LOCUS       NM_018960               1076 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens glycine N-methyltransferase (GNMT), transcript variant
            1, mRNA.
ACCESSION   NM_018960
VERSION     NM_018960.6
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 1076)
  AUTHORS   Kishi,S., Mori,S., Fujiwara-Tani,R., Ogata,R., Sasaki,R.,
            Ikemoto,A., Goto,K., Sasaki,T., Miyake,M., Sasagawa,S.,
            Kawaichi,M., Luo,Y., Bhawal,U.K., Fujimoto,K., Nakagawa,H. and
            Kuniyasu,H.
  TITLE     ERVK13-1/miR-873-5p/GNMT Axis Promotes Metastatic Potential in
            Human Bladder Cancer though Sarcosine Production
  JOURNAL   Int J Mol Sci 24 (22), 16367 (2023)
   PUBMED   38003554
  REMARK    GeneRIF: ERVK13-1/miR-873-5p/GNMT Axis Promotes Metastatic
            Potential in Human Bladder Cancer though Sarcosine Production.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1076)
  AUTHORS   Kuo,K.L., Chiang,C.W., Chen,Y.A., Yu,C.C. and Lee,T.S.
  TITLE     Folic Acid Ameliorates Renal Injury in Experimental Obstructive
            Nephropathy: Role of Glycine N-Methyltransferase
  JOURNAL   Int J Mol Sci 24 (7), 6859 (2023)
   PUBMED   37047834
  REMARK    GeneRIF: Folic Acid Ameliorates Renal Injury in Experimental
            Obstructive Nephropathy: Role of Glycine N-Methyltransferase.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1076)
  AUTHORS   Oh,S., Jo,S., Kim,H.S., Mai,V.H., Endaya,B., Neuzil,J., Jung,K.H.,
            Hong,S.S., Kim,J.M. and Park,S.
  TITLE     Chemical Biopsy for GNMT as Noninvasive and Tumorigenesis-Relevant
            Diagnosis of Liver Cancer
  JOURNAL   Anal Chem 95 (2), 1184-1192 (2023)
   PUBMED   36602057
  REMARK    GeneRIF: Chemical Biopsy for GNMT as Noninvasive and
            Tumorigenesis-Relevant Diagnosis of Liver Cancer.
REFERENCE   4  (bases 1 to 1076)
  AUTHORS   Chen,P.M., Tsai,C.H., Huang,C.C., Hwang,H.H., Li,J.R., Liu,C.C.,
            Ko,H.A. and Chiang,E.I.
  TITLE     Downregulation of Methionine Cycle Genes MAT1A and GNMT Enriches
            Protein-Associated Translation Process and Worsens Hepatocellular
            Carcinoma Prognosis
  JOURNAL   Int J Mol Sci 23 (1), 481 (2022)
   PUBMED   35008908
  REMARK    GeneRIF: Downregulation of Methionine Cycle Genes MAT1A and GNMT
            Enriches Protein-Associated Translation Process and Worsens
            Hepatocellular Carcinoma Prognosis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1076)
  AUTHORS   Lee,C.M., Shih,Y.P., Wu,C.H. and Chen,Y.M.
  TITLE     Characterization of the 5' regulatory region of the human Glycine
            N-methyltransferase gene
  JOURNAL   Gene 443 (1-2), 151-157 (2009)
   PUBMED   19439180
  REMARK    GeneRIF: Study identified a GNMT transcriptional start site at the
            14th position upstream of the ATG codon; results indicate binding
            of the nuclear factor-Y (NF-Y) transcription factor to the CCAAT
            box (-71/-67) of the GNMT gene.
REFERENCE   6  (bases 1 to 1076)
  AUTHORS   Chen,Y.M., Chen,L.Y., Wong,F.H., Lee,C.M., Chang,T.J. and
            Yang-Feng,T.L.
  TITLE     Genomic structure, expression, and chromosomal localization of the
            human glycine N-methyltransferase gene
  JOURNAL   Genomics 66 (1), 43-47 (2000)
   PUBMED   10843803
REFERENCE   7  (bases 1 to 1076)
  AUTHORS   Chen,Y.M., Shiu,J.Y., Tzeng,S.J., Shih,L.S., Chen,Y.J., Lui,W.Y.
            and Chen,P.H.
  TITLE     Characterization of glycine-N-methyltransferase-gene expression in
            human hepatocellular carcinoma
  JOURNAL   Int J Cancer 75 (5), 787-793 (1998)
   PUBMED   9495250
REFERENCE   8  (bases 1 to 1076)
  AUTHORS   Ogawa,H., Gomi,T. and Fujioka,M.
  TITLE     Mammalian glycine N-methyltransferases. Comparative kinetic and
            structural properties of the enzymes from human, rat, rabbit and
            pig livers
  JOURNAL   Comp Biochem Physiol B 106 (3), 601-611 (1993)
   PUBMED   8281755
REFERENCE   9  (bases 1 to 1076)
  AUTHORS   Wagner,C., Decha-Umphai,W. and Corbin,J.
  TITLE     Phosphorylation modulates the activity of glycine
            N-methyltransferase, a folate binding protein. In vitro
            phosphorylation is inhibited by the natural folate ligand
  JOURNAL   J Biol Chem 264 (16), 9638-9642 (1989)
   PUBMED   2722853
REFERENCE   10 (bases 1 to 1076)
  AUTHORS   Mudd,S.H., Ebert,M.H. and Scriver,C.R.
  TITLE     Labile methyl group balances in the human: the role of sarcosine
  JOURNAL   Metabolism 29 (8), 707-720 (1980)
   PUBMED   6157075
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY010451.1 and BC032627.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_018960.5.
