Gene table of MAT1A : methionine adenosyltransferase 1A

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MAT1A	OMIM link	Number of associated genes	genes
250850	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY	OMIM, HUMSAVAR	link to OMIM	1	MAT1A

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Biosynthesis of amino acids	hsa01230	6.58
Metabolic pathways	hsa01100	2.49
Cysteine and methionine metabolism	hsa00270	7.56

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Biological oxidations	R-HSA-211859	5.55
Metabolism of amino acids and derivatives	R-HSA-71291	5.4
Sulfur amino acid metabolism	R-HSA-1614635	8.46
Methylation	R-HSA-156581	9.66
Phase II conjugation	R-HSA-156580	6.52
Diseases of metabolism	R-HSA-5668914	6.57
Defective MAT1A causes Methionine adenosyltransferase deficiency (MATD)	R-HSA-5579024	12.98
Metabolism	R-HSA-1430728	2.34
Metabolic disorders of biological oxidation enzymes	R-HSA-5579029	7.85
Disease	R-HSA-1643685	3.33

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
ion binding	GO:0043167	1.36
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
cation binding	GO:0043169	1.4
nucleotide binding	GO:0000166	1.96
transferase activity, transferring alkyl or aryl (other than methyl) groups	GO:0016765	5.58
transferase activity	GO:0016740	1.95
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
selenomethionine adenosyltransferase activity	GO:0098601	9.74
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
methionine adenosyltransferase activity	GO:0004478	9.05
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
adenyl ribonucleotide binding	GO:0032559	2.41
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19