LOCUS       NP_001473                423 aa            linear   PRI 28-APR-2025
DEFINITION  glycine amidinotransferase, mitochondrial isoform 1 precursor [Homo
            sapiens].
ACCESSION   NP_001473
VERSION     NP_001473.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 423)
  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  (residues 1 to 423)
  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  (residues 1 to 423)
  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  (residues 1 to 423)
  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  (residues 1 to 423)
  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  (residues 1 to 423)
  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  (residues 1 to 423)
  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  (residues 1 to 423)
  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  (residues 1 to 423)
  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 (residues 1 to 423)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..423
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.1"
     Protein         1..423
                     /product="glycine amidinotransferase, mitochondrial
                     isoform 1 precursor"
                     /EC_number="2.1.4.1"
                     /note="transamidinase; glycine amidinotransferase,
                     mitochondrial; glycine amidinotransferase
                     (L-arginine:glycine amidinotransferase); testicular
                     secretory protein Li 19"
                     /calculated_mol_wt=44284
     transit_peptide 1..37
                     /calculated_mol_wt=4190
     mat_peptide     38..423
                     /product="glycine amidinotransferase, mitochondrial
                     isoform 1"
                     /calculated_mol_wt=44284
     Site            46
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P50440.1)"
     Site            49
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P50440.1)"
     Region          65..415
                     /region_name="amidinotransferase_AGAT-like"
                     /note="L-arginine:glycine amidinotransferase and similar
                     proteins; cd21136"
                     /db_xref="CDD:439148"
     Site            order(167,169..170,256,303,305..306,322,354..355,361,402,
                     406..407)
                     /site_type="other"
                     /note="chemical substrate binding site [chemical binding]"
                     /db_xref="CDD:439148"
     Site            385
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P50440.1)"
     CDS             1..423
                     /gene="GATM"
                     /gene_synonym="AGAT; AT; CCDS3; FRTS; FRTS1; RFS"
                     /coded_by="NM_001482.3:92..1363"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS10122.1"
                     /db_xref="GeneID:2628"
                     /db_xref="HGNC:HGNC:4175"
                     /db_xref="MIM:602360"
ORIGIN      
        1 mlrvrclrgg srgaeavhyi gsrlgrtltg wvqrtfqstq aatassrnsc aaddkatepl
       61 pkdcpvssyn ewdpleeviv graenacvpp ftievkanty ekywpfyqkq gghyfpkdhl
      121 kkavaeieem cnilktegvt vrrpdpidws lkyktpdfes tglysamprd ilivvgneii
      181 eapmawrsrf feyrayrsii kdyfhrgakw ttapkptmad elynqdypih svedrhklaa
      241 qgkfvttefe pcfdaadfir agrdifaqrs qvtnylgiew mrrhlapdyr vhiisfkdpn
      301 pmhidatfni igpgivlsnp drpchqidlf kkagwtiitp ptpiipddhp lwmsskwlsm
      361 nvlmldekrv mvdanevpiq kmfeklgitt ikvnirnans lgggfhcwtc dvrrrgtlqs
      421 yld
//
