LOCUS       NM_000481               1997 bp    mRNA    linear   PRI 08-FEB-2025
DEFINITION  Homo sapiens aminomethyltransferase (AMT), transcript variant 1,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000481
VERSION     NM_000481.4
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 1997)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 1997)
  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   3  (bases 1 to 1997)
  AUTHORS   Coughlin,C.R. 2nd, Swanson,M.A., Kronquist,K., Acquaviva,C.,
            Hutchin,T., Rodriguez-Pombo,P., Vaisanen,M.L., Spector,E.,
            Creadon-Swindell,G., Bras-Goldberg,A.M., Rahikkala,E.,
            Moilanen,J.S., Mahieu,V., Matthijs,G., Bravo-Alonso,I.,
            Perez-Cerda,C., Ugarte,M., Vianey-Saban,C., Scharer,G.H. and Van
            Hove,J.L.
  TITLE     The genetic basis of classic nonketotic hyperglycinemia due to
            mutations in GLDC and AMT
  JOURNAL   Genet Med 19 (1), 104-111 (2017)
   PUBMED   27362913
  REMARK    GeneRIF: The position and frequency of the breakpoint for CNVs
            correlated with intron size and presence of Alu elements. Missense
            mutations, most often recurring, were the most common type of
            disease-causing mutation in AMT
            Erratum:[Genet Med. 2018 Sep;20(9):1098. doi:
            10.1038/gim.2017.232.. PMID: 29300369]
REFERENCE   4  (bases 1 to 1997)
  AUTHORS   Kure,S., Mandel,H., Rolland,M.O., Sakata,Y., Shinka,T., Drugan,A.,
            Boneh,A., Tada,K., Matsubara,Y. and Narisawa,K.
  TITLE     A missense mutation (His42Arg) in the T-protein gene from a large
            Israeli-Arab kindred with nonketotic hyperglycinemia
  JOURNAL   Hum Genet 102 (4), 430-434 (1998)
   PUBMED   9600239
REFERENCE   5  (bases 1 to 1997)
  AUTHORS   Nanao,K., Okamura-Ikeda,K., Motokawa,Y., Danks,D.M.,
            Baumgartner,E.R., Takada,G. and Hayasaka,K.
  TITLE     Identification of the mutations in the T-protein gene causing
            typical and atypical nonketotic hyperglycinemia
  JOURNAL   Hum Genet 93 (6), 655-658 (1994)
   PUBMED   8005589
REFERENCE   6  (bases 1 to 1997)
  AUTHORS   Nanao,K., Takada,G., Takahashi,E., Seki,N., Komatsu,Y.,
            Okamura-Ikeda,K., Motokawa,Y. and Hayasaka,K.
  TITLE     Structure and chromosomal localization of the
            aminomethyltransferase gene (AMT)
  JOURNAL   Genomics 19 (1), 27-30 (1994)
   PUBMED   8188235
  REMARK    Erratum:[Genomics 1994 Apr;20(3):519]
REFERENCE   7  (bases 1 to 1997)
  AUTHORS   Hayasaka,K., Nanao,K., Takada,G., Okamura-Ikeda,K. and Motokawa,Y.
  TITLE     Isolation and sequence determination of cDNA encoding human
            T-protein of the glycine cleavage system
  JOURNAL   Biochem Biophys Res Commun 192 (2), 766-771 (1993)
   PUBMED   7916605
REFERENCE   8  (bases 1 to 1997)
  AUTHORS   Van Hove,J.L.K., Coughlin,C. II, Swanson,M. and Hennermann,J.B.
  TITLE     Nonketotic Hyperglycinemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301531
REFERENCE   9  (bases 1 to 1997)
  AUTHORS   Kume,A., Koyata,H., Sakakibara,T., Ishiguro,Y., Kure,S. and
            Hiraga,K.
  TITLE     The glycine cleavage system. Molecular cloning of the chicken and
            human glycine decarboxylase cDNAs and some characteristics involved
            in the deduced protein structures
  JOURNAL   J Biol Chem 266 (5), 3323-3329 (1991)
   PUBMED   1993704
REFERENCE   10 (bases 1 to 1997)
  AUTHORS   Hiraga,K., Kochi,H., Hayasaka,K., Kikuchi,G. and Nyhan,W.L.
