Gene table of PGK1 : phosphoglycerate kinase 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PGK1	OMIM link	Number of associated genes	genes
300653	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	PGK1

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
Biosynthesis of amino acids	hsa01230	6.58
Carbon metabolism	hsa01200	6.03
Metabolic pathways	hsa01100	2.49
Glycolysis / Gluconeogenesis	hsa00010	6.64
HIF-1 signaling pathway	hsa04066	5.9

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Gluconeogenesis	R-HSA-70263	8.03
Glycolysis	R-HSA-70171	8.03
Metabolism	R-HSA-1430728	2.34
Metabolism of carbohydrates	R-HSA-71387	4.93
Glucose metabolism	R-HSA-70326	6.77

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
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
phosphoglycerate kinase activity	GO:0004618	9.05
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
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
phosphotransferase activity, carboxyl group as acceptor	GO:0016774	8.35
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
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