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Aliases for AMT Gene

Aliases for AMT Gene

  • Aminomethyltransferase 2 3
  • Glycine Cleavage System T Protein 3 4
  • EC 2.1.2.10 4 64
  • GCST 3 4
  • GCVT 3 4
  • GCE 3 6
  • NKH 3 6
  • Aminomethyltransferase (Glycine Cleavage System Protein T) 2
  • Aminomethyltransferase, Mitochondrial 3
  • Glycine Cleavage System Protein T 2

External Ids for AMT Gene

Summaries for AMT Gene

Entrez Gene Summary for AMT Gene

  • This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

GeneCards Summary for AMT Gene

AMT (Aminomethyltransferase) is a Protein Coding gene. Diseases associated with AMT include glycine encephalopathy and amt-related glycine encephalopathy. Among its related pathways are Metabolism and Glycine, serine and threonine metabolism. GO annotations related to this gene include aminomethyltransferase activity and transaminase activity.

UniProtKB/Swiss-Prot for AMT Gene

  • The glycine cleavage system catalyzes the degradation of glycine

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

Genomics for AMT Gene

Genomic Location for AMT Gene

Start:
49,416,778 bp from pter
End:
49,422,753 bp from pter
Size:
5,976 bases
Orientation:
Minus strand

Genomic View for AMT Gene

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

RefSeq DNA sequence for AMT Gene

Regulatory Elements for AMT Gene

Proteins for AMT Gene

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

    Protein Symbol:
    P48728-GCST_HUMAN
    Recommended name:
    Aminomethyltransferase, mitochondrial
    Protein Accession:
    P48728
    Secondary Accessions:
    • A8K3I5
    • B4DE61
    • B4DJQ0
    • E9PBG1
    • Q96IG6

    Protein attributes for AMT Gene

    Size:
    403 amino acids
    Molecular mass:
    43946 Da
    Quaternary structure:
    • The glycine cleavage system is composed of four proteins: P, T, L and H.

    Three dimensional structures from OCA and Proteopedia for AMT Gene

    Alternative splice isoforms for AMT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AMT Gene

Proteomics data for AMT Gene at MOPED

Selected DME Specific Peptides for AMT Gene

Post-translational modifications for AMT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains for AMT Gene

UniProtKB/Swiss-Prot:

GCST_HUMAN
Family:
  • Belongs to the GcvT family.:
    • P48728
genes like me logo Genes that share domains with AMT: view

No data available for Gene Families for AMT Gene

Function for AMT Gene

Molecular function for AMT Gene

GENATLAS Biochemistry: amino-methyltransferase,tetrahydrofolate (THF) dependent,34kDa,T-protein,catalyzing the third step of the glycine cleavage system
UniProtKB/Swiss-Prot CatalyticActivity: [Protein]-S(8)-aminomethyldihydrolipoyllysine + tetrahydrofolate = [protein]-dihydrolipoyllysine + 5,10-methylenetetrahydrofolate + NH(3)
UniProtKB/Swiss-Prot Function: The glycine cleavage system catalyzes the degradation of glycine

Enzyme Numbers (IUBMB) for AMT Gene

Gene Ontology (GO) - Molecular Function for AMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004047 aminomethyltransferase activity IEA --
GO:0008483 transaminase activity IEA --
genes like me logo Genes that share ontologies with AMT: view

Phenotypes for AMT Gene

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

miRNA for AMT Gene

miRTarBase miRNAs that target AMT

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for AMT Gene

Localization for AMT Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMT Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AMT Gene COMPARTMENTS Subcellular localization image for AMT gene
Compartment Confidence
mitochondrion 5
cytosol 2
peroxisome 2

Gene Ontology (GO) - Cellular Components for AMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with AMT: view

Pathways for AMT Gene

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

Gene Ontology (GO) - Biological Process for AMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006546 glycine catabolic process IEA --
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with AMT: view

Compounds for AMT Gene

(10) HMDB Compounds for AMT Gene

Compound Synonyms Cas Number PubMed IDs
5,10-Methenyltetrahydrofolic acid
  • 5,10-Methenyltetrahydrofolate
7444-29-3
5,10-Methylene-THF
  • 5,10-methylene-THF
31690-11-6
Ammonia
  • NH3
7664-41-7
Carbon dioxide
  • Carbon oxide
124-38-9
Glycine
  • 2-Aminoacetate
56-40-6

(1) Drugbank Compounds for AMT Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Tetrahydrofolic acid
  • 5,6,7,8-tetrahydrofolate
135-16-0 target cofactor
genes like me logo Genes that share compounds with AMT: view

Transcripts for AMT Gene

Unigene Clusters for AMT Gene

Aminomethyltransferase:
Representative Sequences:

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

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11 ^ 12
SP1: - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - -
SP6: - - - -
SP7: - - - - -
SP8:
SP9:
SP10: -
SP11:

