MAT1A
| is a | gene |
| is | mentioned by |
| Full name | methionine adenosyltransferase I, alpha |
| EntrezGene | 4143 |
| PheGenI | 4143 |
| VariationViewer | 4143 |
| ClinVar | MAT1A |
| GeneCards | MAT1A |
| dbSNP | 4143 |
| Diseases | MAT1A |
| SADR | 4143 |
| HugeNav | 4143 |
| wikipedia | MAT1A |
| MAT1A | |
| gopubmed | MAT1A |
| EVS | MAT1A |
| HEFalMp | MAT1A |
| MyGene2 | MAT1A |
| 23andMe | MAT1A |
| UniProt | Q00266 |
| Ensembl | ENSG00000151224 |
| OMIM | 610550 |
| # SNPs | 14 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1057517759 | 0 | 80,274,641 | |
| rs118204001 | 0 | 80,274,639 | |
| rs118204002 | 0 | 80,285,517 | |
| rs118204003 | 0 | 80,274,535 | |
| rs118204004 | 0 | 80,275,054 | |
| rs118204005 | 0 | 80,275,178 | |
| rs118204006 | 0 | 80,274,599 | |
| rs138556525 | 0 | 80,275,192 | |
| rs2236568 | 0 | 80,276,167 | |
| rs2993763 | 0 | 80,273,838 | |
| rs376757912 | 0 | 80,280,193 | |
| rs376993881 | 0 | 80,275,073 | |
| rs72558181 | 0 | 80,275,177 | |
| rs913435613 | 0 | 80,276,381 |
Entrez Gene summary for MAT1A Gene [1]:
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)
GeneCards Summary for MAT1A Gene [2]:
MAT1A (methionine adenosyltransferase I, alpha) is a protein-coding gene. Diseases associated with MAT1A include isolated persistent hypermethioninemia, and superior mesenteric artery syndrome. GO annotations related to this gene include methionine adenosyltransferase activity. An important paralog of this gene is MAT2A.
UniProtKB/Swiss-Prot: METK1_HUMAN, Q00266 Function: Catalyzes the formation of S-adenosylmethionine from methionine and ATP
