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Aliases for GATM Gene

Aliases for GATM Gene

  • Glycine Amidinotransferase (L-Arginine:Glycine Amidinotransferase) 2 3
  • AGAT 3 4 6
  • Transamidinase 3 4
  • EC 2.1.4.1 4 63
  • CCDS3 3 6
  • Glycine Amidinotransferase, Mitochondrial 3
  • L-Arginine:Glycine Amidinotransferase 4
  • EC 2.1.4 63
  • AT 3

External Ids for GATM Gene

Summaries for GATM Gene

Entrez Gene Summary for GATM Gene

  • 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 mental retardation, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]

GeneCards Summary for GATM Gene

GATM (Glycine Amidinotransferase (L-Arginine:Glycine Amidinotransferase)) is a Protein Coding gene. Diseases associated with GATM include cerebral creatine deficiency syndrome 3 and renal tuberculosis. Among its related pathways are Metabolism and Arginine and proline metabolism. GO annotations related to this gene include glycine amidinotransferase activity and hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines.

UniProtKB/Swiss-Prot for GATM Gene

  • Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis.

Gene Wiki entry for GATM Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GATM Gene

Genomics for GATM Gene

Genomic Location for GATM Gene

Start:
45,361,124 bp from pter
End:
45,402,327 bp from pter
Size:
41,204 bases
Orientation:
Minus strand

Genomic View for GATM Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GATM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GATM Gene

Regulatory Elements for GATM Gene

Proteins for GATM Gene

  • Protein details for GATM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50440-GATM_HUMAN
    Recommended name:
    Glycine amidinotransferase, mitochondrial
    Protein Accession:
    P50440
    Secondary Accessions:
    • B4DH99
    • B4DPI3
    • Q53EQ4

    Protein attributes for GATM Gene

    Size:
    423 amino acids
    Molecular mass:
    48455 Da
    Quaternary structure:
    • Homodimer. There is an equilibrium between the monomeric and dimeric forms, shifted towards the side of the monomer.
    SequenceCaution:
    • Sequence=BAG60595.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GATM Gene

    Alternative splice isoforms for GATM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GATM Gene

Proteomics data for GATM Gene at MOPED

Post-translational modifications for GATM Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GATM Gene

Domains for GATM Gene

Protein Domains for GATM Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GATM Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P50440

UniProtKB/Swiss-Prot:

GATM_HUMAN
Domain:
  • One chain folds into a compact single domain composed of repeating units, five beta-beta-alpha-beta modules, which surround the central active site:
    • P50440
Family:
  • Belongs to the amidinotransferase family.:
    • P50440
genes like me logo Genes that share domains with GATM: view

Function for GATM Gene

Molecular function for GATM Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=2.0 uM for arginine {ECO:0000269 PubMed:3800397, ECO:0000269 PubMed:9266688}; KM=3.0 uM for glycine {ECO:0000269 PubMed:3800397, ECO:0000269 PubMed:9266688}; Vmax=0.44 umol/min/mg enzyme {ECO:0000269 PubMed:3800397, ECO:0000269 PubMed:9266688};
UniProtKB/Swiss-Prot CatalyticActivity: L-arginine + glycine = L-ornithine + guanidinoacetate.
UniProtKB/Swiss-Prot Function: Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis.
UniProtKB/Swiss-Prot Induction: Expression is elevated in the myocardium during heart failure, and decreased in inter-uterine growth restriction (IUGR)-associated placenta.

