Gene table of GCLC : glutamate-cysteine ligase catalytic subunit

Gene-disease associations table

Disease ID	Disease name	Source of annotation with GCLC	OMIM link	Number of associated genes	genes
608446	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	OMIM	link to OMIM	14	LTA, ACE, ITGB3, OLR1, GCLC, ESR1, GCLM, LGALS2, MIAT, LRP8, F7, PSMA6, F13A1, TNFSF4
230450	GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM, HUMSAVAR	link to OMIM	1	GCLC

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
Glutathione metabolism	hsa00480	6.96

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Biological oxidations	R-HSA-211859	5.55
Metabolism of amino acids and derivatives	R-HSA-71291	5.4
Sulfur amino acid metabolism	R-HSA-1614635	8.46
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 GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD)	R-HSA-5578999	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
acid-amino acid ligase activity	GO:0016881	6.69
binding	GO:0005488	0.18
purine nucleoside binding	GO:0001883	2.22
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
anion binding	GO:0043168	4.17
coenzyme binding	GO:0050662	4.53
magnesium ion binding	GO:0000287	4.41
ion binding	GO:0043167	1.36
glutamate binding	GO:0016595	7.54
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
cation binding	GO:0043169	1.4
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
cofactor binding	GO:0048037	4.16
ADP binding	GO:0043531	6.24
ligase activity	GO:0016874	3.72
ligase activity, forming carbon-nitrogen bonds	GO:0016879	5.7
carbohydrate derivative binding	GO:0097367	2.03
glutamate-cysteine ligase activity	GO:0004357	9.05
adenyl nucleotide binding	GO:0030554	2.4
carboxylic acid binding	GO:0031406	4.64
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
organic cyclic compound binding	GO:0097159	1.05
purine ribonucleotide binding	GO:0032555	2.2
protein dimerization activity	GO:0046983	2.72
protein heterodimerization activity	GO:0046982	3.64
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19