Gene table of SHMT1 : serine hydroxymethyltransferase 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SHMT1	OMIM link	Number of associated genes	genes
606764	GASTROINTESTINAL STROMAL TUMOR	ClinVar	link to OMIM	10	SDHB, SLC19A1, MTHFR, SDHC, FOLR1, MTRR, KIT, PDGFRA, SHMT1, MTR

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
Cyanoamino acid metabolism	hsa00460	9.6
One carbon pool by folate	hsa00670	8.52
Metabolic pathways	hsa01100	2.49
Glyoxylate and dicarboxylate metabolism	hsa00630	8.07
Biosynthesis of amino acids	hsa01230	6.58
Carbon metabolism	hsa01200	6.03
Glycine, serine and threonine metabolism	hsa00260	7.45

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Carnitine synthesis	R-HSA-71262	10.98
Metabolism of folate and pterines	R-HSA-196757	9.81
Metabolism of amino acids and derivatives	R-HSA-71291	5.4
Metabolism	R-HSA-1430728	2.34
Metabolism of vitamins and cofactors	R-HSA-196854	6.54
Metabolism of water-soluble vitamins and cofactors	R-HSA-196849	6.54

Associated GO terms for Molecular function

GO term	GO ID	GO IC
carbon-carbon lyase activity	GO:0016830	5.81
exopeptidase activity	GO:0008238	5.07
binding	GO:0005488	0.18
methyltransferase activity	GO:0008168	4.35
peptidase activity	GO:0008233	3.23
amino acid binding	GO:0016597	5.71
threonine aldolase activity	GO:0004793	9.05
anion binding	GO:0043168	4.17
lyase activity	GO:0016829	4.53
ion binding	GO:0043167	1.36
hydroxymethyl-, formyl- and related transferase activity	GO:0016742	7.66
transferase activity	GO:0016740	1.95
transferase activity, transferring one-carbon groups	GO:0016741	4.3
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16
hydrolase activity	GO:0016787	1.9
omega peptidase activity	GO:0008242	6.91
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
cofactor binding	GO:0048037	4.16
serine binding	GO:0070905	8.64
L-allo-threonine aldolase activity	GO:0008732	9.05
glycine hydroxymethyltransferase activity	GO:0004372	9.05
organic acid binding	GO:0043177	6.6
carboxylic acid binding	GO:0031406	4.64
aldehyde-lyase activity	GO:0016832	7.54
peptidase activity, acting on L-amino acid peptides	GO:0070011	3.26
protein binding	GO:0005515	0.46
protein dimerization activity	GO:0046983	2.72
pyridoxal phosphate binding	GO:0030170	5.83