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Aliases for GAMT Gene

Aliases for GAMT Gene

  • Guanidinoacetate N-Methyltransferase 2 3 5
  • EC 2.1.1.2 4 63
  • Epididymis Secretory Protein Li 20 3
  • HEL-S-20 3
  • TP53I2 3
  • CCDS2 3
  • PIG2 3

External Ids for GAMT Gene

Previous GeneCards Identifiers for GAMT Gene

  • GC19M001454
  • GC19M001466
  • GC19M001337
  • GC19M001348
  • GC19M001171

Summaries for GAMT Gene

Entrez Gene Summary for GAMT Gene

  • The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]

GeneCards Summary for GAMT Gene

GAMT (Guanidinoacetate N-Methyltransferase) is a Protein Coding gene. Diseases associated with GAMT include cerebral creatine deficiency syndrome 2 and cerebral creatine deficiency syndrome. Among its related pathways are Metabolism and Viral mRNA Translation. GO annotations related to this gene include methyltransferase activity and guanidinoacetate N-methyltransferase activity.

UniProtKB/Swiss-Prot for GAMT Gene

  • Converts guanidinoacetate to creatine, using S-adenosylmethionine as the methyl donor (PubMed:26003046, PubMed:24415674, PubMed:26319512). Important in nervous system development (PubMed:24415674).

Gene Wiki entry for GAMT Gene

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

Genomics for GAMT Gene

Regulatory Elements for GAMT Gene

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

ENSRs around GAMT on UCSC Golden Path with GeneCards custom track

Genomic Location for GAMT Gene

Chromosome:
19
Start:
1,397,026 bp from pter
End:
1,401,570 bp from pter
Size:
4,545 bases
Orientation:
Minus strand

Genomic View for GAMT Gene

Genes around GAMT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GAMT Gene

Proteins for GAMT Gene

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

    Protein Symbol:
    Q14353-GAMT_HUMAN
    Recommended name:
    Guanidinoacetate N-methyltransferase
    Protein Accession:
    Q14353
    Secondary Accessions:
    • A8K0A0
    • Q53Y34
    • Q8WVJ1

    Protein attributes for GAMT Gene

    Size:
    236 amino acids
    Molecular mass:
    26318 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for GAMT Gene

    Alternative splice isoforms for GAMT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GAMT Gene

Proteomics data for GAMT Gene at MOPED

Selected DME Specific Peptides for GAMT Gene

Post-translational modifications for GAMT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GAMT Gene

Antibody Products

Domains & Families for GAMT Gene

Protein Domains for GAMT Gene

Graphical View of Domain Structure for InterPro Entry

Q14353

UniProtKB/Swiss-Prot:

GAMT_HUMAN :
  • Contains 1 RMT2 (arginine N-methyltransferase 2-like) domain.
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. RMT2 methyltransferase family.
Domain:
  • Contains 1 RMT2 (arginine N-methyltransferase 2-like) domain.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. RMT2 methyltransferase family.
genes like me logo Genes that share domains with GAMT: view

No data available for Gene Families for GAMT Gene

Function for GAMT Gene

Molecular function for GAMT Gene

GENATLAS Biochemistry:
guanidinoacetate N-methyltransferase,expressed in liver,catalyzing the synthesis of creatine from guanidinoaacetate and S-adenosylmethionine
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + guanidinoacetate = S-adenosyl-L-homocysteine + creatine.
UniProtKB/Swiss-Prot Function:
Converts guanidinoacetate to creatine, using S-adenosylmethionine as the methyl donor (PubMed:26003046, PubMed:24415674, PubMed:26319512). Important in nervous system development (PubMed:24415674).

