LOCUS       NM_000156               1110 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens guanidinoacetate N-methyltransferase (GAMT),
            transcript variant 1, mRNA.
ACCESSION   NM_000156
VERSION     NM_000156.6
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 1110)
  AUTHORS   Goldstein,J., Thomas-Wilson,A., Groopman,E., Aggarwal,V.,
            Bianconi,S., Fernandez,R., Hart,K., Longo,N., Liang,N., Reich,D.,
            Wallis,H., Weaver,M., Young,S. and Mercimek-Andrews,S.
  TITLE     ClinGen variant curation expert panel recommendations for
            classification of variants in GAMT, GATM and SLC6A8 for cerebral
            creatine deficiency syndromes
  JOURNAL   Mol Genet Metab 142 (1), 108362 (2024)
   PUBMED   38452609
  REMARK    GeneRIF: ClinGen variant curation expert panel recommendations for
            classification of variants in GAMT, GATM and SLC6A8 for cerebral
            creatine deficiency syndromes.
REFERENCE   2  (bases 1 to 1110)
  AUTHORS   Shen,M., Yang,G., Chen,Z., Yang,K., Dong,H., Yin,C., Cheng,Y.,
            Zhang,C., Gu,F., Yang,Y. and Tian,Y.
  TITLE     Identification of novel variations in SLC6A8 and GAMT genes causing
            cerebral creatine deficiency syndrome
  JOURNAL   Clin Chim Acta 532, 29-36 (2022)
   PUBMED   35588794
  REMARK    GeneRIF: Identification of novel variations in SLC6A8 and GAMT
            genes causing cerebral creatine deficiency syndrome.
REFERENCE   3  (bases 1 to 1110)
  AUTHORS   Gong,C., Zhou,M., Hu,Y., Ren,Z., Ren,J. and Yao,M.
  TITLE     Elastic net-based identification of GAMT as potential diagnostic
            marker for early-stage gastric cancer
  JOURNAL   Biochem Biophys Res Commun 591, 7-12 (2022)
   PUBMED   34990904
  REMARK    GeneRIF: Elastic net-based identification of GAMT as potential
            diagnostic marker for early-stage gastric cancer.
REFERENCE   4  (bases 1 to 1110)
  AUTHORS   Desroches,C.L., Patel,J., Wang,P., Minassian,B., Marshall,C.R.,
            Salomons,G.S. and Mercimek-Mahmutoglu,S.
  TITLE     Carrier frequency of guanidinoacetate methyltransferase deficiency
            in the general population by functional characterization of
            missense variants in the GAMT gene
  JOURNAL   Mol Genet Genomics 290 (6), 2163-2171 (2015)
   PUBMED   26003046
  REMARK    GeneRIF: As early diagnosis results in normal neurodevelopmental
            outcome, GAMT deficiency should be included in newborn screening
            programs to diagnose individuals at the asymptomatic stage of the
            disease
REFERENCE   5  (bases 1 to 1110)
  AUTHORS   Chae,Y.J., Chung,C.E., Kim,B.J., Lee,M.H. and Lee,H.
  TITLE     The gene encoding guanidinoacetate methyltransferase (GAMT) maps to
            human chromosome 19 at band p13.3 and to mouse chromosome 10
  JOURNAL   Genomics 49 (1), 162-164 (1998)
   PUBMED   9570966
REFERENCE   6  (bases 1 to 1110)
  AUTHORS   Polyak,K., Xia,Y., Zweier,J.L., Kinzler,K.W. and Vogelstein,B.
  TITLE     A model for p53-induced apoptosis
  JOURNAL   Nature 389 (6648), 300-305 (1997)
   PUBMED   9305847
REFERENCE   7  (bases 1 to 1110)
  AUTHORS   Stockler,S., Isbrandt,D., Hanefeld,F., Schmidt,B. and von Figura,K.
  TITLE     Guanidinoacetate methyltransferase deficiency: the first inborn
            error of creatine metabolism in man
  JOURNAL   Am J Hum Genet 58 (5), 914-922 (1996)
   PUBMED   8651275
REFERENCE   8  (bases 1 to 1110)
  AUTHORS   Isbrandt,D. and von Figura,K.
  TITLE     Cloning and sequence analysis of human guanidinoacetate
            N-methyltransferase cDNA
  JOURNAL   Biochim Biophys Acta 1264 (3), 265-267 (1995)
   PUBMED   8547310
REFERENCE   9  (bases 1 to 1110)
  AUTHORS   Mercimek-Andrews,S. and Salomons,G.S.
  TITLE     Creatine Deficiency Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301745
REFERENCE   10 (bases 1 to 1110)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005329.1 and BC016760.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_000156.5.
            
            Summary: The protein encoded by this gene is a methyltransferase
            that converts guanidoacetate to creatine, using
            S-adenosylmethionine as the methyl donor. Defects in this gene have
            been implicated in neurologic syndromes and muscular hypotonia,
            probably due to creatine deficiency and accumulation of
            guanidinoacetate in the brain of affected individuals. Two
            transcript variants encoding different isoforms have been described
            for this gene. Pseudogenes of this gene are found on chromosomes 2
            and 13. [provided by RefSeq, Feb 2012].
