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Aliases for GATM Gene

Aliases for GATM Gene

  • Glycine Amidinotransferase 2 3 5
  • L-Arginine:Glycine Amidinotransferase 2 4
  • Transamidinase 3 4
  • AGAT 3 4
  • Glycine Amidinotransferase (L-Arginine:Glycine Amidinotransferase) 3
  • Glycine Amidinotransferase, Mitochondrial 3
  • Testicular Secretory Protein Li 19 3
  • EC 2.1.4.1 4
  • 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 cognitive disability, 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 Astrocytoma. Among its related pathways are Metabolism and Arginine and proline metabolism. Gene Ontology (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

Additional gene information for GATM Gene

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

Genomics for GATM Gene

GeneHancer (GH) Regulatory Elements for GATM Gene

Promoters and enhancers for GATM Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J045375 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.3 +24.5 24528 3.8 RB1 RAD21 YY1 ZNF207 ZNF143 FOS IKZF2 RUNX3 SMAD5 USF2 ENSG00000275672 GATM LOC100533853 SPATA5L1 ENSG00000259539 DUOX2 GC15P045361 GC15P045362
GH15J045400 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 -0.4 -376 3.4 PKNOX1 SMAD1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 SPATA5L1 GATM CTDSPL2 SPG11 C15orf48 ENSG00000259563 RNU7-5P SQOR DUOX2
GH15J045228 Enhancer 0.4 ENCODE 4.8 +172.2 172233 3.1 ZNF316 HNF4A MAFK DUOX1 SLC28A2 LOC101928414 GATM ENSG00000259338
GH15J045391 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 0.4 +10.0 10024 1.8 BACH1 BATF IRF4 RELA NFATC1 EED ATF7 ETV6 BCLAF1 IKZF2 LOC100533853 SPATA5L1 C15orf48 DUOX1 DUOXA1 BLOC1S6 PIR55932 GATM
GH15J045399 Enhancer 0.7 ENCODE 0.7 +2.5 2529 0.2 GATAD2A CTCF ZNF654 ZNF792 ARID4B PPARG RAD21 RFX5 IKZF1 ZNF143 C15orf48 DUOX1 DUOXA1 GATM SPATA5L1 PIR55932
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GATM on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GATM gene promoter:
  • Sox5
  • FOXO3b
  • FOXO3a
  • FOXO3
  • USF1
  • USF-1
  • SRY
  • TBP
  • RP58
  • Max1

Genomic Locations for GATM Gene

Genomic Locations for GATM Gene
chr15:45,361,124-45,402,327
(GRCh38/hg38)
Size:
41,204 bases
Orientation:
Minus strand
chr15:45,653,322-45,694,525
(GRCh37/hg19)
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

Post-translational modifications for GATM Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GATM Gene

Domains & Families for GATM Gene

Gene Families for GATM Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for GATM Gene

Blocks:
InterPro:
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 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 CatalyticActivity:
L-arginine + glycine = L-ornithine + guanidinoacetate.
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 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

Phenotypes From GWAS Catalog for GATM Gene

Gene Ontology (GO) - Molecular Function for GATM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015067 amidinotransferase activity IBA,IEA --
GO:0015068 glycine amidinotransferase activity TAS --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with GATM: view
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:
  • Gatm Gatm<tm1.1Isb>
  • Gatm Gatm<tm1b(KOMP)Wtsi>

Animal Model Products

Clone Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GATM gene
Compartment Confidence
extracellular 5
mitochondrion 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GATM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005758 mitochondrial intermembrane space TAS --
GO:0016020 membrane IEA --
GO:0070062 extracellular exosome HDA 23533145
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:0006600 creatine metabolic process TAS,IMP --
GO:0006601 creatine biosynthetic process IEA,IDA --
GO:0007275 multicellular organism development IMP 26490222
GO:0007611 learning or memory IMP 26490222
GO:0014889 muscle atrophy IMP 26490222
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ornithine Approved Nutra Target 70
gamma-Aminobutyric acid Approved, Investigational Pharma Target 263
Glycine Approved, Vet_approved Nutra Full agonist, Agonist, Target 254
Simvastatin Approved Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor 537
Creatine Approved, Investigational Nutra 139

