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Aliases for GATM Gene

Aliases for GATM Gene

  • Glycine Amidinotransferase 2 3
  • Glycine Amidinotransferase (L-Arginine:Glycine Amidinotransferase) 2 3 5
  • Transamidinase 3 4
  • EC 2.1.4.1 4 63
  • AGAT 3 4
  • L-Arginine:Glycine Amidinotransferase 4
  • Testicular Secretory Protein Li 19 3
  • EC 2.1.4 63
  • CCDS3 3
  • AT 3

External Ids for GATM Gene

Previous GeneCards Identifiers for GATM Gene

  • GC15M041211
  • GC15M038700
  • GC15M043232
  • GC15M043369
  • GC15M043440
  • GC15M045653
  • GC15M022477

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) is a Protein Coding gene. Diseases associated with GATM include cerebral creatine deficiency syndrome 3 and l-arginine:glycine amidinotransferase deficiency. Among its related pathways are Metabolism and Viral mRNA Translation. GO annotations related to this gene include hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines and glycine amidinotransferase activity.

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

Regulatory Elements for GATM Gene

Promoters for GATM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GATM on UCSC Golden Path with GeneCards custom track

Genomic Location for GATM Gene

Chromosome:
15
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

Genes around GATM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GATM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GATM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for GATM

Domains & Families for GATM Gene

Gene Families for GATM Gene

Protein Domains for GATM Gene

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 :
  • One chain folds into a compact single domain composed of repeating units, five beta-beta-alpha-beta modules, which surround the central active site.
  • Belongs to the amidinotransferase family.
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.
Family:
  • Belongs to the amidinotransferase family.
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

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

Human Phenotype Ontology for GATM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GATM Gene

MGI Knock Outs for GATM:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
extracellular 5
mitochondrion 5

Gene Ontology (GO) - Cellular Components for GATM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with GATM: view

Pathways & Interactions for GATM Gene

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

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:0006595 polyamine metabolic process TAS --
GO:0006600 creatine metabolic process TAS --
GO:0034641 cellular nitrogen compound metabolic process TAS --
genes like me logo Genes that share ontologies with GATM: view

No data available for SIGNOR curated interactions for GATM Gene

Drugs & Compounds for GATM Gene

(18) Drugs for GATM Gene - From: Novoseek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ornithine Approved Nutra Full agonist, Agonist, Target 63
Glycine Approved Nutra Full agonist, Agonist, Target Endogenous potentiator, co-transmitter 94
Creatine Approved Nutra 110
L-Arginine Approved Nutra Full agonist, Agonist 0
spermine Approved Nutra Full agonist, Agonist 0

(8) Additional Compounds for GATM Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-Guanidinobutanoic acid
  • 4-(Carbamimidamido)butanoate
  • 4-(Carbamimidamido)butanoic acid
  • 4-Guanidinobutanoate
  • 4-Guanidinobutanoic acid
  • 4-Guanidinobutyrate
463-00-3
Guanidoacetic acid
  • (carboxymethyl)-Guanidine
  • 2-[[Amino(imino)methyl]amino]acetate
  • 2-[[Amino(imino)methyl]amino]acetic acid
  • a-Guanidinoacetate
  • a-Guanidinoacetic acid
352-97-6
L-Alpha-aminobutyric acid
  • (+)-2-Aminobutanoate
  • (+)-2-Aminobutanoic acid
  • (+)-2-Aminobutyric acid
  • (+)-alpha-Aminobutyric acid
  • (-)-2-Aminobutyric acid
1492-24-6
N1-acetylspermine
  • N'-Acetylspermine
  • N'-Monoacetylspermine
  • N(1)-Acetylspermine
  • N-(3-((4-((3-Aminopropyl)amino)butyl)amino)propyl)-Acetamide
  • N-Acetylspermine
25593-72-0
Norspermidine
  • -1,3-propanediamine
  • 1,7-Diamino-4-azaheptane
  • 3, 3'-Diaminodipropylamine
  • 3, {3'-Iminobis[propylamine]}
  • 3,3'-Diamino-Dipropylamine
56-18-8
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 (x14.7), Liver (x7.3), and Kidney - Cortex (x5.2).

Protein differential expression in normal tissues from HIPED for GATM Gene

This gene is overexpressed in Liver, secretome (31.1), Kidney (13.4), and Pancreas (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GATM: view

Protein tissue co-expression partners for GATM Gene

Primer Products

In Situ Assay Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia GATM 35
  • 99.61 (n)
  • 99.76 (a)
GATM 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gatm 35
  • 90.31 (n)
  • 95.51 (a)
oppossum
(Monodelphis domestica)
Mammalia GATM 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GATM 36
  • 78 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia gatm 35
  • 78.86 (n)
  • 83.85 (a)
MGC75983 35
African clawed frog
(Xenopus laevis)
Amphibia MGC53198 35
zebrafish
(Danio rerio)
Actinopterygii gatm 35
  • 71.58 (n)
  • 79.1 (a)
gatm 36
  • 79 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3571 35
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
rs1288775 - 45,369,480(+) CCTCC(A/G/T)TGCTT reference, missense
VAR_069816 Cerebral creatine deficiency syndrome 3 (CCDS3)
VAR_071789 Cerebral creatine deficiency syndrome 3 (CCDS3)
VAR_071790 Cerebral creatine deficiency syndrome 3 (CCDS3)
rs1426932 -- 45,395,058(-) CTAAG(A/G)CACTA intron-variant

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

Variation tolerance for GATM Gene

Residual Variation Intolerance Score: 19.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.36; 7.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GATM Gene

HapMap Linkage Disequilibrium report
GATM
Human Gene Mutation Database (HGMD)
GATM

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

Disorders for GATM Gene

MalaCards: The human disease database

(10) MalaCards diseases for GATM Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cerebral creatine deficiency syndrome 3
  • agat deficiency
l-arginine:glycine amidinotransferase deficiency
  • agat deficiency
agammaglobulinemia, x-linked 1
  • bruton-type agammaglobulinemia
agammaglobulinemia and isolated hormone deficiency
  • isolated growth hormone deficiency type 3
cerebral creatine deficiency syndrome
  • cerebral creatine deficiency syndromes
- elite association - COSMIC cancer census association via MalaCards
Search GATM in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for GATM

Genetic Association Database (GAD)
GATM
Human Genome Epidemiology (HuGE) Navigator
GATM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GATM
genes like me logo Genes that share disorders with GATM: view

No data available for Genatlas for GATM Gene

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 67
  2. Non-enzymatic interactions of glyoxylate with lysine, arginine, and glucosamine: a study of advanced non-enzymatic glycation like compounds. (PMID: 16970975) Dutta U. … Dain J.A. (Bioorg. Chem. 2007) 25 26
  3. Spatiotemporal expression of the creatine metabolism related genes agat, gamt and ct1 during zebrafish embryogenesis. (PMID: 17486546) Wang L. … Zhang H. (Int. J. Dev. Biol. 2007) 25 26
  4. Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease. (PMID: 16769397) Battini R. … Cioni G. (J. Pediatr. 2006) 3 23
  5. 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 23

Products for GATM Gene

Sources for GATM Gene

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