.1.0"
     exon            800..1012
                     /gene="SHMT1"
                     /gene_synonym="CSHMT; SHMT"
                     /inference="alignment:Splign:2.1.0"
     exon            1013..1129
                     /gene="SHMT1"
                     /gene_synonym="CSHMT; SHMT"
                     /inference="alignment:Splign:2.1.0"
     exon            1130..1252
                     /gene="SHMT1"
                     /gene_synonym="CSHMT; SHMT"
                     /inference="alignment:Splign:2.1.0"
     exon            1253..1369
                     /gene="SHMT1"
                     /gene_synonym="CSHMT; SHMT"
                     /inference="alignment:Splign:2.1.0"
     exon            1370..1480
                     /gene="SHMT1"
                     /gene_synonym="CSHMT; SHMT"
                     /inference="alignment:Splign:2.1.0"
     exon            1481..2527
                     /gene="SHMT1"
                     /gene_synonym="CSHMT; SHMT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1856..1861
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SHMT1"
                     /gene_synonym="CSHMT; SHMT"
                     /note="hexamer: ATTAAA"
     polyA_site      1876
                     /gene="SHMT1"
                     /gene_synonym="CSHMT; SHMT"
                     /note="major polyA site"
     regulatory      1912..1917
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SHMT1"
                     /gene_synonym="CSHMT; SHMT"
                     /note="hexamer: AATAAA"
     polyA_site      1931
                     /gene="SHMT1"
                     /gene_synonym="CSHMT; SHMT"
                     /note="major polyA site"
     regulatory      2504..2509
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SHMT1"
                     /gene_synonym="CSHMT; SHMT"
                     /note="hexamer: AATAAA"
     polyA_site      2527
                     /gene="SHMT1"
                     /gene_synonym="CSHMT; SHMT"
                     /note="major polyA site"
ORIGIN      
        1 aagcccaagc ctggcgcgca gagtgcacct tcctgagctc gagcggtcca gcgccaagtt
       61 cggggtttgg ggttggagcg gctggtcacg tggctggccc gcggcggtgc gcggggcgtt
      121 gggtcagcgg gtctgggact ggtggcaccg gcggcggcgt aggacggagg cgtcgctagg
      181 cagcttcgaa ccagtgcaat gacgatgcca gtcaacgggg cccacaagga tgctgacctg
      241 tggtcctcac atgacaagat gctggcacaa cccctcaaag acagtgatgt tgaggtttac
      301 aacatcatta agaaggagag taaccggcag agggttggat tggagctgat tgcctcggag
      361 aatttcgcca gccgagcagt tttggaggcc ctaggctctt gcttaaataa caaatactct
      421 gaggggtacc cgggccagag atactatggc gggactgagt ttattgatga actggagacc
      481 ctctgtcaga agcgagccct gcaggcctat aagctggacc cacagtgctg gggggtcaac
      541 gtccagccct actcaggctc ccctgcaaac tttgctgtgt acactgccct ggtggaaccc
      601 catgggcgca tcatgggcct ggaccttccg gatgggggcc acctgaccca tgggttcatg
      661 acagacaaga agaaaatctc tgccacgtcc atcttctttg aatctatgcc ctacaaggtg
      721 aacccagata ctggctacat caactatgac cagctggagg agaacgcacg cctcttccac
      781 ccgaagctga tcatcgcagg aaccagctgc tactcccgaa acctggaata tgcccggcta
      841 cggaagattg cagatgagaa cggggcgtat ctcatggcgg acatggctca catcagcggg
      901 ctggtggcgg ctggcgtggt gccctcccca tttgaacact gccatgtggt gaccaccacc
      961 actcacaaga ccctgcgagg ctgccgagct ggcatgatct tctacaggaa aggagtgaaa
     1021 agtgtggatc ccaagactgg caaagagatt ctgtacaacc tggagtctct tatcaattct
     1081 gctgtgttcc ctggcctgca gggaggtccc cacaaccacg ccattgctgg ggttgctgtg
     1141 gcactgaagc aagctatgac tctggaattt aaagtttatc aacaccaggt ggtggccaac
     1201 tgcagggctc tgtctgaggc cctgacggag ctgggctaca aaatagtcac aggtggttct
     1261 gacaaccatt tgatccttgt ggatctccgt tccaaaggca cagatggtgg aagggctgag
     1321 aaggtgctag aagcctgttc tattgcctgc aacaagaaca cctgtccagg tgacagaagc
     1381 gctctgcggc ccagtggact gcggctgggg accccagcac tgacgtcccg tggacttttg
     1441 gaaaaagact tccaaaaagt agcccacttt attcacagag ggatagagct gaccctgcag
     1501 atccagagcg acactggtgt cagagccacc ctgaaagagt tcaaggagag actggcaggg
     1561 gataagtacc aggcggccgt gcaggctctc cgggaggagg ttgagagctt cgcctctctc
     1621 ttccctctgc ctggcctgcc tgacttctaa aggagcgggc ccactctgga cccacctggc
     1681 gccacagagg aagctgcctg ccggaggacc cccacctgag agatggatga gctgctccaa
     1741 aggggaactg ttgacactcg ggccctttga gggggtttct tttggacttt tttcatgttt
     1801 tcttcacaaa tcaaaatttg tttaagtctc attgttagta attctgggac aggttattaa
     1861 aggatttaaa tttgaacctg gctttctcac agctggacat aattctagga aaataaaata
     1921 ctatgtcgcc acttggtcat aatcatttag atggtggtgt agggcaaagc tgttagaaag
     1981 attgtagcgt tttactctcc ctgggctttc ctccgccttg ctgcaacaga gaggaaatgc
     2041 ccatgtccac agcttgtaca cactgccccc tcactatctt gttatccagt ggcatgccaa
     2101 aggagaactg aattagcttc tgaggcttct gctgtaaatc agaagtgtat gttagtcaag
     2161 agtaaacaag atgcacccag tatggtggga gggttttgct gtcagtagct caaagtatgg
     2221 tgtagaaatg gcctcctccc tccatcctgg gaagtcccag tcccatcctg gtgtgagaat
     2281 caaccaggct ttcctgctcc acctgagata accaactccc tcccgtaatc aggaagccaa
     2341 atgtcacctt cccaaagaaa ttttattttc acgtagctga agtgcaaaac atagatgacc
     2401 atttttaata agcacaatca aatttttaac cacagaatgt ctacaagaat tatagcttta
     2461 aaaaatacaa ccaattttta tatttcaaaa atatttgaac tcaaataaat taatttctta
     2521 aaaagta
//
