MAT1A
entrez
4143
canonical
uniprot
Q00266
canonical
ensembl
ENSG00000151224
resolver
ensp
ENSP00000361287
resolver
enst
ENST00000372213
resolver
genesymbol
MAT1A
resolver
genesymbol_syn
AMS1
resolver
genesymbol_syn
MATA1
resolver
hgnc
HGNC:6903
resolver
uniprot
D3DWD5
resolver
uniprot
Q5QP09
resolver
uniprot_entry
METK1_HUMAN
resolver
uniprot_sec
D3DWD5
resolver
uniprot_sec
Q5QP09
resolver
amino_acid_sequence
MNGPVDGLCDHSLSEGVFMFTSESVGEGHPDKICDQISDAVLDAHLKQDPNAKVACETVCKTGMVLLCGEITSMAMVDYQRVVRDTIKHIGYDDSAKGFDFKTCNVLVALEQQSPDIAQCVHLDRNEEDVGAGDQGLMFGYATDETEECMPLTIILAHKLNARMADLRRSGLLPWLRPDSKTQVTVQYMQDNGAVIPVRIHTIVISVQHNEDITLEEMRRALKEQVIRAVVPAKYLDEDTVYHLQPSGRFVIGGPQGDAGVTGRKIIVDTYGGWGAHGGGAFSGKDYTKVDRSAAYAARWVAKSLVKAGLCRRVLVQVSYAIGVAEPLSISIFTYGTSQKTERELLDVVHKNFDLRPGVIVRDLDLKKPIYQKTACYGHFGRSEFPWEVPRKLVF
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.5.1.6
uniprot
proteins
function
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 triphosphate. {ECO:0000269|PubMed:10677294}.
uniprot
proteins
mass_dalton
43648
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid biosynthesis; S-adenosyl-L-methionine biosynthesis; S-adenosyl-L-methionine from L-methionine: step 1/1. {ECO:0000269|PubMed:10677294}.
uniprot
proteins
post_translational_modification
PTM: S-nitrosylation of Cys-120 inactivates the enzyme. {ECO:0000250|UniProtKB:P13444}.; PTM: An intrachain disulfide bond can be formed. The protein structure shows that the relevant Cys residues are in a position that would permit formation of a disulfide bond. {ECO:0000250|UniProtKB:P13444}.
uniprot
proteins
protein_family
AdoMet synthase family
uniprot
proteins
pubmed
10677294
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1772450
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23425511
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
7560086
uniprot
proteins
pubmed
8393662
uniprot
proteins
pubmed
8770875
uniprot
proteins
pubmed
9042912
uniprot
proteins
sequence_length
395
uniprot
proteins