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    GATM glycine amidinotransferase [ Homo sapiens (human) ]

    Gene ID: 2628, updated on 10-Dec-2024

    Summary

    Official Symbol
    GATMprovided by HGNC
    Official Full Name
    glycine amidinotransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:4175
    See related
    Ensembl:ENSG00000171766 MIM:602360; AllianceGenome:HGNC:4175
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AT; RFS; AGAT; FRTS; CCDS3; FRTS1
    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]
    Expression
    Biased expression in kidney (RPKM 706.9), liver (RPKM 467.2) and 8 other tissues See more
    Orthologs
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    Genomic context

    See GATM in Genome Data Viewer
    Location:
    15q21.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (45361124..45402227, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (43169297..43210402, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (45653322..45694425, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene THAP domain containing 12 pseudogene Neighboring gene uncharacterized LOC124903482 Neighboring gene RNA, U6 small nuclear 953, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9359 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9360 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6407 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6408 Neighboring gene AFG2 AAA ATPase homolog B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:45716799-45717298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6409 Neighboring gene chromosome 15 open reading frame 48 Neighboring gene microRNA 147b

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (8 hits/1263 screens)

    Associated conditions

    EBI GWAS Catalog

    Description
    Genetic determinants influencing human serum metabolome among African Americans.
    EBI GWAS Catalog
    Genome-wide association study identifies 3 genomic loci significantly associated with serum levels of homoarginine: the AtheroRemo Consortium.
    EBI GWAS Catalog
    Multiple loci associated with indices of renal function and chronic kidney disease.
    EBI GWAS Catalog
    New loci associated with kidney function and chronic kidney disease.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    General protein information

    Preferred Names
    glycine amidinotransferase, mitochondrial
    Names
    glycine amidinotransferase (L-arginine:glycine amidinotransferase)
    testicular secretory protein Li 19
    transamidinase
    NP_001307944.1
    NP_001473.1
    XP_047288341.1
    XP_047288342.1
    XP_047288343.1
    XP_047288344.1
    XP_054233700.1
    XP_054233701.1
    XP_054233702.1
    XP_054233703.1
    XP_054233704.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011674.2 RefSeqGene

      Range
      28774..46194
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001321015.2 → NP_001307944.1  glycine amidinotransferase, mitochondrial isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC025580, AI253042, BC039389
      Conserved Domains (1) summary
      cl19186
      Location:4 → 280
      Amidinotransf; Amidinotransferase
    2. NM_001482.3 → NP_001473.1  glycine amidinotransferase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_001473.1

      Status: REVIEWED

      Source sequence(s)
      BC004141, CD365153, DB457418
      Consensus CDS
      CCDS10122.1
      UniProtKB/Swiss-Prot
      B4DH99, B4DPI3, P50440, Q53EQ4
      UniProtKB/TrEMBL
      A0A140VK19, A0A6Q8PHC6
      Related
      ENSP00000379895.3, ENST00000396659.8
      Conserved Domains (1) summary
      cl19186
      Location:86 → 409
      Amidinotransf; Amidinotransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      45361124..45402227 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432387.1 → XP_047288343.1  glycine amidinotransferase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A0A6Q8PHC6
    2. XM_047432385.1 → XP_047288341.1  glycine amidinotransferase, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A0A6Q8PHC6
    3. XM_047432386.1 → XP_047288342.1  glycine amidinotransferase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A0A6Q8PHC6
    4. XM_047432388.1 → XP_047288344.1  glycine amidinotransferase, mitochondrial isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      43169297..43210402 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377725.1 → XP_054233700.1  glycine amidinotransferase, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A0A6Q8PHC6
    2. XM_054377727.1 → XP_054233702.1  glycine amidinotransferase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A0A6Q8PHC6
    3. XM_054377728.1 → XP_054233703.1  glycine amidinotransferase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A0A6Q8PHC6
    4. XM_054377726.1 → XP_054233701.1  glycine amidinotransferase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A0A6Q8PHC6
    5. XM_054377729.1 → XP_054233704.1  glycine amidinotransferase, mitochondrial isoform X3

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