Property Summary

NCBI Gene PubMed Count 41
PubMed Score 120.78
PubTator Score 435.35

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
osteosarcoma 1.175 6.3e-04
medulloblastoma, large-cell 1.200 1.9e-04
pancreatic ductal adenocarcinoma liver m... -2.674 2.5e-02
pancreatic cancer -1.500 1.5e-03
psoriasis -1.700 2.7e-25

Protein-protein Interaction (6)

Gene RIF (24)

PMID Text
24377546 5-Aza-CdR showed no effects on MAT2A methylation.
24231718 The mutations in the other 10 patients showed autosomal recessive inheritance and included eight novel MAT1A mutations.
23425511 Liver-specific isoenzyme MAT1A is genetically linked with an inborn metabolic disorder of hypermethioninemia, as well as a ubiquitously expressed isoenzyme MAT2A, whose enzymatic activity is regulated by an associated subunit MAT2B.
23241961 upregulation of miR-664, miR-485-3p, and miR-495 contributes to lower MAT1A expression in HCC, and enhanced tumorigenesis may provide potential targets for HCC therapy.
22951388 Methionine adenosyltransferase I/III deficiency is caused by mutations in the MAT1A gene. (Review)
22807109 Report SNPs that are highly associated with hepatic GNMT protein expression and the coordinate regulation of MAT1A levels.
22318685 we found for the first time a post-transcriptional regulation of MAT1A and MAT2A by AUF1 and HuR in hepatocellular carcinoma.
22270009 Human Dead-box protein 3 (DDX3X), a RNA helicase regulating RNA splicing, export, transcription and translation was down-regulated upon MAT1A expression.
21813468 Coexpression of MAT2A and MAT2B in COS-1 cells resulted in significantly increased MAT enzyme activity.
21678410 Methylation of the MAT1A coding region can inhibit gene transcription. This represents a key mechanism for decreased MAT1A expression in hepatocellular carcinoma.
21185701 genetic variant MAT1A 3U1510 displayed a significant interaction with dietary n-3:n-6 polyunsaturated fatty acids ratio in determining plasma homocysteine
20675163 MAT and tripolyphosphatase (PPPase) activities of 18 MAT1A variants, six of them novel, and none of them previously assayed for activity. With the exception of G69S and Y92H, all recombinant proteins showed impairment (usually severe) of MAT activity.
20634891 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20335551 MAT1A variants were strongly associated with hypertension and stroke; improving folate and vitamin B-6 status may decrease cardiovascular disease risk of only a subset of the population, depending on genotype.
20335551 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20146079 expression of the MAT1A gene is mediated by C/EBP and is indirectly upregulated by T(3) in hepatoma cell lines
19913121 Observational study of gene-disease association. (HuGE Navigator)
19161160 Observational study of gene-disease association. (HuGE Navigator)
19048631 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18500573 Results show a rather high frequency of hypermethioninaemia due to MAT I/III deficiency (MAT1A dominant mutation) in the Galician neonatal population.
16385451 Observational study of gene-disease association. (HuGE Navigator)
15935930 Mutations in the MAT1A gene are the most prevalent cause of isolated hypermethioninemia in Taiwanese.

AA Sequence

MNGPVDGLCDHSLSEGVFMFTSESVGEGHPDKICDQISDAVLDAHLKQDPNAKVACETVCKTGMVLLCGE      1 - 70
ITSMAMVDYQRVVRDTIKHIGYDDSAKGFDFKTCNVLVALEQQSPDIAQCVHLDRNEEDVGAGDQGLMFG     71 - 140
YATDETEECMPLTIILAHKLNARMADLRRSGLLPWLRPDSKTQVTVQYMQDNGAVIPVRIHTIVISVQHN    141 - 210
EDITLEEMRRALKEQVIRAVVPAKYLDEDTVYHLQPSGRFVIGGPQGDAGVTGRKIIVDTYGGWGAHGGG    211 - 280
AFSGKDYTKVDRSAAYAARWVAKSLVKAGLCRRVLVQVSYAIGVAEPLSISIFTYGTSQKTERELLDVVH    281 - 350
KNFDLRPGVIVRDLDLKKPIYQKTACYGHFGRSEFPWEVPRKLVF                             351 - 395
//

Text Mined References (43)

PMID Year Title
24377546 2013 5-Aza-2<-deoxycytidine induces hepatoma cell apoptosis via enhancing methionine adenosyltransferase 1A expression and inducing S-adenosylmethionine production.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24231718 2013 Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan.
23425511 2013 Insight into S-adenosylmethionine biosynthesis from the crystal structures of the human methionine adenosyltransferase catalytic and regulatory subunits.
23241961 2013 MicroRNAs regulate methionine adenosyltransferase 1A expression in hepatocellular carcinoma.
22951388 2012 Methionine adenosyltransferase I/III deficiency: neurological manifestations and relevance of S-adenosylmethionine.
22807109 2012 Human liver methionine cycle: MAT1A and GNMT gene resequencing, functional genomics, and hepatic genotype-phenotype correlation.
22318685 2012 Role of transcriptional and posttranscriptional regulation of methionine adenosyltransferases in liver cancer progression.
22270009 2012 Proteomic analysis of human hepatoma cells expressing methionine adenosyltransferase I/III: Characterization of DDX3X as a target of S-adenosylmethionine.
21813468 2011 Methionine adenosyltransferase 2A/2B and methylation: gene sequence variation and functional genomics.
21678410 2012 Inhibition of human methionine adenosyltransferase 1A transcription by coding region methylation.
21269460 2011 Initial characterization of the human central proteome.
21185701 2012 MAT1A variants modulate the effect of dietary fatty acids on plasma homocysteine concentrations.
20675163 Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20335551 2010 MAT1A variants are associated with hypertension, stroke, and markers of DNA damage and are modulated by plasma vitamin B-6 and folate.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
20146079 2010 Thyroid hormone receptor-mediated regulation of the methionine adenosyltransferase 1 gene is associated with cell invasion in hepatoma cell lines.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19161160 2009 An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).
19048631 2009 Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.
18500573 2008 Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme.
16385451 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
16341674 2005 Transcriptome analysis of human gastric cancer.
15935930 2005 Spectrum of hypermethioninemia in neonatal screening.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10677294 2000 Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations.
9482646 1998 Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III.
9175157 1997 S-adenosylmethionine synthesis: molecular mechanisms and clinical implications.
9042912 1997 Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene.
8770875 1996 Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency.
8393662 1993 Characterization of a full-length cDNA encoding human liver S-adenosylmethionine synthetase: tissue-specific gene expression and mRNA levels in hepatopathies.
8314764 1993 Cloning and expression of murine S-adenosylmethionine synthetase.
7560086 1995 Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency.
7271238 1981 Methioninemia and myopathy: a new disorder.
7213623 1981 Multiple species of mammalian S-adenosylmethionine synthetase. Partial purification and characterization.
3812486 1987 Hepatic methionine adenosyltransferase deficiency in a 31-year-old man.
1772450 1991 Molecular cloning and nucleotide sequence of cDNA encoding the human liver S-adenosylmethionine synthetase.
1683972 1991 Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway.
1056281 1975 Methionine adenosyltransferase, cystathionine beta-synthase and cystathionine gamma-lyase activity of rat liver subcellular particles, human blood cells and mixed white cells from rat bone marrow.