GCLC - glutamate-cysteine ligase catalytic subunit Gene
Also Known as GCL; GCS; GLCL; GLCLC
Species: Homo sapiens
About GCLC
This gene has 14 transcripts (splice variants), 219 orthologues and is associated with 4 phenotypes. Ubiquitous expression in liver (RPKM 39.8), urinary bladder (RPKM 19.1) and 24 other tissues.
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. This locus encodes the catalytic subunit, while the regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Mutations at this locus have been associated with hemolytic anemia due to deficiency of gamma-glutamylcysteine synthetase and susceptibility to myocardial infarction.[provided by RefSeq, Oct 2010]
GCLC Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001197115.2 | NP_001184044.1 | glutamate--cysteine ligase catalytic subunit isoform b |
| NM_001498.4 | NP_001489.1 | glutamate--cysteine ligase catalytic subunit isoform a |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables ADP binding |
IDA
IDA: Inferred from direct assay
|
24639 | GOA |
| enables glutamate binding |
IDA
IDA: Inferred from direct assay
|
9841880 | GOA |
| enables glutamate-cysteine ligase activity |
IDA
IDA: Inferred from direct assay
|
8104187 | GOA |
| enables glutamate-cysteine ligase activity |
IMP
IMP: Inferred from mutant phenotype
|
9841880 | GOA |
| enables magnesium ion binding |
IDA
IDA: Inferred from direct assay
|
24639 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
9675072 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of glutamate-cysteine ligase complex |
IDA
IDA: Inferred from direct assay
|
9675072 | GOA |
GCLC Protein Structure
GCS: Glutamate-cysteine ligase (236 - 610)
- 0
- 100
- 200
- 300
- 400
- 500
- 600
- 637 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
glutamate--cysteine ligase catalytic subunit |
|
GCLC Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
GCLC | P48506 | GCLM | Homo sapiens | P48507 | 28514442 | |
|
Intra
|
GCLC | P48506 | GCLM | Homo sapiens | P48507 | 33961781 |
GCLC Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83153 | GCLC Antibody (YA2898) | WB | Human, Mouse, Rat |
| HY-P83153A | GCLC Antibody (YA2898)(PBS only) | WB | Human, Mouse, Rat |
| HY-P86305 | GCLC Antibody (YA5997) | WB, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
|
| Glutamate-Cysteine Ligase Deficiency |
|
|
| Myocardial Infarction |
|
|
| Hemolytic Anemia |
|
|
| Cystic Fibrosis |
|
|
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
|
| Lung Disease |
|
|
| Ovarian Cancer |
|
|
| Co-Trimoxazole Allergy |
|
|
| Intravascular Fasciitis |
|
|
| Myopathy |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | GCLC | VGNC | VGNC:72923 |
| Canis familiaris | GCLC | VGNC | VGNC:41147 |
| Mus musculus | GCLC | MGD | MGI:104990 |
| Rattus norvegicus | GCLC | RGD | RGD:619868 |
| Bos taurus | GCLC | VGNC | VGNC:29289 |
| Felis catus | GCLC | VGNC | VGNC:62494 |
| Others | GCLC | NCBI |