  TITLE     Defective glycine cleavage system in nonketotic hyperglycinemia.
            Occurrence of a less active glycine decarboxylase and an abnormal
            aminomethyl carrier protein
  JOURNAL   J Clin Invest 68 (2), 525-534 (1981)
   PUBMED   6790577
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D13811.1 and GD148179.1.
            
            On Aug 31, 2019 this sequence version replaced NM_000481.3.
            
            Summary: This gene encodes one of four critical components of the
            glycine cleavage system. Mutations in this gene have been
            associated with glycine encephalopathy. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Sep 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest protein (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 :: D13811.1, BC094771.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000273588.9/
                                                  ENSP00000273588.3
            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
            1-1996              D13811.1           107-2102
            1997-1997           GD148179.1         161-161
FEATURES             Location/Qualifiers
     source          1..1997
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..1997
                     /gene="AMT"
                     /gene_synonym="GCE; GCE2; GCST; GCVT; NKH"
                     /note="aminomethyltransferase"
                     /db_xref="GeneID:275"
                     /db_xref="HGNC:HGNC:473"
                     /db_xref="MIM:238310"
     exon            1..113
                     /gene="AMT"
                     /gene_synonym="GCE; GCE2; GCST; GCVT; NKH"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..1235
                     /gene="AMT"
                     /gene_synonym="GCE; GCE2; GCST; GCVT; NKH"
                     /EC_number="2.1.2.10"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; aminomethyltransferase, mitochondrial; glycine
                     cleavage system T protein; nonketotic hyperglycinemia"
                     /codon_start=1
                     /product="aminomethyltransferase, mitochondrial isoform 1
                     precursor"
                     /protein_id="NP_000472.2"
                     /db_xref="CCDS:CCDS2797.1"
                     /db_xref="GeneID:275"
                     /db_xref="HGNC:HGNC:473"
                     /db_xref="MIM:238310"
                     /translation="MQRAVSVVARLGFRLQAFPPALCRPLSCAQEVLRRTPLYDFHLA
                     HGGKMVAFAGWSLPVQYRDSHTDSHLHTRQHCSLFDVSHMLQTKILGSDRVKLMESLV
                     VGDIAELRPNQGTLSLFTNEAGGILDDLIVTNTSEGHLYVVSNAGCWEKDLALMQDKV
                     RELQNQGRDVGLEVLDNALLALQGPTAAQVLQAGVADDLRKLPFMTSAVMEVFGVSGC
                     RVTRCGYTGEDGVEISVPVAGAVHLATAILKNPEVKLAGLAARDSLRLEAGLCLYGND
                     IDEHTTPVEGSLSWTLGKRRRAAMDFPGAKVIVPQLKGRVQRRRVGLMCEGAPMRAHS
                     PILNMEGTKIGTVTSGCPSPSLKKNVAMGYVPCEYSRPGTMLLVEVRRKQQMAVVSKM
                     PFVPTNYYTLK"
     exon            114..281
                     /gene="AMT"
                     /gene_synonym="GCE; GCE2; GCST; GCVT; NKH"
                     /inference="alignment:Splign:2.1.0"
     exon            282..362
                     /gene="AMT"
                     /gene_synonym="GCE; GCE2; GCST; GCVT; NKH"
                     /inference="alignment:Splign:2.1.0"
     exon            363..494
                     /gene="AMT"
                     /gene_synonym="GCE; GCE2; GCST; GCVT; NKH"
                     /inference="alignment:Splign:2.1.0"
     exon            495..573
                     /gene="AMT"
                     /gene_synonym="GCE; GCE2; GCST; GCVT; NKH"
