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Aliases for MAT1A Gene

Aliases for MAT1A Gene

  • Methionine Adenosyltransferase I, Alpha 2 3
  • MATA1 3 4 6
  • Methionine Adenosyltransferase I/III 3 4
  • Methionine Adenosyltransferase 1 3 4
  • AdoMet Synthase 1 3 4
  • EC 2.5.1.6 4 64
  • MAT-I/III 3 4
  • MAT 1 3 4
  • SAMS1 3 6
  • S-Adenosylmethionine Synthetase Isoform Type-1 3
  • S-Adenosylmethionine Synthase Isoform Type-1 3
  • S-Adenosylmethionine Synthetase 2
  • AdoMet Synthetase 1 3
  • SAMS 3
  • AMS1 4
  • MAT 3

External Ids for MAT1A Gene

Summaries for MAT1A Gene

Entrez Gene Summary for MAT1A Gene

  • This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008]

GeneCards Summary for MAT1A Gene

MAT1A (Methionine Adenosyltransferase I, Alpha) is a Protein Coding gene. Diseases associated with MAT1A include superior mesenteric artery syndrome and hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include methionine adenosyltransferase activity. An important paralog of this gene is MAT2A.

UniProtKB/Swiss-Prot for MAT1A Gene

  • Catalyzes the formation of S-adenosylmethionine from methionine and ATP

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAT1A Gene

Genomics for MAT1A Gene

Genomic Location for MAT1A Gene

Start:
80,271,820 bp from pter
End:
80,289,957 bp from pter
Size:
18,138 bases
Orientation:
Minus strand

Genomic View for MAT1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MAT1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAT1A Gene

Regulatory Elements for MAT1A Gene

Proteins for MAT1A Gene

  • Protein details for MAT1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00266-METK1_HUMAN
    Recommended name:
    S-adenosylmethionine synthase isoform type-1
    Protein Accession:
    Q00266
    Secondary Accessions:
    • D3DWD5
    • Q5QP09

    Protein attributes for MAT1A Gene

    Size:
    395 amino acids
    Molecular mass:
    43648 Da
    Cofactor:
    Name=K(+); Xref=ChEBI:CHEBI:29103; Note=Binds 1 potassium ion per subunit.;
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Co(2+); Xref=ChEBI:CHEBI:48828; Note=Binds 2 divalent ions per subunit. Magnesium or cobalt.;
    Quaternary structure:
    • Homotetramer (MAT-I) or homodimer (MAT-III).

    Three dimensional structures from OCA and Proteopedia for MAT1A Gene

neXtProt entry for MAT1A Gene

Proteomics data for MAT1A Gene at MOPED

Post-translational modifications for MAT1A Gene

Other Protein References for MAT1A Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for MAT1A Gene

UniProtKB/Swiss-Prot:

METK1_HUMAN
Family:
  • Belongs to the AdoMet synthase family.:
    • Q00266
genes like me logo Genes that share domains with MAT1A: view

No data available for Gene Families for MAT1A Gene

Function for MAT1A Gene

Molecular function for MAT1A Gene

GENATLAS Biochemistry: methionine adenosyltransferase,specifically expressed in liver,sulfur aminoacid metabolism
UniProtKB/Swiss-Prot CatalyticActivity: ATP + L-methionine + H(2)O = phosphate + diphosphate + S-adenosyl-L-methionine
UniProtKB/Swiss-Prot Function: Catalyzes the formation of S-adenosylmethionine from methionine and ATP

Enzyme Numbers (IUBMB) for MAT1A Gene

Gene Ontology (GO) - Molecular Function for MAT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004478 methionine adenosyltransferase activity IBA --
GO:0005524 ATP binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MAT1A: view
genes like me logo Genes that share phenotypes with MAT1A: view

Animal Models for MAT1A Gene

MGI Knock Outs for MAT1A:

miRNA for MAT1A Gene

miRTarBase miRNAs that target MAT1A

No data available for Transcription Factor Targeting and HOMER Transcription for MAT1A Gene

Localization for MAT1A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAT1A Gene COMPARTMENTS Subcellular localization image for MAT1A gene
Compartment Confidence
cytosol 4
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for MAT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MAT1A: view

