GAMT Gene (Protein Coding)

Guanidinoacetate N-Methyltransferase

GC19M001397
GIFtS:
47
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 ... See more...

Aliases for GAMT Gene

Aliases for GAMT Gene

  • Guanidinoacetate N-Methyltransferase 2 3 4 5
  • EC 2.1.1.2 4 54
  • 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 Urea cycle and metabolism of amino groups and Glycine, serine and threonine metabolism. Gene Ontology (GO) annotations related to this gene include methyltransferase activity and guanidinoacetate N-methyltransferase activity.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for GAMT Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GAMT Gene

Genomics for GAMT Gene

GeneHancer (GH) Regulatory Elements for GAMT Gene

Promoters and enhancers for GAMT Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GAMT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GAMT gene promoter:
  • GR
  • GR-alpha
  • GR-beta
  • HEN1
  • LyF-1
  • NRSF form 1
  • NRSF form 2
  • SRF
  • SRF (504 AA)

Genomic Locations for GAMT Gene

Genomic Locations for GAMT Gene
chr19:1,397,026-1,401,570
(GRCh38/hg38)
Size:
4,545 bases
Orientation:
Minus strand
chr19:1,397,088-1,401,569
(GRCh37/hg19)
Size:
4,482 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 Structure • Gene Density

RefSeq DNA sequence for GAMT Gene

Proteins for GAMT Gene

Products:

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  2. Protein
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  • 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

Protein Expression for GAMT Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for GAMT Gene

Q14353:
  • GFGMAIAA
  • PLKGLWE
  • LTYCNLTSWGEL

Post-translational modifications for GAMT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GAMT Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for GAMT Gene

Gene Families for GAMT Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for GAMT Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GAMT Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ76206, highly similar to Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 2, mRNA (A8K0A0_HUMAN)
  • cDNA FLJ52994, highly similar to Guanidinoacetate N-methyltransferase (EC2.1.1.2) (B4DMJ3_HUMAN)
  • Guanidinoacetate N-methyltransferase (GAMT_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14353

UniProtKB/Swiss-Prot:

GAMT_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. RMT2 methyltransferase family.
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

Function for GAMT Gene

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  2. CRISPR
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  6. Cell Line

Molecular function for GAMT Gene

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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=guanidinoacetate + S-adenosyl-L-methionine = creatine + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:10656, ChEBI:CHEBI:15378, ChEBI:CHEBI:57742, ChEBI:CHEBI:57856, ChEBI:CHEBI:57947, ChEBI:CHEBI:59789; EC=2.1.1.2; Evidence=. ;.
GENATLAS Biochemistry:
guanidinoacetate N-methyltransferase,expressed in liver,catalyzing the synthesis of creatine from guanidinoaacetate and S-adenosylmethionine

Enzyme Numbers (IUBMB) for GAMT Gene

Gene Ontology (GO) - Molecular Function for GAMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008168 methyltransferase activity TAS --
GO:0008757 S-adenosylmethionine-dependent methyltransferase activity IBA 21873635
GO:0016740 transferase activity IEA --
GO:0030731 guanidinoacetate N-methyltransferase activity IMP,IBA 8651275
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

CRISPR Products

Clone Products

  • Addgene plasmids for GAMT

No data available for Phenotypes From GWAS Catalog , miRNA , Transcription Factor Targets and HOMER Transcription for GAMT Gene

Localization for GAMT Gene

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 GAMT gene
Compartment Confidence
nucleus 4
cytosol 4
plasma membrane 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GAMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with GAMT: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for GAMT Gene

Pathways & Interactions for GAMT Gene

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

UniProtKB/Swiss-Prot Q14353-GAMT_HUMAN

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

Gene Ontology (GO) - Biological Process for GAMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006600 creatine metabolic process TAS --
GO:0006601 creatine biosynthetic process TAS,IEA --
GO:0006936 muscle contraction TAS 8547310
GO:0007283 spermatogenesis IEA --
GO:0009887 animal organ morphogenesis 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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanidine Approved Pharma Target 0
Creatine Approved, Investigational Nutra Target, product of 160
Glycocyamine Experimental Pharma Target 0
s-adenosylhomocysteine Experimental Pharma Target 0
Phosphocreatine Nutra Target, product of 13

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
 485-80-3
genes like me logo Genes that share compounds with GAMT: view

Transcripts for GAMT Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for GAMT Gene

(2) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(207) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for GAMT

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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GAMT Gene

mRNA expression in normal human tissues for GAMT Gene
mRNA expression by GTEx for GAMT GenemRNA expression by BioGPS 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, MaxQB, and MOPED for GAMT Gene



Protein tissue co-expression partners for GAMT Gene

NURSA nuclear receptor signaling pathways regulating expression of GAMT Gene:

GAMT

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.