Enzyme Numbers (IUBMB) for GATM Gene

Gene Ontology (GO) - Molecular Function for GATM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015067 amidinotransferase activity --
GO:0015068 glycine amidinotransferase activity TAS --
GO:0016813 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines IEA --
genes like me logo Genes that share ontologies with GATM: view
genes like me logo Genes that share phenotypes with GATM: view

Animal Models for GATM Gene

MGI Knock Outs for GATM:

miRNA for GATM Gene

miRTarBase miRNAs that target GATM

No data available for Transcription Factor Targeting and HOMER Transcription for GATM Gene

Localization for GATM Gene

Subcellular locations from UniProtKB/Swiss-Prot for GATM Gene

Isoform 1: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side. Note=Probably attached to the outer side of the inner membrane.
Isoform 2: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GATM Gene COMPARTMENTS Subcellular localization image for GATM gene
Compartment Confidence
mitochondrion 5

Gene Ontology (GO) - Cellular Components for GATM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005758 mitochondrial intermembrane space TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with GATM: view

Pathways for GATM Gene

genes like me logo Genes that share pathways with GATM: view

Pathways by source for GATM Gene

UniProtKB/Swiss-Prot P50440-GATM_HUMAN

  • Pathway: Amine and polyamine biosynthesis; creatine biosynthesis; creatine from L-arginine and glycine: step 1/2

Gene Ontology (GO) - Biological Process for GATM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006600 creatine metabolic process TAS --
GO:0006601 creatine biosynthetic process IEA --
GO:0006979 response to oxidative stress IEA --
GO:0007584 response to nutrient IEA --
GO:0010033 response to organic substance --
genes like me logo Genes that share ontologies with GATM: view

Compounds for GATM Gene

(12) HMDB Compounds for GATM Gene

Compound Synonyms Cas Number PubMed IDs
4-Guanidinobutanoic acid
  • 4-(carbamimidamido)butanoate
463-00-3
Creatine
  • ((amino(imino)methyl)(methyl)amino)acetate
57-00-1
Gamma-Aminobutyric acid
  • 3-Carboxypropylamine
56-12-2
Glycine
  • 2-Aminoacetate
56-40-6
Guanidoacetic acid
  • (carboxymethyl)-Guanidine
352-97-6

(6) Drugbank Compounds for GATM Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Alpha-Aminobutyric Acid
target
Delta-Amino Valeric Acid
target
Gamma(Amino)-Butyric Acid
target
Glycine
  • 2-Aminoacetic acid
56-40-6 target
L-Ornithine
  • (S)-2,5-Diaminopentanoate
70-26-8 target

(10) Novoseek inferred chemical compound relationships for GATM Gene

Compound -log(P) Hits PubMed IDs
guanidinoacetate 97.2 40
creatinine 70.2 53
ornithine 64 2
arginine 54 6
imidazole 31 1
genes like me logo Genes that share compounds with GATM: view

Transcripts for GATM Gene

Unigene Clusters for GATM Gene

Glycine amidinotransferase (L-arginine:glycine amidinotransferase):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GATM Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b
SP1: - - - - -
SP2: - - -
SP3: -
SP4:
SP5: - - - - -
SP6: - - -
SP7: - - -
SP8:

Relevant External Links for GATM Gene

GeneLoc Exon Structure for
GATM
ECgene alternative splicing isoforms for
GATM

Expression for GATM Gene

mRNA expression in normal human tissues for GATM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GATM Gene

This gene is overexpressed in Pancreas (14.7), Liver (7.3), and Kidney - Cortex (5.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GATM Gene

SOURCE GeneReport for Unigene cluster for GATM Gene Hs.75335

mRNA Expression by UniProt/SwissProt for GATM Gene

P50440-GATM_HUMAN
Tissue specificity: Expressed in brain, heart, kidney, liver, lung, salivary gland and skeletal muscle tissue, with the highest expression in kidney. Biallelically expressed in placenta and fetal tissues.
genes like me logo Genes that share expressions with GATM: view

