GCLM
Summary: Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase, is the first rate limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. Gamma glutamylcysteine synthetase deficiency has been implicated in some forms of hemolytic anemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| glutamate-cysteine ligase modifier subunit | MIM:601176 | Ensembl:ENSG00000023909 | HGNC:HGNC:4312 | PA28613 | 1p22.1 |
Gene Categories:
DRUG RESISTANCEGO terms in GCLM
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0004357 | glutamate-cysteine ligase activity |
| MF | IMP | GO:0004357 | glutamate-cysteine ligase activity |
| MF | IBA | GO:0030234 | enzyme regulator activity |
| MF | IPI | GO:0035226 | glutamate-cysteine ligase catalytic subunit binding |
| MF | IEA | GO:0046982 | protein heterodimerization activity |
| BP | IEA | GO:0006534 | cysteine metabolic process |
| BP | IDA | GO:0006536 | glutamate metabolic process |
| BP | IBA | GO:0006750 | glutathione biosynthetic process |
| BP | IDA | GO:0006750 | glutathione biosynthetic process |
| BP | IEA | GO:0006750 | glutathione biosynthetic process |
| BP | IMP | GO:0006750 | glutathione biosynthetic process |
| BP | IDA | GO:0006979 | response to oxidative stress |
| BP | IEA | GO:0007568 | aging |
| BP | IEA | GO:0007584 | response to nutrient |
| BP | IEA | GO:0008637 | apoptotic mitochondrial changes |
| BP | IEA | GO:0014823 | response to activity |
| BP | IBA | GO:0035229 | positive regulation of glutamate-cysteine ligase activity |
| BP | IEA | GO:0035729 | cellular response to hepatocyte growth factor stimulus |
| BP | IEA | GO:0035733 | hepatic stellate cell activation |
| BP | IDA | GO:0042493 | response to drug |
| BP | IEA | GO:0043524 | negative regulation of neuron apoptotic process |
| BP | IEA | GO:0044344 | cellular response to fibroblast growth factor stimulus |
| BP | IEA | GO:0044752 | response to human chorionic gonadotropin |
| BP | IMP | GO:0050880 | regulation of blood vessel size |
| BP | IEA | GO:0051409 | response to nitrosative stress |
| BP | IEA | GO:0051900 | regulation of mitochondrial depolarization |
| BP | IEA | GO:0071333 | cellular response to glucose stimulus |
| BP | IEA | GO:0071372 | cellular response to follicle-stimulating hormone stimulus |
| BP | IEA | GO:0097069 | cellular response to thyroxine stimulus |
| BP | IEA | GO:1990830 | cellular response to leukemia inhibitory factor |
| BP | IEA | GO:2001237 | negative regulation of extrinsic apoptotic signaling pathway |
| CC | NAS | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IBA | GO:0017109 | glutamate-cysteine ligase complex |
Gene expression in normal tissue: GCLM
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GCLM
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-156580 | Phase II - Conjugation of compounds |
| reactome | R-HSA-156590 | Glutathione conjugation |
| reactome | R-HSA-174403 | Glutathione synthesis and recycling |
| reactome | R-HSA-211859 | Biological oxidations |
| smpdb | SMP00013 | Cysteine Metabolism |
| smpdb | SMP00015 | Glutathione Metabolism |
| smpdb | SMP00072 | Glutamate Metabolism |
| smpdb | SMP00136 | 2-Hydroxyglutric Aciduria (D And L Form) |
| smpdb | SMP00143 | 5-Oxoprolinuria |
| smpdb | SMP00183 | Gamma-Glutamyltransferase Deficiency |
| smpdb | SMP00243 | 4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency |
| smpdb | SMP00337 | Glutathione Synthetase Deficiency |
| smpdb | SMP00339 | Hyperinsulinism-Hyperammonemia Syndrome |
| smpdb | SMP00385 | Homocarnosinosis |
| smpdb | SMP00499 | Beta-mercaptolactate-cysteine disulfiduria |
| smpdb | SMP00500 | 5-oxoprolinase deficiency |
| smpdb | SMP00501 | Gamma-glutamyl-transpeptidase deficiency |
| smpdb | SMP00567 | Succinic semialdehyde dehydrogenase deficiency |
| smpdb | SMP00722 | Cystinosis, ocular nonnephropathic |
| wikipathways | WP100 | Glutathione metabolism |
| wikipathways | WP2333 | Trans-sulfuration pathway |
| wikipathways | WP2525 | Trans-sulfuration and one carbon metabolism |
| wikipathways | WP2882 | Nuclear Receptors Meta-Pathway |
| wikipathways | WP2884 | NRF2 pathway |
| wikipathways | WP3 | Transcriptional activation by NRF2 |
| wikipathways | WP3612 | Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling |
| wikipathways | WP3925 | Amino Acid metabolism |
| wikipathways | WP3940 | One carbon metabolism and related pathways |
| kegg | hsa00270 | Cysteine and methionine metabolism - Homo sapiens (human) |
| kegg | hsa00480 | Glutathione metabolism - Homo sapiens (human) |
| kegg | hsa04216 | Ferroptosis - Homo sapiens (human) |
| humancyc | GLUTATHIONESYN-PWY | glutathione biosynthesis |
| humancyc | PWY-4041 | γ-glutamyl cycle |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GCLM
CLASSFICATION
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