Evidence on tissue expression from TISSUES for GAMT Gene

  • Muscle(4.8)
  • Liver(4.7)
  • Nervous system(4.6)
  • Pancreas(2.3)
  • Kidney(2.2)
  • Blood(2)
  • Urine(2)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • head
General:
  • spinal cord
genes like me logo Genes that share expression patterns with GAMT: view

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
chimpanzee
(Pan troglodytes)
 Mammalia GAMT 33 32
  • 98.92 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia GAMT 33 32
  • 89.08 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Gamt 17 33 32
  • 84.82 (n)
rat
(Rattus norvegicus)
 Mammalia Gamt 32
  • 82.7 (n)
dog
(Canis familiaris)
 Mammalia GAMT 33
  • 72 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia GAMT 33
  • 67 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia GAMT 33
  • 26 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves GAMT 33
  • 42 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia GAMT 33
  • 64 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia gamt 32
  • 69.9 (n)
MGC75698 32
African clawed frog
(Xenopus laevis)
 Amphibia Xl.28782 32
zebrafish
(Danio rerio)
 Actinopterygii gamt 33 32
  • 70.71 (n)
 OneToOne
Dr.28451 32
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.3309 32
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes RMT2 35
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.7998 33
  • 49 (a)
 OneToOne
Cin.2015 32
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.2015 32
Species where no ortholog for GAMT 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GAMT: view image

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

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Sequence variations from dbSNP and Humsavar for GAMT Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1048753323 likely-benign, Cerebral creatine deficiency syndrome 1,401,468(-) G/A coding_sequence_variant, synonymous_variant
rs104894694 pathogenic, Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] 1,401,329(-) T/G coding_sequence_variant, missense_variant
rs1131691644 pathogenic-likely-pathogenic, not provided 1,398,983(-) T/G coding_sequence_variant, missense_variant
rs117884619 benign, likely-benign, not specified, Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome, History of neurodevelopmental disorder 1,399,567(-) C/T coding_sequence_variant, synonymous_variant
rs121909272 pathogenic, Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] 1,398,980(-) C/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv2758743 CNV gain+loss 17122850
esv32942 CNV gain+loss 17666407
esv3643389 CNV gain 21293372
nsv578278 CNV loss 21841781
nsv833705 CNV loss 17160897
nsv953942 CNV deletion 24416366
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)

Additional Variant Information for GAMT Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GAMT Gene

MalaCards: The human disease database

(9) MalaCards diseases for GAMT Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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

Additional Disease Information for GAMT

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 GAMT: view

Publications for GAMT Gene

  1. Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA. (PMID: 8547310) Isbrandt D … von Figura K (Biochimica et biophysica acta 1995) 2 3 4 23 56
  2. A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal. (PMID: 17336114) Almeida LS … Salomons GS (Molecular genetics and metabolism 2007) 3 23 26 56
  3. The gene encoding guanidinoacetate methyltransferase (GAMT) maps to human chromosome 19 at band p13.3 and to mouse chromosome 10. (PMID: 9570966) Chae YJ … Lee H (Genomics 1998) 2 3 23 56
  4. The human guanidinoacetate methyltransferase (GAMT) gene maps to a syntenic region on 19p13.3, homologous to band C of mouse chromosome 10, but GAMT is not mutated in jittery mice. (PMID: 9325156) Jenne DE … Zimmer M (Biochemical and biophysical research communications 1997) 3 4 23 56
  5. Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. (PMID: 8651275) Stöckler S … von Figura K (American journal of human genetics 1996) 3 4 23 56

ExternalLinks

View latest publications for GAMT gene in Mastermind

Products for GAMT Gene

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Sources for GAMT Gene