Gene Gene information from NCBI Gene database.
Entrez ID 4143
Gene name Methionine adenosyltransferase 1A
Gene symbol MAT1A
Synonyms (NCBI Gene)
MATMATA1SAMSSAMS1
Chromosome 10
Chromosome location 10q22.3
Summary 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 gro
SNPs SNP information provided by dbSNP.
15
SNP ID Visualize variation Clinical significance Consequence
rs72558181 C>T Pathogenic Missense variant, coding sequence variant
rs118204001 A>C Pathogenic Missense variant, coding sequence variant
rs118204002 G>A,T Pathogenic Missense variant, coding sequence variant
rs118204003 G>A Pathogenic, likely-pathogenic Missense variant, coding sequence variant
rs118204004 A>G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
216
miRTarBase ID miRNA Experiments Reference
MIRT018853 hsa-miR-335-5p Microarray 18185580
MIRT437450 hsa-miR-664a-3p Luciferase reporter assay 23241961
MIRT437451 hsa-miR-485-3p Luciferase reporter assay 23241961
MIRT437452 hsa-miR-495-3p Luciferase reporter assay 23241961
MIRT722268 hsa-miR-3156-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004478 Function Methionine adenosyltransferase activity IBA
GO:0004478 Function Methionine adenosyltransferase activity IDA 10677294
GO:0004478 Function Methionine adenosyltransferase activity IEA
GO:0005515 Function Protein binding IPI 28514442, 32296183, 32814053, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610550 6903 ENSG00000151224
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q00266
Protein name S-adenosylmethionine synthase isoform type-1 (AdoMet synthase 1) (EC 2.5.1.6) (Methionine adenosyltransferase 1) (MAT 1) (Methionine adenosyltransferase I/III) (MAT-I/III)
Protein function Catalyzes the formation of S-adenosylmethionine from methionine and ATP. The reaction comprises two steps that are both catalyzed by the same enzyme: formation of S-adenosylmethionine (AdoMet) and triphosphate, and subsequent hydrolysis of the t
PDB 2OBV , 6SW5 , 6SW6 , 8SWA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00438 S-AdoMet_synt_N 17 115 S-adenosylmethionine synthetase, N-terminal domain Domain
PF02772 S-AdoMet_synt_M 129 250 S-adenosylmethionine synthetase, central domain Domain
PF02773 S-AdoMet_synt_C 252 389 S-adenosylmethionine synthetase, C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in liver. {ECO:0000269|PubMed:8393662}.
Sequence
Sequence length 395
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cysteine and methionine metabolism
One carbon pool by folate
Metabolic pathways
Biosynthesis of amino acids
Biosynthesis of cofactors
  Methylation
Sulfur amino acid metabolism
Metabolism of ingested SeMet, Sec, MeSec into H2Se
Defective MAT1A causes Methionine adenosyltransferase deficiency (MATD)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
348
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Pathogenic rs138556525 RCV005895468
Hepatic methionine adenosyltransferase deficiency Likely pathogenic; Pathogenic rs773267230, rs118204001, rs118204003, rs118204004, rs763178849, rs1364515992, rs72558181, rs118204005, rs1186170316, rs372757656, rs1229896690, rs756522673, rs2492507192, rs2492489562, rs138556525
View all (15 more)
RCV001999844
RCV000001261
RCV000001263
RCV000001264
RCV000001265
RCV000001266
RCV000001267
RCV000001269
RCV002717265
RCV002820913
RCV002904143
RCV003007276
RCV003019820
RCV003128357
RCV000540793
RCV001855164
RCV003525313
RCV003525314
RCV003523613
RCV003637764
RCV003637731
RCV003637818
RCV001865323
RCV000763218
RCV000701281
RCV000802617
RCV001035213
RCV001063875
RCV001233273
RCV001879918
MAT1A-related disorder Pathogenic rs118204005, rs138556525 RCV004752674
RCV003391023
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Uncertain significance rs750570720 RCV005891890
Cholangiocarcinoma Benign rs10887721 RCV005891278
Familial prostate cancer Uncertain significance rs1456459077 RCV005927120
Melanoma Uncertain significance rs1033430730 RCV005927048
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Beckwith Wiedemann Syndrome Associate 21282187
Breast Neoplasms Associate 37628631
Carcinoma Hepatocellular Associate 14530285, 18045590, 20146079, 21678410, 22270009, 24098708, 30776190, 31959915, 35008908, 37240447
Carcinoma Hepatocellular Inhibit 24377546
Cardiovascular Diseases Associate 20335551
Cognition Disorders Associate 10677294
Colonic Neoplasms Associate 35712285, 37543674
Colorectal Neoplasms Associate 26108676, 30610787, 30776190, 32453965
Demyelinating Diseases Associate 10677294
Gray Platelet Syndrome Associate 10677294