Enzyme Numbers (IUBMB) for GAMT Gene

Gene Ontology (GO) - Molecular Function for GAMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030731 guanidinoacetate N-methyltransferase activity IEA,IMP 8651275
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with GAMT: view
genes like me logo Genes that share phenotypes with GAMT: view

Human Phenotype Ontology for GAMT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GAMT Gene

MGI Knock Outs for GAMT:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for GAMT Gene

Localization for GAMT Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GAMT Gene COMPARTMENTS Subcellular localization image for GAMT gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 4
plasma membrane 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GAMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with GAMT: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GAMT Gene

Pathways & Interactions for GAMT Gene

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

Pathways by source for GAMT Gene

UniProtKB/Swiss-Prot Q14353-GAMT_HUMAN

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

Interacting Proteins for GAMT Gene

Gene Ontology (GO) - Biological Process for GAMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006595 polyamine metabolic process TAS --
GO:0006936 muscle contraction TAS 8547310
GO:0007283 spermatogenesis IEA --
GO:0009887 organ morphogenesis IEA --
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with GAMT: view

No data available for SIGNOR curated interactions for GAMT Gene

Drugs & Compounds for GAMT Gene

(8) Drugs for GAMT Gene - From: Novoseek, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanidine Approved Pharma Target 0
Creatine Approved Nutra Target, product of 110
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma Target 0
N-[Amino(Imino)Methyl]Glycine Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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
genes like me logo Genes that share compounds with GAMT: view

Transcripts for GAMT Gene

mRNA/cDNA for GAMT Gene

Unigene Clusters for GAMT Gene

Guanidinoacetate N-methyltransferase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7
SP1: - -
SP2:
SP3:

Relevant External Links for GAMT Gene

GeneLoc Exon Structure for
GAMT
ECgene alternative splicing isoforms for
GAMT

Expression for GAMT Gene

mRNA expression in normal human tissues for GAMT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Muscle - Skeletal (x11.3) and Liver (x10.2).

Protein differential expression in normal tissues from HIPED for GAMT Gene

This gene is overexpressed in Liver, secretome (17.7) and Liver (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GAMT Gene



SOURCE GeneReport for Unigene cluster for GAMT Gene Hs.81131

mRNA Expression by UniProt/SwissProt for GAMT Gene

Q14353-GAMT_HUMAN
Tissue specificity: Expressed in liver.
genes like me logo Genes that share expression patterns with GAMT: view

Protein tissue co-expression partners for GAMT Gene

Primer Products

In Situ Assay Products

Orthologs for GAMT Gene

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

Orthologs for GAMT Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GAMT 35
  • 89.08 (n)
  • 89.36 (a)
GAMT 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gamt 35
  • 84.82 (n)
  • 88.09 (a)
Gamt 16
Gamt 36
  • 73 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GAMT 35
  • 98.92 (n)
  • 98.08 (a)
GAMT 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gamt 35
  • 82.7 (n)
  • 87.23 (a)
dog
(Canis familiaris)
Mammalia GAMT 36
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GAMT 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GAMT 36
  • 26 (a)
OneToOne
chicken
(Gallus gallus)
Aves GAMT 36
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GAMT 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gamt 35
  • 69.9 (n)
  • 74.89 (a)
MGC75698 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.28782 35
zebrafish
(Danio rerio)
Actinopterygii Dr.28451 35
gamt 35
  • 70.71 (n)
  • 73.59 (a)
gamt 36
  • 65 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3309 35
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RMT2 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2015 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7998 36
  • 49 (a)
OneToOne
Species with no ortholog for GAMT:
  • 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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 GAMT Gene

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

Paralogs for GAMT Gene

Pseudogenes.org Pseudogenes for GAMT Gene

genes like me logo Genes that share paralogs with GAMT: view

No data available for Paralogs for GAMT Gene

Variants for GAMT Gene

Sequence variations from dbSNP and Humsavar for GAMT Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs17851582 - 1,397,444(+) CCTCC(A/G)TACGG downstream-variant-500B, reference, missense
VAR_058102 Cerebral creatine deficiency syndrome 2 (CCDS2)
VAR_058103 Cerebral creatine deficiency syndrome 2 (CCDS2)
VAR_058104 Cerebral creatine deficiency syndrome 2 (CCDS2)
VAR_058105 Cerebral creatine deficiency syndrome 2 (CCDS2)