                     /inference="alignment:Splign:2.1.0"
     exon            574..719
                     /gene="AMT"
                     /gene_synonym="GCE; GCE2; GCST; GCVT; NKH"
                     /inference="alignment:Splign:2.1.0"
     exon            720..900
                     /gene="AMT"
                     /gene_synonym="GCE; GCE2; GCST; GCVT; NKH"
                     /inference="alignment:Splign:2.1.0"
     exon            901..1056
                     /gene="AMT"
                     /gene_synonym="GCE; GCE2; GCST; GCVT; NKH"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..1997
                     /gene="AMT"
                     /gene_synonym="GCE; GCE2; GCST; GCVT; NKH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1974..1979
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMT"
                     /gene_synonym="GCE; GCE2; GCST; GCVT; NKH"
                     /note="hexamer: ATTAAA"
     polyA_site      1997
                     /gene="AMT"
                     /gene_synonym="GCE; GCE2; GCST; GCVT; NKH"
                     /note="major polyA site"
ORIGIN      
        1 gtctgcactc gttgcaggcg acgatgcaga gggctgtaag tgtggtggcc cgtctgggct
       61 ttcgcctgca ggcattcccc ccggccttgt gtcgtccact tagttgcgca caggaggtgc
      121 tccgcaggac accgctctat gacttccacc tggcccacgg cgggaaaatg gtggcgtttg
      181 cgggttggag tctgccagtg cagtaccggg acagtcacac tgactcgcac ctgcacacac
      241 gccagcactg ctcgctcttt gacgtgtctc atatgctgca gaccaagata cttggtagtg
      301 accgggtgaa gctgatggag agtctagtgg ttggagacat tgcagagcta agaccaaacc
      361 aggggacact gtcgctgttt accaacgagg ctggaggcat cttagatgac ttgattgtaa
      421 ccaatacttc tgagggccac ctgtatgtgg tgtccaacgc tggctgctgg gagaaagatt
      481 tggccctcat gcaggacaag gtcagggagc ttcagaacca gggcagagat gtgggcctgg
      541 aggtgttgga taatgccctg ctagctctgc aaggccccac tgcagcccag gtactacagg
      601 ccggcgtggc agatgacctg aggaaactgc ccttcatgac cagtgctgtg atggaggtgt
      661 ttggcgtgtc tggctgccgc gtgacccgct gtggctacac aggagaggat ggtgtggaga
      721 tctcggtgcc ggtagcgggg gcagttcacc tggcaacagc tattctgaaa aacccagagg
      781 tgaagctggc agggctggca gccagggaca gcctgcgcct ggaggcaggc ctctgcctgt
      841 atgggaatga cattgatgaa cacactacac ctgtggaggg cagcctcagt tggacactgg
      901 ggaagcgccg ccgagctgct atggacttcc ctggagccaa ggtcattgtt ccccagctga
      961 agggcagggt gcagcggagg cgtgtggggt tgatgtgtga gggggccccc atgcgggcac
     1021 acagtcccat cctgaacatg gagggtacca agattggtac tgtgactagt ggctgcccct
     1081 ccccctctct gaagaagaat gtggcgatgg gttatgtgcc ctgcgagtac agtcgtccag
     1141 ggacaatgct gctggtagag gtgcggcgga agcagcagat ggctgtagtc agcaagatgc
     1201 cctttgtgcc cacaaactac tataccctca agtgaagctg gctcagggtg gggctgtccc
     1261 ttccaggagt tttgccccta caaggggtta gtcaagaagc tgaggcagaa ctcactgggg
     1321 gtgggcagtt aaggtggagg ctgattctaa ttgtctggtt gaggggccac accacctatt
     1381 ccccccacct aactcatgcc attccagctt ccttcaggac cctgcttctg agtgacggac
     1441 cagctcacac aatgtcttgt ttcagtccat gatcccactg acctactctt gcctgctgga
     1501 gggtaatgag aagctttggt tctgccatct ctcccactct gccaggtgct ggctgtggag
     1561 caaaggctca cctttgtgga gaggataaaa cctgcccaac ctacctcacc atggtttttc
     1621 acattgcaaa gggtaataac atgggcagtg cggacttagg ctaccccctc cagtttgctt
     1681 tccgtaaatg caaattgtcc ttactgcaag tcaggaatga ttgctgactc acagtagggc
     1741 tgctatgcct gtgtgtaaac ttggggatgg ctgagggaac atagactcac tcttccacat
     1801 tcccaagttg gtctagtgtg ctgcccagta gcaaaccatg gcagactcac cacctattct
     1861 gagttccagg gctgctgtag ggcagggtgg gcttcctccc agacttgcct taccctgggc
     1921 tgatctttgc ccctggtatg cattaatgga ctccactgaa tcctgaaaaa aaaattaaac
     1981 ttccttctta cttgcca
//
