| GENE NAME | SHMT1 |
| CHROMOSOME | 17 |
| ENSEMBL ID | ENSG00000176974 |
| ENTREZ ID | 6470 |
| UNIPROT ACCESSION NUMBER | P34896 |
| GO MOLECULAR FUNCTION | pyridoxal phosphate binding; mRNA 5'-UTR binding; cobalt ion binding; catalytic activity; serine binding; protein homodimerization activity; zinc ion binding; glycine hydroxymethyltransferase activity; translation repressor activity, mRNA regulatory element binding |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | hsa01230; R-HSA-1430728; hsa01523; hsa01100; R-HSA-71291; R-HSA-196849; hsa00630; R-HSA-196854; R-HSA-71262; hsa01240; R-HSA-196757; hsa01200; hsa00670; hsa00260 |
| 1 combination linked to SHMT1 | OLI743 |
| 1 variant linked to SHMT1 | SHMT1:c.571C>T, p.Arg191Cys |
| 1 disease linked to SHMT1 | Isolated anencephaly |