LOCUS       NM_001482               2348 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens glycine amidinotransferase (GATM), transcript variant
            1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001482
VERSION     NM_001482.3
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 2348)
  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 2348)
  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 2348)
  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 2348)
  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 2348)
  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 2348)
  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 2348)
  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 2348)
  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 2348)
  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 2348)
  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 DB457418.1, BC004141.2 and
            CD365153.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_001482.2.
            
            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].
            
            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 :: HM005559.1, SRR3476690.175565.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000396659.8/
                                                  ENSP00000379895.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                DB457418.1         235-255
            22-2343             BC004141.2         1-2322
            2344-2348           CD365153.1         17-21               c
FEATURES             Location/Qualifiers
     source          1..2348
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.1"
     gene            1..2348
                     /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..160
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /inference="alignment:Splign:2.1.0"
     CDS             92..1363
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /EC_number="2.1.4.1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; transamidinase; glycine amidinotransferase,
                     mitochondrial; glycine amidinotransferase
                     (L-arginine:glycine amidinotransferase); testicular
                     secretory protein Li 19"
                     /codon_start=1
                     /product="glycine amidinotransferase, mitochondrial
                     isoform 1 precursor"
                     /protein_id="NP_001473.1"
                     /db_xref="CCDS:CCDS10122.1"
                     /db_xref="GeneID:2628"
                     /db_xref="HGNC:HGNC:4175"
                     /db_xref="MIM:602360"
                     /translation="MLRVRCLRGGSRGAEAVHYIGSRLGRTLTGWVQRTFQSTQAATA
                     SSRNSCAADDKATEPLPKDCPVSSYNEWDPLEEVIVGRAENACVPPFTIEVKANTYEK
                     YWPFYQKQGGHYFPKDHLKKAVAEIEEMCNILKTEGVTVRRPDPIDWSLKYKTPDFES
                     TGLYSAMPRDILIVVGNEIIEAPMAWRSRFFEYRAYRSIIKDYFHRGAKWTTAPKPTM
                     ADELYNQDYPIHSVEDRHKLAAQGKFVTTEFEPCFDAADFIRAGRDIFAQRSQVTNYL
                     GIEWMRRHLAPDYRVHIISFKDPNPMHIDATFNIIGPGIVLSNPDRPCHQIDLFKKAG
                     WTIITPPTPIIPDDHPLWMSSKWLSMNVLMLDEKRVMVDANEVPIQKMFEKLGITTIK
                     VNIRNANSLGGGFHCWTCDVRRRGTLQSYLD"
     exon            161..379
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /inference="alignment:Splign:2.1.0"
     exon            380..575
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /inference="alignment:Splign:2.1.0"
     exon            576..766
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /inference="alignment:Splign:2.1.0"
     exon            767..904
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /inference="alignment:Splign:2.1.0"
     exon            905..1069
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1070..1133
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1134..1250
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1251..2348
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2323..2328
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /note="hexamer: AATAAA"
     polyA_site      2348
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /note="major polyA site"
ORIGIN      
        1 accccgctcc gggcgcgctc tcgggaaggc ttggaccgac gcggcccaga ggccaggaac
       61 attccgcgcg tggaccagcc gggccagggc gatgctgcgg gtgcggtgtc tgcgcggcgg
      121 gagccgcggc gccgaggcgg tgcactacat cggatctcgg cttggacgaa ccttgacagg
      181 atgggtgcag cgaactttcc agagcaccca ggcagctacg gcttcctccc ggaactcctg
      241 tgcagctgac gacaaagcca ctgagcctct gcccaaggac tgccctgtct cttcttacaa
      301 cgaatgggac cccttagagg aagtgatagt gggcagagca gaaaacgcct gtgttccacc
      361 gttcaccatc gaggtgaagg ccaacacata tgaaaagtac tggccatttt accagaagca
      421 aggagggcat tattttccca aagatcattt gaaaaaggct gttgctgaaa ttgaagaaat
      481 gtgcaatatt ttaaaaacgg aaggagtgac agtaaggagg cctgacccca ttgactggtc
      541 attgaagtat aaaactcctg attttgagtc tacgggttta tacagtgcaa tgcctcgaga
      601 catcctgata gttgtgggca atgagattat cgaggctccc atggcatggc gttcacgctt
      661 ctttgagtac cgagcgtaca ggtcaattat caaagactac ttccaccgtg gcgccaagtg
      721 gacaacagct cctaagccca caatggctga tgagctttat aaccaggatt atcccatcca
      781 ctctgtagaa gacagacaca aattggctgc tcagggaaaa tttgtgacaa ctgagtttga
      841 gccatgcttt gatgctgctg acttcattcg agctggaaga gatatttttg cacagagaag
      901 ccaggttaca aactacctag gcattgaatg gatgcgtagg catcttgctc cagactacag
      961 agtgcatatc atctccttta aagatcccaa tcccatgcat attgatgcta ccttcaacat
     1021 cattggacct ggtattgtgc tttccaaccc tgaccgacca tgtcaccaga ttgatctttt
     1081 caagaaagca ggatggacta tcattactcc tccaacacca atcatcccag acgatcatcc
     1141 actctggatg tcatccaaat ggctttccat gaatgtctta atgctagatg aaaaacgtgt
     1201 tatggtggat gccaatgaag ttccaattca aaagatgttt gaaaagctgg gtatcactac
     1261 cattaaagtt aacattcgta atgccaattc cctgggagga ggcttccatt gctggacctg
     1321 cgatgtccgg cgccgaggca ccttacagtc ctacttggac tgaacaggcc tgatggagct
     1381 tgtggctggc ctcagataca cctaagaagc ttaggggcaa ggttcattct cctgctttaa
     1441 aaagtgcatg aactgtagtg ctttaaacaa tcatctcctt aacaggggtc gtaagcctgg
     1501 tttgcttcta ttacttttct ttgacataaa gaaaataact tctgctaggt attactctct
     1561 actcctaaag ttatttacta tttggcttca agtataaaat tttggtgaat gtgtaccaag
     1621 aaaaaattag tcacctgagt aacttggcca ctaataatta accatctacc tctgttttta
     1681 attttctttc caaaaggcag cttgaaatgt tggtcctaat cttaattttt tttcctcttc
     1741 tatagacttg agaatgtttt tctctaaatg agagaaagac ttagaatgta cacagatcca
     1801 aaatagaatc agattatctc tttttttcta aaggagagaa agacttagaa catacacaga
     1861 tcctaagtag aaccaggtaa ttgtctcttt ttctaataag gaatttgggt aatttttaat
     1921 tttttgtttt ttaaaaaata acctagacta tgcaaaacat caaagtgaat tttccatgaa
     1981 tgtttttaat attctcatct caacattgtg atatatgcta ctaaaaacct tttcatatac
     2041 atcttacctc atttcaagtg aattatttta atctttttct ctctttccaa aaatttagga
     2101 atgtttagtg taattggatt tcgctatcag ttcccatcct taagttttga tattcaatat
     2161 ctgatagata cactgcatct ttggtcatct aagatttgtt tacaaatgtg caaattattt
     2221 agagcataga ctttataagc attaaaaaaa actaatggag gtaaaaccta aatgcgatgt
     2281 gaaataattt tagtgttgat accgtatgtg tatttttatt ctaataaact tttgtgttcc
     2341 agattgaa
//