Pathways for MAT1A Gene

genes like me logo Genes that share pathways with MAT1A: view

UniProtKB/Swiss-Prot Q00266-METK1_HUMAN

  • Pathway: Amino-acid biosynthesis; S-adenosyl-L-methionine biosynthesis; S-adenosyl-L-methionine from L-methionine: step 1/1

Interacting Proteins for MAT1A Gene

Selected Interacting proteins: Q00266-METK1_HUMAN for MAT1A Gene via I2D

Gene Ontology (GO) - Biological Process for MAT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000096 sulfur amino acid metabolic process TAS --
GO:0006520 cellular amino acid metabolic process TAS 1772450
GO:0006556 S-adenosylmethionine biosynthetic process IEA --
GO:0006730 one-carbon metabolic process IEA --
GO:0006805 xenobiotic metabolic process TAS --
genes like me logo Genes that share ontologies with MAT1A: view

Compounds for MAT1A Gene

(12) HMDB Compounds for MAT1A Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Cobalt
  • Co
7440-48-4
L-Methionine
  • (2S)-2-amino-4-(methylsulfanyl)butanoic acid
63-68-3
Magnesium
  • Magnesium
7439-95-4
Phosphate
  • NFB Orthophosphate
14265-44-2

(5) Drugbank Compounds for MAT1A Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
3-Oxiran-2ylalanine
target
Adenosine-5'-Diphosphate
20398-34-9 target
L-2-Amino-4-Methoxy-Cis-but-3-Enoic Acid
target
L-Methionine
  • (S)-2-amino-4-(methylthio)butanoic acid
63-68-3 enzyme substrate
S-Adenosylmethionine
  • Acylcarnitine
29908-03-0 target cofactor

(18) Novoseek inferred chemical compound relationships for MAT1A Gene

Compound -log(P) Hits PubMed IDs
s-adenosylmethionine 92.9 77
methionine 88.8 91
cystathionine 77.2 2
5-methylthioadenosine 75.9 1
s-adenosylhomocysteine 75.9 5
genes like me logo Genes that share compounds with MAT1A: view

Transcripts for MAT1A Gene

Unigene Clusters for MAT1A Gene

Methionine adenosyltransferase I, alpha:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MAT1A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9
SP1: -
SP2: -
SP3:

Relevant External Links for MAT1A Gene

GeneLoc Exon Structure for
MAT1A
ECgene alternative splicing isoforms for
MAT1A

Expression for MAT1A Gene

mRNA expression in normal human tissues for MAT1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MAT1A Gene

This gene is overexpressed in Liver (50.1).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for MAT1A Gene

SOURCE GeneReport for Unigene cluster for MAT1A Gene Hs.282670

mRNA Expression by UniProt/SwissProt for MAT1A Gene

Q00266-METK1_HUMAN
Tissue specificity: Expressed in liver
genes like me logo Genes that share expressions with MAT1A: view

Orthologs for MAT1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MAT1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAT1A 36
  • 99.16 (n)
  • 100 (a)
MAT1A 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MAT1A 36
  • 89.2 (n)
  • 95.7 (a)
MAT1A 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAT1A 36
  • 90.38 (n)
  • 96.2 (a)
MAT1A 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mat1a 36
  • 88.52 (n)
  • 96.46 (a)
Mat1a 16
Mat1a 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAT1A 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAT1A 37
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mat1a 36
  • 89.37 (n)
  • 96.2 (a)
chicken
(Gallus gallus)
Aves MAT1A 36
  • 78.31 (n)
  • 91.14 (a)
MAT1A 37
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAT1A 37
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mat1a 36
  • 74.51 (n)
  • 85.06 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.296 36
zebrafish
(Danio rerio)
Actinopterygii mat1a 36
  • 76.87 (n)
  • 84.96 (a)
mat1a 37
  • 83 (a)
OneToOne
wufi35e01 36
fruit fly
(Drosophila melanogaster)
Insecta Sam-S 37
  • 66 (a)
OneToMany
M(2)21AB 38
  • 72 (a)
worm
(Caenorhabditis elegans)
Secernentea sams-1 37
  • 65 (a)
ManyToMany
sams-3 37
  • 67 (a)
ManyToMany
sams-4 37
  • 67 (a)
ManyToMany
sams-5 37
  • 67 (a)
ManyToMany
C06E7.1a 38
  • 72 (a)
C49F5.1 38
  • 69 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAM1 37
  • 68 (a)
ManyToMany
SAM1 39
SAM2 37
  • 67 (a)
ManyToMany
soybean
(Glycine max)
eudicotyledons Gma.1681 36
thale cress
(Arabidopsis thaliana)
eudicotyledons SAM-2 36
  • 62.07 (n)
  • 62.86 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.2038 36
corn
(Zea mays)
Liliopsida Zm.5785 36
rice
(Oryza sativa)
Liliopsida Os01g0293000 36
  • 63.84 (n)
  • 63.4 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4392 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10263 37
  • 61 (a)
OneToMany
Species with no ortholog for MAT1A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MAT1A Gene