            
            Summary: The protein encoded by this gene is an enzyme that
            catalyzes the conversion of S-adenosyl-L-methionine (along with
            glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein
            is found in the cytoplasm and acts as a homotetramer. Defects in
            this gene are a cause of GNMT deficiency (hypermethioninemia).
            Alternative splicing results in multiple transcript variants.
            Naturally occurring readthrough transcription occurs between the
            upstream CNPY3 (canopy FGF signaling regulator 3) gene and this
            gene and is represented with GeneID:107080644. [provided by RefSeq,
            Jan 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer 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 :: BC032627.1, FJ224320.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372808.4/ ENSP00000361894.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 HY010451.1         2-9
            9-1076              BC032627.1         1-1068
FEATURES             Location/Qualifiers
     source          1..1076
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..1076
                     /gene="GNMT"
                     /gene_synonym="HEL-S-182mP"
                     /note="glycine N-methyltransferase"
                     /db_xref="GeneID:27232"
                     /db_xref="HGNC:HGNC:4415"
                     /db_xref="MIM:606628"
     exon            1..220
                     /gene="GNMT"
                     /gene_synonym="HEL-S-182mP"
                     /inference="alignment:Splign:2.1.0"
     CDS             15..902
                     /gene="GNMT"
                     /gene_synonym="HEL-S-182mP"
                     /EC_number="2.1.1.20"
                     /note="isoform 1 is encoded by transcript variant 1;
                     epididymis secretory sperm binding protein Li 182mP"
                     /codon_start=1
                     /product="glycine N-methyltransferase isoform 1"
                     /protein_id="NP_061833.1"
                     /db_xref="CCDS:CCDS4876.1"
                     /db_xref="GeneID:27232"
                     /db_xref="HGNC:HGNC:4415"
                     /db_xref="MIM:606628"
                     /translation="MVDSVYRTRSLGVAAEGLPDQYADGEAARVWQLYIGDTRSRTAE
                     YKAWLLGLLRQHGCQRVLDVACGTGVDSIMLVEEGFSVTSVDASDKMLKYALKERWNR
                     RHEPAFDKWVIEEANWMTLDKDVPQSAEGGFDAVICLGNSFAHLPDCKGDQSEHRLAL
                     KNIASMVRAGGLLVIDHRNYDHILSTGCAPPGKNIYYKSDLTKDVTTSVLIVNNKAHM
                     VTLDYTVQVPGAGQDGSPGLSKFRLSYYPHCLASFTELLQAAFGGKCQHSVLGDFKPY
                     KPGQTYIPCYFIHVLKRTD"
     exon            221..348
                     /gene="GNMT"
                     /gene_synonym="HEL-S-182mP"
                     /inference="alignment:Splign:2.1.0"
     exon            349..465
                     /gene="GNMT"
                     /gene_synonym="HEL-S-182mP"
                     /inference="alignment:Splign:2.1.0"
     exon            466..608
                     /gene="GNMT"
                     /gene_synonym="HEL-S-182mP"
                     /inference="alignment:Splign:2.1.0"
     exon            609..730
                     /gene="GNMT"
                     /gene_synonym="HEL-S-182mP"
                     /inference="alignment:Splign:2.1.0"
     exon            731..1076
                     /gene="GNMT"
                     /gene_synonym="HEL-S-182mP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1052..1057
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNMT"
                     /gene_synonym="HEL-S-182mP"
                     /note="hexamer: AATATA"
     polyA_site      1076
                     /gene="GNMT"
                     /gene_synonym="HEL-S-182mP"
                     /note="major polyA site"
ORIGIN      
        1 aggcgcggcg caggatggtg gacagcgtgt accggacccg ctccctgggg gtggcggccg
       61 aagggctccc ggaccagtac gcggacgggg aggcggcgcg cgtgtggcag ctgtatatcg
      121 gagacacccg cagccgcacc gccgagtaca aggcatggct gcttgggctg ctgcgccagc
      181 acggctgcca gcgggtgctc gacgtagcct gtggcactgg ggtggactcc attatgctgg
      241 tggaagaggg cttcagtgtg acgagtgtgg atgccagtga caagatgctg aagtatgcac
      301 ttaaggagcg ctggaaccgg cggcacgagc ccgccttcga caagtgggtc atcgaagaag
      361 ccaactggat gactctggac aaagatgtgc cccagtcagc agagggtggc tttgatgctg
      421 tcatctgcct tggaaacagt ttcgctcact tgccagactg caaaggggac cagagtgagc
      481 accggctggc gctgaaaaac attgcgagca tggtgcgggc agggggccta ctggtcattg
      541 atcatcgcaa ctacgaccac atcctcagta caggctgtgc acccccaggg aagaacatct
      601 actataagag tgacttgacc aaggacgtca caacatcagt gctgatagtg aacaacaagg
      661 cccacatggt gaccctggac tatacggtgc aggtgccggg ggctggccag gatggctctc
      721 ctggcttgag taagttccgg ctctcctact acccacactg tctggcatcc ttcacggagc
      781 tgctccaagc agccttcgga ggtaagtgcc agcacagcgt cctgggcgac ttcaagcctt
      841 acaagccagg ccaaacctac attccctgct acttcatcca cgtgctcaag aggacagact
      901 gagtgtggcc tcagctccca caagcctctg cccaggcact gctaggctct gtctggaaga
      961 tggggaccag cagccccaca ccagggccag cctctagagc agactacagc tggggtgcag
     1021 ggatgtgggt tccacagacg gaagggtaaa caatatagtc tttttcagtt cctgca
//
