Gene table of GALK1 : galactokinase 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with GALK1	OMIM link	Number of associated genes	genes
230200	GALACTOKINASE DEFICIENCY	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	GALK1

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
Metabolic pathways	hsa01100	2.49
Galactose metabolism	hsa00052	7.72
Amino sugar and nucleotide sugar metabolism	hsa00520	7.15

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Defective GALK1 can cause Galactosemia II (GALCT2)	R-HSA-5609976	12.98
Diseases associated with glycosylation precursor biosynthesis	R-HSA-5609975	9.08
Metabolism	R-HSA-1430728	2.34
Diseases of glycosylation	R-HSA-3781865	6.89
Galactose catabolism	R-HSA-70370	10.66
Disease	R-HSA-1643685	3.33
Metabolism of carbohydrates	R-HSA-71387	4.93

Associated GO terms for Molecular function

GO term	GO ID	GO IC
carbohydrate kinase activity	GO:0019200	6.74
purine ribonucleoside triphosphate binding	GO:0035639	2.22
carbohydrate binding	GO:0030246	4.17
monosaccharide binding	GO:0048029	5.85
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
galactose binding	GO:0005534	8.35
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
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
purine ribonucleoside binding	GO:0032550	2.22
galactokinase activity	GO:0004335	9.05
adenyl ribonucleotide binding	GO:0032559	2.41
organic cyclic compound binding	GO:0097159	1.05
purine ribonucleotide binding	GO:0032555	2.2
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
ribonucleotide binding	GO:0032553	2.19
binding	GO:0005488	0.18