ENSEMBL:
Gene Tree for MAT1A (if available)
TreeFam:
Gene Tree for MAT1A (if available)

Paralogs for MAT1A Gene

Paralogs for MAT1A Gene

Selected SIMAP similar genes for MAT1A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MAT1A: view

Variants for MAT1A Gene

Sequence variations from dbSNP and Humsavar for MAT1A Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs15293 -- 80,271,927(+) TAGAG(A/G)GTAGG utr-variant-3-prime
rs756208 -- 80,281,995(+) ACCCC(A/G)GGGCA intron-variant
rs873395 -- 80,277,459(-) CTCCT(A/G)CTTCT intron-variant
rs1043846 -- 80,272,335(-) CACCT(C/G)CCCTA utr-variant-3-prime
rs1065766 -- 80,273,682(-) CCACC(A/T)ACCCT utr-variant-3-prime

Relevant External Links for MAT1A Gene

HapMap Linkage Disequilibrium report
MAT1A
Human Gene Mutation Database (HGMD)
MAT1A

No data available for Structural Variations from Database of Genomic Variants (DGV) for MAT1A Gene

Disorders for MAT1A Gene

(1) OMIM Diseases for MAT1A Gene (610550)

UniProtKB/Swiss-Prot

METK1_HUMAN
  • Methionine adenosyltransferase deficiency (MATD) [MIM:250850]: An inborn error of metabolism resulting in isolated hypermethioninemia. Most patients have no clinical abnormalities, although some neurologic symptoms may be present in rare cases with severe loss of methionine adenosyltransferase activity. {ECO:0000269 PubMed:10677294, ECO:0000269 PubMed:7560086, ECO:0000269 PubMed:8770875, ECO:0000269 PubMed:9042912}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(12) Novoseek inferred disease relationships for MAT1A Gene

Disease -log(P) Hits PubMed IDs
hypermethioninemia 96 10
beta-ketothiolase deficiency 83.6 4
homocystinuria 68.9 1
hepatocellular carcinoma 61.4 9
liver diseases alcoholic 49.3 4

Genatlas disease for MAT1A Gene

hypermethioninemia,persistent with brain demyelination in homozygote

Relevant External Links for MAT1A

Genetic Association Database (GAD)
MAT1A
Human Genome Epidemiology (HuGE) Navigator
MAT1A
genes like me logo Genes that share disorders with MAT1A: view

Publications for MAT1A Gene

  1. Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency. (PMID: 8770875) Chamberlin M.E. … Chou J.Y. (J. Clin. Invest. 1996) 3 4 23 49
  2. MAT1A variants are associated with hypertension, stroke, and markers of DNA damage and are modulated by plasma vitamin B-6 and folate. (PMID: 20335551) Lai C.Q. … OrdovA!s J.M. (Am. J. Clin. Nutr. 2010) 3 23 49
  3. Characterization of a full-length cDNA encoding human liver S- adenosylmethionine synthetase: tissue-specific gene expression and mRNA levels in hepatopathies. (PMID: 8393662) Alvarez L. … Mato J.M. (Biochem. J. 1993) 2 3 4
  4. Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency. (PMID: 7560086) Ubagai T. … Chou J.Y. (J. Clin. Invest. 1995) 3 4 23
  5. Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene. (PMID: 9042912) Chamberlin M.E. … Chou J.Y. (Am. J. Hum. Genet. 1997) 3 4 23

Products for MAT1A Gene

Sources for MAT1A Gene

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