Relevant External Links for AMT Gene

GeneLoc Exon Structure for
AMT
ECgene alternative splicing isoforms for
AMT

Expression for AMT Gene

mRNA expression in normal human tissues for AMT Gene

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

SOURCE GeneReport for Unigene cluster for AMT Gene Hs.102

genes like me logo Genes that share expressions with AMT: view

Orthologs for AMT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AMT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AMT 36
  • 99.67 (n)
  • 99.26 (a)
AMT 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AMT 36
  • 87.74 (n)
  • 88.66 (a)
AMT 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AMT 36
  • 88.59 (n)
  • 89.83 (a)
AMT 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Amt 36
  • 84.28 (n)
  • 88.83 (a)
Amt 16
Amt 37
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AMT 37
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AMT 37
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Amt 36
  • 84.78 (n)
  • 88.83 (a)
chicken
(Gallus gallus)
Aves AMT 36
  • 69.21 (n)
  • 67.89 (a)
AMT 37
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AMT 37
  • 68 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13933 36
tropical clawed frog
(Silurana tropicalis)
Amphibia amt 36
  • 66.85 (n)
  • 72.16 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6341 36
zebrafish
(Danio rerio)
Actinopterygii amt 36
  • 66.21 (n)
  • 68.75 (a)
amt 37
  • 63 (a)
OneToOne
wufc31f04 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001124 36
  • 55.58 (n)
  • 54.09 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6415 36
  • 55.61 (n)
  • 54.24 (a)
CG6415 37
  • 51 (a)
OneToOne
CG6415 38
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_F25B4.1 36
  • 53.24 (n)
  • 54.67 (a)
gcst-1 37
  • 52 (a)
OneToOne
F25B4.1 38
  • 53 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCV1 36
  • 48.09 (n)
  • 44.26 (a)
GCV1 37
  • 40 (a)
OneToOne
GCV1 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B06754g 36
  • 47.98 (n)
  • 45.28 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G11860 36
  • 53.84 (n)
  • 50.63 (a)
corn
(Zea mays)
Liliopsida Zm.4867 36
rice
(Oryza sativa)
Liliopsida Os.20702 36
Os04g0623800 36
  • 57.53 (n)
  • 53.49 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.20834 36
bread mold
(Neurospora crassa)
Ascomycetes NCU02727 36
  • 53.6 (n)
  • 46.87 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gcv1 36
  • 48.64 (n)
  • 47.55 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 47 (a)
OneToOne
Species with no ortholog for AMT:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for AMT Gene

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

Paralogs for AMT Gene

Pseudogenes.org Pseudogenes for AMT Gene

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

No data available for Paralogs for AMT Gene

Variants for AMT Gene

Sequence variations from dbSNP and Humsavar for AMT Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs1041964 -- 49,417,181(-) AACCT(A/G)CCCAA utr-variant-3-prime, nc-transcript-variant
rs1126422 -- 49,421,551(-) GTGAC(A/C)GGTGT synonymous-codon, reference, nc-transcript-variant
rs1464567 -- 49,421,819(-) GGTTT(C/G)AAAAG intron-variant
rs1464568 -- 49,420,833(-) agatc(C/T)ccagg intron-variant
rs3049036 -- 49,418,494(-) aaaaa(-/AAA)gaaaC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834687 CNV Loss 17160897

Relevant External Links for AMT Gene

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

Disorders for AMT Gene

(1) OMIM Diseases for AMT Gene (238310)

UniProtKB/Swiss-Prot

GCST_HUMAN
  • Non-ketotic hyperglycinemia (NKH) [MIM:605899]: Autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms. {ECO:0000269 PubMed:10873393, ECO:0000269 PubMed:11286506, ECO:0000269 PubMed:8005589, ECO:0000269 PubMed:9600239, ECO:0000269 PubMed:9621520}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for AMT Gene

(2) Novoseek inferred disease relationships for AMT Gene

Disease -log(P) Hits PubMed IDs
hyperglycinemia nonketotic 94.6 4
leukemia t-cell 57.5 2

Relevant External Links for AMT

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

Publications for AMT Gene

  1. Structure and chromosomal localization of the aminomethyltransferase gene (AMT). (PMID: 8188235) Nanao K. … Hayasaka K. (Genomics 1994) 2 3 4 23
  2. Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH). (PMID: 11286506) Toone J.R. … James E.R. (Mol. Genet. Metab. 2001) 3 4 23
  3. Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. (PMID: 16450403) Kure S. … Matsubara Y. (Hum. Mutat. 2006) 3 23 49
  4. Isolation and sequence determination of cDNA encoding human T-protein of the glycine cleavage system. (PMID: 7916605) Hayasaka K. … Motokawa Y. (Biochem. Biophys. Res. Commun. 1993) 3 4
  5. Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia. (PMID: 8005589) Nanao K. … Hayasaka K. (Hum. Genet. 1994) 3 4

Products for AMT Gene

Sources for AMT Gene

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