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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 63
  • GCST 3 4
  • GCVT 3 4
  • Aminomethyltransferase (Glycine Cleavage System Protein T) 2
  • Glycine Cleavage System Protein T 2
  • GCE 3
  • NKH 3

External Ids for AMT Gene

Previous GeneCards Identifiers for AMT Gene

  • GC03P048869
  • GC03M049308
  • GC03M049413
  • GC03M049429

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 amt-related glycine encephalopathy and glycine encephalopathy. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include transaminase activity and aminomethyltransferase 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

Regulatory Elements for AMT Gene

Genomic Location for AMT Gene

Chromosome:
3
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

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

Antibody Products

Domains & Families for AMT Gene

Graphical View of Domain Structure for InterPro Entry

P48728

UniProtKB/Swiss-Prot:

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

Animal Model Products

miRNA for AMT Gene

miRTarBase miRNAs that target AMT

No data available for Animal Models , Transcription Factor Targets 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

Gene Ontology (GO) - Cellular Components for AMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 8188235
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with AMT: view

Pathways & Interactions for AMT Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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 --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0046487 glyoxylate metabolic process TAS --
genes like me logo Genes that share ontologies with AMT: view

No data available for SIGNOR curated interactions for AMT Gene

Drugs & Compounds for AMT Gene

(6) Drugs for AMT Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tetrahydrofolic acid Approved Nutra Target, cofactor 0
Glycine Approved Nutra Agonist Endogenous potentiator, co-transmitter 102
5-methyltetrahydrofolate Experimental Pharma Target 0
N5-Formyl-THF Experimental Pharma 0
NADH Nutra Target 0

(6) Additional Compounds for AMT Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5,10-Methenyltetrahydrofolic acid
  • 5,10-Methenyl-THF
  • 5,10-Methenyltetrahydrofolate
  • Anhydro-leucovorin
  • Anhydro-leucovorin a
  • Anhydroleucovorin
7444-29-3
5,10-Methylene-THF
  • (6R)-5,10-methylenetetrahydrofolate
  • 5,10-Methenyltetrahydropteroylglutamate
  • 5,10-Methylene-6-Hydrofolate
  • 5,10-Methylene-6-Hydrofolic acid
  • 5,10-Methylene-THF
31690-11-6
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
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

Protein differential expression in normal tissues from HIPED for AMT Gene

This gene is overexpressed in NK cells (12.4), Heart (11.0), and Kidney (9.3).

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

Protein tissue co-expression partners for AMT Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AMT Gene

Orthologs for AMT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AMT Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AMT 35
  • 87.74 (n)
  • 88.66 (a)
AMT 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AMT 35
  • 88.59 (n)
  • 89.83 (a)
AMT 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Amt 35
  • 84.28 (n)
  • 88.83 (a)
Amt 16
Amt 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AMT 35
  • 99.67 (n)
  • 99.26 (a)
AMT 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Amt 35
  • 84.78 (n)
  • 88.83 (a)
oppossum
(Monodelphis domestica)
Mammalia AMT 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AMT 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves AMT 35
  • 69.21 (n)
  • 67.89 (a)
AMT 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AMT 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia amt 35
  • 66.85 (n)
  • 72.16 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13933 35
zebrafish
(Danio rerio)
Actinopterygii amt 35
  • 66.21 (n)
  • 68.75 (a)
wufc31f04 35
amt 36
  • 63 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6341 35
fruit fly
(Drosophila melanogaster)
Insecta CG6415 37
  • 51 (a)
CG6415 35
  • 55.61 (n)
  • 54.24 (a)
CG6415 36
  • 51 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001124 35
  • 55.58 (n)
  • 54.09 (a)
worm
(Caenorhabditis elegans)
Secernentea F25B4.1 37
  • 53 (a)
CELE_F25B4.1 35
  • 53.24 (n)
  • 54.67 (a)
gcst-1 36
  • 52 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B06754g 35
  • 47.98 (n)
  • 45.28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCV1 35
  • 48.09 (n)
  • 44.26 (a)
GCV1 36
  • 40 (a)
OneToOne
GCV1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G11860 35
  • 53.84 (n)
  • 50.63 (a)
rice
(Oryza sativa)
Liliopsida Os.20702 35
Os04g0623800 35
  • 57.53 (n)
  • 53.49 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.20834 35
corn
(Zea mays)
Liliopsida Zm.4867 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02727 35
  • 53.6 (n)
  • 46.87 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gcv1 35
  • 48.64 (n)
  • 47.55 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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/T)GGTGT reference, missense, 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

Variation tolerance for AMT Gene

Residual Variation Intolerance Score: 16.94% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.36; 41.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AMT Gene

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

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

Disorders for AMT Gene

MalaCards: The human disease database

(7) MalaCards diseases for AMT Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
amt-related glycine encephalopathy
glycine encephalopathy
  • non-ketotic hyperglycinemia
d-glycericacidemia
  • d-glycerate kinase deficiency
atypical glycine encephalopathy
  • atypical nka
neonatal glycine encephalopathy
  • classic glycine encephalopathy
- elite association
Search AMT in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for AMT

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

No data available for Genatlas for AMT Gene

Publications for AMT Gene

  1. Structure and chromosomal localization of the aminomethyltransferase gene (AMT). (PMID: 8188235) Nanao K. … Hayasaka K. (Genomics 1994) 2 23 67
  2. Crystal structure of aminomethyltransferase in complex with dihydrolipoyl-H-protein of the glycine cleavage system: implications for recognition of lipoyl protein substrate, disease-related mutations, and reaction mechanism. (PMID: 20375021) Okamura-Ikeda K. … Taniguchi H. (J. Biol. Chem. 2010) 23 67
  3. Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. (PMID: 16450403) Kure S. … Matsubara Y. (Hum. Mutat. 2006) 23 67
  4. Bacterial taxa that limit sulfur flux from the ocean. (PMID: 17068264) Howard E.C. … Moran M.A. (Science 2006) 23 67
  5. Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation. (PMID: 15851735) Flusser H. … Kure S. (Neurology 2005) 23 67

Products for AMT Gene

Sources for AMT Gene

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