Orthologs for GATM Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GATM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GATM 35
  • 99.61 (n)
  • 99.76 (a)
GATM 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GATM 35
  • 92.43 (n)
  • 94.09 (a)
GATM 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GATM 35
  • 93.85 (n)
  • 96.45 (a)
GATM 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gatm 35
  • 91.02 (n)
  • 95.74 (a)
Gatm 16
Gatm 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GATM 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GATM 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gatm 35
  • 90.31 (n)
  • 95.51 (a)
chicken
(Gallus gallus)
Aves GATM 35
  • 79.82 (n)
  • 86.35 (a)
GATM 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GATM 36
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC53198 35
tropical clawed frog
(Silurana tropicalis)
Amphibia gatm 35
  • 78.86 (n)
  • 83.85 (a)
MGC75983 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3571 35
zebrafish
(Danio rerio)
Actinopterygii gatm 35
  • 71.58 (n)
  • 79.1 (a)
gatm 36
  • 79 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU07176 35
  • 44.71 (n)
  • 33.82 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 70 (a)
OneToOne
Species with no ortholog for GATM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GATM Gene

ENSEMBL:
Gene Tree for GATM (if available)
TreeFam:
Gene Tree for GATM (if available)

Paralogs for GATM Gene

No data available for Paralogs for GATM Gene

Variants for GATM Gene

Sequence variations from dbSNP and Humsavar for GATM Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs1049491 -- 45,366,096(-) TCAAC(A/G)TCATT reference, missense
rs1049502 -- 45,361,546(-) ttttt(G/T)ttttt utr-variant-3-prime
rs1049503 -- 45,361,509(-) CATCA(A/G)AGTGA utr-variant-3-prime
rs1049508 -- 45,361,394(+) GAGAG(A/G)AAAAG utr-variant-3-prime
rs1049511 -- 45,361,383(-) TTTCC(A/C)AAAAT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for GATM Gene

Variant ID Type Subtype PubMed ID
nsv469721 CNV Complex 16826518
nsv1520 CNV Insertion 18451855

Relevant External Links for GATM Gene

HapMap Linkage Disequilibrium report
GATM
Human Gene Mutation Database (HGMD)
GATM
Locus Specific Mutation Databases (LSDB)
GATM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GATM Gene

Disorders for GATM Gene

(1) OMIM Diseases for GATM Gene (602360)

UniProtKB/Swiss-Prot

GATM_HUMAN
  • Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]: An autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. Most patients develop a myopathy characterized by muscle weakness and atrophy later in life. {ECO:0000269 PubMed:11555793, ECO:0000269 PubMed:20682460, ECO:0000269 PubMed:22386973, ECO:0000269 PubMed:23660394, ECO:0000269 PubMed:23770102}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for GATM Gene

(3) Novoseek inferred disease relationships for GATM Gene

Disease -log(P) Hits PubMed IDs
language disorders 68.1 1
mental retardation 67.8 4
acute pancreatitis 18.3 1

Relevant External Links for GATM

GeneTests
GATM
GeneReviews
GATM
Genetic Association Database (GAD)
GATM
Human Genome Epidemiology (HuGE) Navigator
GATM
genes like me logo Genes that share disorders with GATM: view

Publications for GATM Gene

  1. The amino acid sequences of human and pig L-arginine:glycine amidinotransferase. (PMID: 8313955) Humm A. … Mann K. (FEBS Lett. 1994) 2 3 4 23
  2. Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. (PMID: 11555793) Item C.B. … Cioni G. (Am. J. Hum. Genet. 2001) 3 4 23
  3. Myocardial expression of the arginine:glycine amidinotransferase gene is elevated in heart failure and normalized after recovery: potential implications for local creatine synthesis. (PMID: 16820567) Cullen M.E. … Barton P.J. (Circulation 2006) 3 4 23
  4. Recombinant expression and isolation of human L-arginine:glycine amidinotransferase and identification of its active-site cysteine residue. (PMID: 9148748) Humm A. … Huber R. (Biochem. J. 1997) 3 4 23
  5. Structure and reaction mechanism of L-arginine:glycine amidinotransferase. (PMID: 9165070) Humm A. … Steinbacher S. (Biol. Chem. 1997) 3 4 23

Products for GATM Gene

Sources for GATM Gene

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