LOCUS       NM_001321015            2804 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens glycine amidinotransferase (GATM), transcript variant
            2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001321015
VERSION     NM_001321015.2
KEYWORDS    RefSeq.
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 2804)
  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 2804)
  AUTHORS   Tropak,M.B., Tkachyova,I., Gu,R., Lee,A. and Schulze,A.
  TITLE     Evidence of an intracellular creatine-sensing mechanism that
            modulates creatine biosynthesis via AGAT expression in human HAP1
            cells
  JOURNAL   Sci Rep 13 (1), 22392 (2023)
   PUBMED   38104212
  REMARK    GeneRIF: Evidence of an intracellular creatine-sensing mechanism
            that modulates creatine biosynthesis via AGAT expression in human
            HAP1 cells.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2804)
  AUTHORS   Kudo,H., Suzuki,R., Kondo,A., Nozu,K., Nakamura,Y., Mikami,H.,
            Soma,J. and Nakaya,I.
  TITLE     Association of Familial Fanconi Syndrome with a Novel GATM Variant
  JOURNAL   Tohoku J Exp Med 260 (4), 337-340 (2023)
   PUBMED   37286521
  REMARK    GeneRIF: Association of Familial Fanconi Syndrome with a Novel GATM
            Variant.
REFERENCE   4  (bases 1 to 2804)
  AUTHORS   Sinn,M., Stanoppi,M., Hauth,F., Fleming,J.R., Funck,D., Mayans,O.
            and Hartig,J.S.
  TITLE     Guanidino acid hydrolysis by the human enzyme annotated as
            agmatinase
  JOURNAL   Sci Rep 12 (1), 22088 (2022)
   PUBMED   36543883
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2804)
  AUTHORS   Humm,A., Fritsche,E., Mann,K., Gohl,M. and Huber,R.
  TITLE     Recombinant expression and isolation of human L-arginine:glycine
            amidinotransferase and identification of its active-site cysteine
            residue
  JOURNAL   Biochem J 322 (Pt 3) (Pt 3), 771-776 (1997)
   PUBMED   9148748
REFERENCE   6  (bases 1 to 2804)
  AUTHORS   Humm,A., Fritsche,E. and Steinbacher,S.
  TITLE     Structure and reaction mechanism of L-arginine:glycine
            amidinotransferase
  JOURNAL   Biol Chem 378 (3-4), 193-197 (1997)
   PUBMED   9165070
  REMARK    Review article
REFERENCE   7  (bases 1 to 2804)
  AUTHORS   Humm,A., Huber,R. and Mann,K.
  TITLE     The amino acid sequences of human and pig L-arginine:glycine
            amidinotransferase
  JOURNAL   FEBS Lett 339 (1-2), 101-107 (1994)
   PUBMED   8313955
REFERENCE   8  (bases 1 to 2804)
  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   9  (bases 1 to 2804)
  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
REFERENCE   10 (bases 1 to 2804)
  AUTHORS   Gross,M.D., Eggen,M.A., Simon,A.M. and Van Pilsum,J.F.
  TITLE     The purification and characterization of human kidney
            L-arginine:glycine amidinotransferase
  JOURNAL   Arch Biochem Biophys 251 (2), 747-755 (1986)
   PUBMED   3800397
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC039389.1, AC025580.8 and
            AI253042.1.
            
            On May 31, 2019 this sequence version replaced NM_001321015.1.
            
            Summary: This gene encodes a mitochondrial enzyme that belongs to
            the amidinotransferase family. This enzyme is involved in creatine
            biosynthesis, whereby it catalyzes the transfer of a guanido group
            from L-arginine to glycine, resulting in guanidinoacetic acid, the
            immediate precursor of creatine. Mutations in this gene cause
            arginine:glycine amidinotransferase deficiency, an inborn error of
            creatine synthesis characterized by cognitive disability, language
            impairment, and behavioral disorders. [provided by RefSeq, Jul
            2008].