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-Guanidinobutanoic acid
  • 4-Guanidinobutanoate
  • 4-Guanidinobutyric acid
  • gamma-Guanidinobutyrate
  • gamma-Guanidinobutyric acid
  • 4-Guanidinobutyrate
463-00-3
L-alpha-Aminobutyric acid
  • (-)-2-Aminobutyric acid
  • (2S)-2-Aminobutyric acid
  • (S)-2-Aminobutanoate
  • (S)-2-Aminobutanoic acid
  • (S)-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
  • 1,7-diamino-4-Azaheptane
  • 3,3'-Iminobis(propylamine)
  • 3,3'-Iminobispropylamine
  • 3,3'-Iminodi(propylamine)
  • 3,3-Diaminodipropylamine
56-18-8
genes like me logo Genes that share compounds with GATM: view

Transcripts for GATM Gene

mRNA/cDNA for GATM Gene

Unigene Clusters for GATM Gene

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

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for GATM Gene



Protein tissue co-expression partners for GATM Gene

NURSA nuclear receptor signaling pathways regulating expression of GATM Gene:

GATM

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.

Evidence on tissue expression from TISSUES for GATM Gene

  • Kidney(5)
  • Nervous system(5)
  • Liver(4.9)
  • Muscle(4.5)
  • Pancreas(3.4)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GATM Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • urinary
Regions:
Head and neck:
  • brain
  • head
Abdomen:
  • kidney
genes like me logo Genes that share expression patterns 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 34 33
  • 99.61 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GATM 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GATM 34 33
  • 93.85 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GATM 34 33
  • 92.43 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gatm 16 34 33
  • 91.02 (n)
rat
(Rattus norvegicus)
Mammalia Gatm 33
  • 90.31 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GATM 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves GATM 34 33
  • 79.82 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GATM 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gatm 33
  • 78.86 (n)
MGC75983 33
African clawed frog
(Xenopus laevis)
Amphibia MGC53198 33
zebrafish
(Danio rerio)
Actinopterygii gatm 34 33 33
  • 71.58 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3571 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 70 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU07176 33
  • 44.71 (n)
Species where no ortholog for GATM was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GATM: view image

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 Variation AA Info Type
rs1049503 benign, Arginine:glycine amidinotransferase deficiency 45,361,509(-) T/C 3_prime_UTR_variant
rs1049508 benign, Arginine:glycine amidinotransferase deficiency 45,361,394(-) A/G 3_prime_UTR_variant
rs1049518 benign, Arginine:glycine amidinotransferase deficiency 45,361,169(-) G/A 3_prime_UTR_variant
rs1052590218 likely-benign, Arginine:glycine amidinotransferase deficiency 45,378,397(-) G/A coding_sequence_variant, intron_variant, synonymous_variant
rs1145086 conflicting-interpretations-of-pathogenicity, benign, not specified, Arginine:glycine amidinotransferase deficiency 45,362,129(-) A/C/G/T coding_sequence_variant, missense_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
esv3569553 CNV gain 25503493
esv3892684 CNV gain 25118596
nsv1160292 CNV duplication 26073780
nsv1520 CNV insertion 18451855
nsv469721 CNV gain 16826518
nsv569315 CNV gain 21841781

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)

Additional Variant Information for GATM Gene

Human Gene Mutation Database (HGMD)
GATM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GATM

SNP Genotyping and Copy Number Assay Products

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: HGMD, LncRNADisease, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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, ECO:0000269 PubMed:26490222, ECO:0000269 PubMed:27233232}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GATM

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 letters 1994) 2 3 4 22 58
  2. 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 ME … Barton PJ (Circulation 2006) 3 4 22 58
  3. Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. (PMID: 11555793) Item CB … Cioni G (American journal of human genetics 2001) 3 4 22 58
  4. The ligand-induced structural changes of human L-Arginine:Glycine amidinotransferase. A mutational and crystallographic study. (PMID: 9915841) Fritsche E … Huber R (The Journal of biological chemistry 1999) 3 4 22 58
  5. Recombinant expression and isolation of human L-arginine:glycine amidinotransferase and identification of its active-site cysteine residue. (PMID: 9148748) Humm A … Huber R (The Biochemical journal 1997) 3 4 22 58

Products for GATM Gene

Sources for GATM Gene

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