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

Variant ID Type Subtype PubMed ID
nsv910292 CNV Loss 21882294
dgv3555n71 CNV Loss 21882294
dgv1055e1 CNV Complex 17122850
dgv3580n71 CNV Loss 21882294
dgv3583n71 CNV Loss 21882294
dgv3588n71 CNV Loss 21882294
dgv3589n71 CNV Loss 21882294
dgv3595n71 CNV Loss 21882294
dgv3596n71 CNV Loss 21882294
esv32942 CNV Gain+Loss 17666407
dgv3598n71 CNV Loss 21882294
nsv910489 CNV Loss 21882294
nsv910491 CNV Gain+Loss 21882294
nsv910492 CNV Loss 21882294
dgv3599n71 CNV Loss 21882294
nsv910494 CNV Loss 21882294
essv18235 CNV CNV 17122850
nsv833705 CNV Loss 17160897
nsv910499 CNV Loss 21882294
nsv910500 CNV Loss 21882294
nsv9663 CNV Gain 18304495

Variation tolerance for GAMT Gene

Residual Variation Intolerance Score: 72.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.60; 30.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GAMT Gene

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

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

Disorders for GAMT Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
cerebral creatine deficiency syndrome 2
  • guanidinoacetate methyltransferase deficiency
cerebral creatine deficiency syndrome
  • cerebral creatine deficiency syndromes
creatine transporter deficiency
  • cerebral creatine deficiency syndrome 1
creatine deficiency syndromes
  • cerebral creatine deficiency syndromes
cerebral creatine deficiency syndrome 3
  • agat deficiency
- elite association - COSMIC cancer census association via MalaCards
Search GAMT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GAMT_HUMAN
  • Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]: An autosomal recessive disorder characterized by developmental delay and regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures, movement disturbances, severe depletion of creatine and phosphocreatine in the brain, and accumulation of guanidinoacetic acid in brain and body fluids. {ECO:0000269 PubMed:12468279, ECO:0000269 PubMed:15108290, ECO:0000269 PubMed:15651030, ECO:0000269 PubMed:16293431, ECO:0000269 PubMed:16855203, ECO:0000269 PubMed:17101918, ECO:0000269 PubMed:17466557, ECO:0000269 PubMed:19388150, ECO:0000269 PubMed:23660394, ECO:0000269 PubMed:24415674, ECO:0000269 PubMed:8651275}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for GAMT Gene

muscular hypotonia,severe,progressive extrapyramidal movement disorder,extremely low excretion of creatine and accumulation of guanidinoacetate in brain

Relevant External Links for GAMT

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

Publications for GAMT Gene

  1. Cloning and sequence analysis of human guanidinoacetate N- methyltransferase cDNA. (PMID: 8547310) Isbrandt D. … von Figura K. (Biochim. Biophys. Acta 1995) 2 3 4 23 67
  2. A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal. (PMID: 17336114) Almeida L.S. … Salomons G.S. (Mol. Genet. Metab. 2007) 3 23 25 26
  3. Creatine uptake in brain and skeletal muscle of mice lacking guanidinoacetate methyltransferase assessed by magnetic resonance spectroscopy. (PMID: 17347380) Kan H.E. … Heerschap A. (J. Appl. Physiol. 2007) 23 25 26
  4. The gene encoding guanidinoacetate methyltransferase (GAMT) maps to human chromosome 19 at band p13.3 and to mouse chromosome 10. (PMID: 9570966) Chae Y.J. … Lee H. (Genomics 1998) 2 3 23
  5. Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency. (PMID: 19027335) Dhar S.U. … Wong L.J. (Mol. Genet. Metab. 2009) 3 23

Products for GAMT Gene

Sources for GAMT Gene

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