            
            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 :: SRR1803615.96006.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2158188
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-616               BC039389.1         96-711
            617-835             AC025580.8         43091-43309         c
            836-1031            AC025580.8         35816-36011         c
            1032-1222           AC025580.8         34560-34750         c
            1223-1360           AC025580.8         32861-32998         c
            1361-1525           AC025580.8         32536-32700         c
            1526-1589           AC025580.8         31287-31350         c
            1590-1706           AC025580.8         30390-30506         c
            1707-2398           AC025580.8         28020-28711         c
            2399-2804           AI253042.1         19-424              c
FEATURES             Location/Qualifiers
     source          1..2804
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.1"
     gene            1..2804
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /note="glycine amidinotransferase"
                     /db_xref="GeneID:2628"
                     /db_xref="HGNC:HGNC:4175"
                     /db_xref="MIM:602360"
     exon            1..329
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /inference="alignment:Splign:2.1.0"
     exon            330..379
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /inference="alignment:Splign:2.1.0"
     exon            380..540
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /inference="alignment:Splign:2.1.0"
     exon            541..616
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /inference="alignment:Splign:2.1.0"
     exon            617..835
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /inference="alignment:Splign:2.1.0"
     exon            836..1031
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /inference="alignment:Splign:2.1.0"
     CDS             935..1819
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /EC_number="2.1.4.1"
                     /note="isoform 2 is encoded by transcript variant 2;
                     transamidinase; glycine amidinotransferase, mitochondrial;
                     glycine amidinotransferase (L-arginine:glycine
                     amidinotransferase); testicular secretory protein Li 19"
                     /codon_start=1
                     /product="glycine amidinotransferase, mitochondrial
                     isoform 2"
                     /protein_id="NP_001307944.1"
                     /db_xref="GeneID:2628"
                     /db_xref="HGNC:HGNC:4175"
                     /db_xref="MIM:602360"
                     /translation="MCNILKTEGVTVRRPDPIDWSLKYKTPDFESTGLYSAMPRDILI
                     VVGNEIIEAPMAWRSRFFEYRAYRSIIKDYFHRGAKWTTAPKPTMADELYNQDYPIHS
                     VEDRHKLAAQGKFVTTEFEPCFDAADFIRAGRDIFAQRSQVTNYLGIEWMRRHLAPDY
                     RVHIISFKDPNPMHIDATFNIIGPGIVLSNPDRPCHQIDLFKKAGWTIITPPTPIIPD
                     DHPLWMSSKWLSMNVLMLDEKRVMVDANEVPIQKMFEKLGITTIKVNIRNANSLGGGF
                     HCWTCDVRRRGTLQSYLD"
     exon            1032..1222
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1223..1360
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1361..1525
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1526..1589
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1590..1706
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1707..2804
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2779..2784
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /note="hexamer: AATAAA"
