Gene table of TPK1 : thiamin pyrophosphokinase 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with TPK1	OMIM link	Number of associated genes	genes
PS249270	THIAMINE-RESPONSIVE DYSFUNCTION SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	4	SLC19A3, TPK1, SLC25A19, SLC19A2

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
Thiamine metabolism	hsa00730	10.45
Metabolic pathways	hsa01100	2.49

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Vitamin B1 (thiamin) metabolism	R-HSA-196819	10.98
Metabolism of vitamins and cofactors	R-HSA-196854	6.54
Metabolism of water-soluble vitamins and cofactors	R-HSA-196849	6.54
Metabolism	R-HSA-1430728	2.34

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
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
sulfur compound binding	GO:1901681	4.32
thiamine binding	GO:0030975	9.74
nucleotide binding	GO:0000166	1.96
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
ATP binding	GO:0005524	2.43
kinase activity	GO:0016301	2.93
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
thiamine diphosphokinase activity	GO:0004788	9.74
diphosphotransferase activity	GO:0016778	7.79
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
vitamin binding	GO:0019842	5.34
adenyl ribonucleotide binding	GO:0032559	2.41
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19