Gene table of OPLAH : 5-oxoprolinase (ATP-hydrolysing)

Gene-disease associations table

Disease ID	Disease name	Source of annotation with OPLAH	OMIM link	Number of associated genes	genes
260005	5-OXOPROLINASE DEFICIENCY	ClinVar, OMIM	link to OMIM	1	OPLAH

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
Glutathione metabolism	hsa00480	6.96

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Biological oxidations	R-HSA-211859	5.55
Glutathione conjugation	R-HSA-156590	7.98
Phase II conjugation	R-HSA-156580	6.52
Diseases of metabolism	R-HSA-5668914	6.57
Glutathione synthesis and recycling	R-HSA-174403	9.52
Metabolism	R-HSA-1430728	2.34
Metabolic disorders of biological oxidation enzymes	R-HSA-5579029	7.85
Defective OPLAH causes 5-oxoprolinase deficiency (OPLAHD)	R-HSA-5578998	12.98
Disease	R-HSA-1643685	3.33

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
5-oxoprolinase (ATP-hydrolyzing) activity	GO:0017168	9.74
binding	GO:0005488	0.18
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
nucleotide binding	GO:0000166	1.96
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
ATP binding	GO:0005524	2.43
hydrolase activity	GO:0016787	1.9
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
adenyl nucleotide binding	GO:0030554	2.4
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	GO:0016812	7.79
organic cyclic compound binding	GO:0097159	1.05
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	GO:0016810	4.76
carbohydrate derivative binding	GO:0097367	2.03
adenyl ribonucleotide binding	GO:0032559	2.41
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19