            
            Transcript Variant: This variant (1) is the longer transcript but
            encodes the shorter isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: DRR138522.687271.1,
                                           DRR138524.802058.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252288.8/ ENSP00000252288.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                AC005329.1         25127-25151         c
            26-1043             BC016760.2         1-1018
            1044-1110           AC005329.1         20635-20701         c
FEATURES             Location/Qualifiers
     source          1..1110
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..1110
                     /gene="GAMT"
                     /gene_synonym="CCDS2; HEL-S-20; PIG2; TP53I2"
                     /note="guanidinoacetate N-methyltransferase"
                     /db_xref="GeneID:2593"
                     /db_xref="HGNC:HGNC:4136"
                     /db_xref="MIM:601240"
     exon            1..247
                     /gene="GAMT"
                     /gene_synonym="CCDS2; HEL-S-20; PIG2; TP53I2"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..777
                     /gene="GAMT"
                     /gene_synonym="CCDS2; HEL-S-20; PIG2; TP53I2"
                     /EC_number="2.1.1.2"
                     /note="isoform a is encoded by transcript variant 1;
                     epididymis secretory protein Li 20"
                     /codon_start=1
                     /product="guanidinoacetate N-methyltransferase isoform a"
                     /protein_id="NP_000147.1"
                     /db_xref="CCDS:CCDS12064.1"
                     /db_xref="GeneID:2593"
                     /db_xref="HGNC:HGNC:4136"
                     /db_xref="MIM:601240"
                     /translation="MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMER
                     WETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQEAPIDEHWIIECNDGVFQRLRDW
                     APRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLL
                     KPGGVLTYCNLTSWGELMKSKYSDITIMFEETQVPALLEAGFRRENIRTEVMALVPPA
                     DCRYYAFPQMITPLVTKG"
     exon            248..393
                     /gene="GAMT"
                     /gene_synonym="CCDS2; HEL-S-20; PIG2; TP53I2"
                     /inference="alignment:Splign:2.1.0"
     exon            394..457
                     /gene="GAMT"
                     /gene_synonym="CCDS2; HEL-S-20; PIG2; TP53I2"
                     /inference="alignment:Splign:2.1.0"
     exon            458..525
                     /gene="GAMT"
                     /gene_synonym="CCDS2; HEL-S-20; PIG2; TP53I2"
                     /inference="alignment:Splign:2.1.0"
     exon            526..636
                     /gene="GAMT"
                     /gene_synonym="CCDS2; HEL-S-20; PIG2; TP53I2"
                     /inference="alignment:Splign:2.1.0"
     exon            637..1110
                     /gene="GAMT"
                     /gene_synonym="CCDS2; HEL-S-20; PIG2; TP53I2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1010..1015
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GAMT"
                     /gene_synonym="CCDS2; HEL-S-20; PIG2; TP53I2"
                     /note="hexamer: AGTAAA"
     polyA_site      1043
                     /gene="GAMT"
                     /gene_synonym="CCDS2; HEL-S-20; PIG2; TP53I2"
                     /note="major polyA site"
     polyA_site      1061
                     /gene="GAMT"
                     /gene_synonym="CCDS2; HEL-S-20; PIG2; TP53I2"
ORIGIN      
        1 aagcccctgc agggagcggg cccgggcggc gcgcgatcga ggtcgggtcg ccgtccagcc
       61 tgcagcatga gcgcccccag cgcgaccccc atcttcgcgc ccggcgagaa ctgcagcccc
      121 gcgtgggggg cggcgcccgc ggcctacgac gcagcggaca cgcacctgcg catcctgggc
      181 aagccggtga tggagcgctg ggagaccccc tatatgcacg cgctggccgc cgccgcctcc
      241 tccaaagggg gccgggtcct ggaggtgggc tttggcatgg ccatcgcagc gtcaaaggtg
      301 caggaggcgc ccattgatga gcattggatc atcgagtgca atgacggcgt cttccagcgg
      361 ctccgggact gggccccacg gcagacacac aaggtcatcc ccttgaaagg cctgtgggag
      421 gatgtggcac ccaccctgcc tgacggtcac tttgatggga tcctgtacga cacgtaccca
      481 ctctcggagg agacctggca cacacaccag ttcaacttca tcaagaacca cgcctttcgc
      541 ctgctgaagc cggggggcgt cctcacctac tgcaacctca cctcctgggg ggagctgatg
      601 aagtccaagt actcagacat caccatcatg tttgaggaga cgcaggtgcc cgcgctgctg
      661 gaggccggct tccggaggga gaacatccgt acggaggtga tggcgctggt cccaccggcc
      721 gactgccgct actacgcctt cccacagatg atcacgcccc tggtgaccaa aggctgagcc
      781 cccaccccgg cccggccaca cccatgccct cctccgtgcc ttcctggccg ggagtccagg
      841 gtgtcgcacc agccctgggc tgatcccagc tgtgtgtcac cagaagcttt cccggcttct
      901 ctgtgagggg tcccaccagc ccagggctga tcccagctgt gtgtcaccag cagctttccc
      961 agcttctctg tgagggtcac tgctgcccac tgcagggtcc ctgaggtgaa gtaaacgccg
     1021 gcgctgggct tggccagtcg gcagtgagcg tgcgactgtt acttccagcg gctgctccct
     1081 cacctcccgc ccatcccatg gacacaggaa
//
