Format

Send to:

Choose Destination

GATM glycine amidinotransferase [ Homo sapiens (human) ]

Gene ID: 2628, updated on 12-Aug-2018

Summary

Official Symbol
GATMprovided by HGNC
Official Full Name
glycine amidinotransferaseprovided by HGNC
Primary source
HGNC:HGNC:4175
See related
Ensembl:ENSG00000171766 MIM:602360; Vega:OTTHUMG00000131427
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; AGAT; CCDS3
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

Genomic context

See GATM in Genome Data Viewer
Location:
15q21.1
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (45361124..45402317, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (45653322..45670980, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene THAP domain containing 12 pseudogene Neighboring gene RNA, U6 small nuclear 953, pseudogene Neighboring gene spermatogenesis associated 5 like 1 Neighboring gene chromosome 15 open reading frame 48 Neighboring gene microRNA 147b

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Arginine:glycine amidinotransferase deficiency
MedGen: C2675179 OMIM: 612718 GeneReviews: Creatine Deficiency Syndromes
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amidinotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycine amidinotransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
glycine amidinotransferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
creatine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
creatine biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
creatine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
creatine metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
creatine metabolic process TAS
Traceable Author Statement
more info
 
learning or memory IMP
Inferred from Mutant Phenotype
more info
PubMed 
multicellular organism development IMP
Inferred from Mutant Phenotype
more info
PubMed 
muscle atrophy IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial intermembrane space TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

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

NCBI Reference Sequences (RefSeq)

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
    28536..46194
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AC025580, AI253042, BC039389
    Conserved Domains (1) summary
    cl19186
    Location:4280
    Amidinotransf; Amidinotransferase
  2. NM_001482.2NP_001473.1  glycine amidinotransferase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_001473.1

    Status: REVIEWED

    Source sequence(s)
    AC025580, BC004141, CD365153, DB457418
    Consensus CDS
    CCDS10122.1
    UniProtKB/Swiss-Prot
    P50440
    UniProtKB/TrEMBL
    A0A140VK19
    Related
    ENSP00000379895.3, OTTHUMP00000162120, ENST00000396659.7, OTTHUMT00000254220
    Conserved Domains (1) summary
    cl19186
    Location:86409
    Amidinotransf; Amidinotransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    45361124..45402317 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center