Description: Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA. RefSeq Summary (NM_000429): 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]. Transcript (Including UTRs) Position: hg19 chr10:82,031,576-82,049,434 Size: 17,859 Total Exon Count: 9 Strand: - Coding Region Position: hg19 chr10:82,033,537-82,049,179 Size: 15,643 Coding Exon Count: 9
ID:METK1_HUMAN DESCRIPTION: RecName: Full=S-adenosylmethionine synthase isoform type-1; Short=AdoMet synthase 1; EC=2.5.1.6; AltName: Full=Methionine adenosyltransferase 1; Short=MAT 1; AltName: Full=Methionine adenosyltransferase I/III; Short=MAT-I/III; FUNCTION: Catalyzes the formation of S-adenosylmethionine from methionine and ATP. CATALYTIC ACTIVITY: ATP + L-methionine + H(2)O = phosphate + diphosphate + S-adenosyl-L-methionine. COFACTOR: Binds 2 divalent ions per subunit. Magnesium or cobalt (By similarity). COFACTOR: Binds 1 potassium ion per subunit (By similarity). PATHWAY: Amino-acid biosynthesis; S-adenosyl-L-methionine biosynthesis; S-adenosyl-L-methionine from L-methionine: step 1/1. SUBUNIT: Homotetramer (MAT-I) or homodimer (MAT-III). TISSUE SPECIFICITY: Expressed in liver. PTM: S-nitrosylation of Cys-120 inactivates the enzyme (By similarity). DISEASE: Defects in MAT1A are the cause of methionine adenosyltransferase deficiency (MATD) [MIM:250850]; also called MAT I/III deficiency. MATD is 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. SIMILARITY: Belongs to the AdoMet synthase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MAT1A";
Cholesterol, HDL Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903299]
Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
methionine adenosyltransferase I/III deficiency Chamberlin ME et al. 1996, Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency., J Clin Invest.
[PubMed 8770875]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q00266
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000096 sulfur amino acid metabolic process GO:0001887 selenium compound metabolic process GO:0006556 S-adenosylmethionine biosynthetic process GO:0006730 one-carbon metabolic process GO:0009087 methionine catabolic process GO:0032259 methylation GO:0051289 protein homotetramerization
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