     polyA_site      2804
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /note="major polyA site"
ORIGIN      
        1 gctttcgtga aatcgagttg cctaacccag agctttcccg agatggtctt cgttacaggt
       61 gtctgggagg cggcttaagc tcacttcact aggtcattaa gcatgtactt tggtggttac
      121 atatatcttg gaagtcaccg gctttacatt ctgttttcct ggccttcgaa ctggagcatc
      181 agtactaccg ccgttggaat agcaacctag agactttgct attttgtgaa gaaactctaa
      241 ctatccgcat gggcacagaa ttttgggtgc tctggtgcaa atgtctcagg tgacttggcg
      301 taactgagaa tacagccttg ggaccttcgt tctggaggct gggaagtcaa agacaaggca
      361 ctggcagatt ccatgactgg aaaggagaga aggtctctga ggaagtgaca ttccagctga
      421 gacgtgaagg ataagtagaa accaagcaga agaattggaa gaggaaaggg aagagggaaa
      481 agcctgtgcc aatgccctga gattggaata tgctttttgt gtttaagaaa ttaacagaag
      541 gagaagcaca tctctggctg ccctcagtac actaagagaa tcagacctca gaggtggctg
      601 cattttattg ttgggacttg gacgaacctt gacaggatgg gtgcagcgaa ctttccagag
      661 cacccaggca gctacggctt cctcccggaa ctcctgtgca gctgacgaca aagccactga
      721 gcctctgccc aaggactgcc ctgtctcttc ttacaacgaa tgggacccct tagaggaagt
      781 gatagtgggc agagcagaaa acgcctgtgt tccaccgttc accatcgagg tgaaggccaa
      841 cacatatgaa aagtactggc cattttacca gaagcaagga gggcattatt ttcccaaaga
      901 tcatttgaaa aaggctgttg ctgaaattga agaaatgtgc aatattttaa aaacggaagg
      961 agtgacagta aggaggcctg accccattga ctggtcattg aagtataaaa ctcctgattt
     1021 tgagtctacg ggtttataca gtgcaatgcc tcgagacatc ctgatagttg tgggcaatga
     1081 gattatcgag gctcccatgg catggcgttc acgcttcttt gagtaccgag cgtacaggtc
     1141 aattatcaaa gactacttcc accgtggcgc caagtggaca acagctccta agcccacaat
     1201 ggctgatgag ctttataacc aggattatcc catccactct gtagaagaca gacacaaatt
     1261 ggctgctcag ggaaaatttg tgacaactga gtttgagcca tgctttgatg ctgctgactt
     1321 cattcgagct ggaagagata tttttgcaca gagaagccag gttacaaact acctaggcat
     1381 tgaatggatg cgtaggcatc ttgctccaga ctacagagtg catatcatct cctttaaaga
     1441 tcccaatccc atgcatattg atgctacctt caacatcatt ggacctggta ttgtgctttc
     1501 caaccctgac cgaccatgtc accagattga tcttttcaag aaagcaggat ggactatcat
     1561 tactcctcca acaccaatca tcccagacga tcatccactc tggatgtcat ccaaatggct
     1621 ttccatgaat gtcttaatgc tagatgaaaa acgtgttatg gtggatgcca atgaagttcc
     1681 aattcaaaag atgtttgaaa agctgggtat cactaccatt aaagttaaca ttcgtaatgc
     1741 caattccctg ggaggaggct tccattgctg gacctgcgat gtccggcgcc gaggcacctt
     1801 acagtcctac ttggactgaa caggcctgat ggagcttgtg gctggcctca gatacaccta
     1861 agaagcttag gggcaaggtt cattctcctg ctttaaaaag tgcatgaact gtagtgcttt
     1921 aaacaatcat ctccttaaca ggggtcgtaa gcctggtttg cttctattac ttttctttga
     1981 cataaagaaa ataacttctg ctaggtatta ctctctactc ctaaagttat ttactatttg
     2041 gcttcaagta taaaattttg gtgaatgtgt accaagaaaa aattagtcac ctgagtaact
     2101 tggccactaa taattaacca tctacctctg tttttaattt tctttccaaa aggcagcttg
     2161 aaatgttggt cctaatctta attttttttc ctcttctata gacttgagaa tgtttttctc
     2221 taaatgagag aaagacttag aatgtacaca gatccaaaat agaatcagat tatctctttt
     2281 tttctaaagg agagaaagac ttagaacata cacagatcct aagtagaacc aggtaattgt
     2341 ctctttttct aataaggaat ttgggtaatt tttaattttt tgttttttaa aaaataacct
     2401 agactatgca aaacatcaaa gtgaattttc catgaatgtt tttaatattc tcatctcaac
     2461 attgtgatat atgctactaa aaaccttttc atatacatct tacctcattt caagtgaatt
     2521 attttaatct ttttctctct ttccaaaaat ttaggaatgt ttagtgtaat tggatttcgc
     2581 tatcagttcc catccttaag ttttgatatt caatatctga tagatacact gcatctttgg
     2641 tcatctaaga tttgtttaca aatgtgcaaa ttatttagag catagacttt ataagcatta
     2701 aaaaaaacta atggaggtaa aacctaaatg cgatgtgaaa taattttagt gttgataccg
     2761 tatgtgtatt tttattctaa taaacttttg tgttccagat tgaa
//
