GCLC - glutamate-cysteine ligase catalytic subunit Gene

Homo sapiens

Also known as GCL; GCS; GLCL; GLCLC

Gene ID: 2729 | Gene type: protein coding

About GCLC

Cytogenetic location: 6p12.1 Genomic coordinates (GRCh38): 6:53,497,341-53,545,101 (from NCBI)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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

Biological Process GO Annotation	Evidence	Reference	Source
involved in blood vessel diameter maintenance	IMP IMP: Inferred from mutant phenotype	12598062	GOA
involved in cell redox homeostasis	IDA IDA: Inferred from direct assay	10439045	GOA
involved in cysteine metabolic process	IDA IDA: Inferred from direct assay	2294991	GOA
involved in glutamate metabolic process	IDA IDA: Inferred from direct assay	2294991	GOA
involved in glutathione biosynthetic process	IDA IDA: Inferred from direct assay	8104187	GOA
involved in glutathione biosynthetic process	IMP IMP: Inferred from mutant phenotype	12663448	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	10439045	GOA
involved in negative regulation of apoptotic process	IDA IDA: Inferred from direct assay	10439045	GOA
involved in response to heat	IDA IDA: Inferred from direct assay	8104187	GOA
involved in response to hormone	IDA IDA: Inferred from direct assay	8104187	GOA
involved in response to oxidative stress	IDA IDA: Inferred from direct assay	10395918	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of glutamate-cysteine ligase complex	IDA IDA: Inferred from direct assay	9675072	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GCLC Protein Structure

GCS

0
100
200
300
400
500
600
637 a.a.

Protein Preferred Names

Protein Names

glutamate--cysteine ligase catalytic subunit

GCS heavy chain

GCLC Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	GCLC	P48506	GCLM	Homo sapiens	P48507	Anti Tag CoIP	28514442
Intra	GCLC	P48506	GCLM	Homo sapiens	P48507	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

GCLC Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83153	GCLC Antibody (YA2898)	WB	Human, Mouse, Rat

Related Diseases

Diseases

Alias

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To

Hemolytic Anemia Due To Gamma-Glutamylcysteine Synthetase Deficiency	HAGGSD
Anemia, Hemolytic, Due To Gamma-Glutamylcysteine Synthetase Deficiency	Glutamate-Cysteine Ligase Deficiency

Glutamate-Cysteine Ligase Deficiency

Gamma-Glutamylcysteine Synthetase Deficiency	Hemolytic Anemia Due To Gamma-Glutamylcysteine Synthetase Deficiency
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To

Myocardial Infarction

Heart Attack	Myocardial Infarction, Susceptibility To
Myocardial Infarction 1	Myocardial Infarction, Protection Against
Myocardial Infarction, Decreased Susceptibility To	Myocardial Infarction, Decreased
Myocardial Infarct	MCI1
Premature Myocardial Infarction	Myocardial Infarction, Susceptibility To, Type 1

Hemolytic Anemia

Anemia, Hemolytic	Anemia Hemolytic
Anaemia Due To Other Disorders Of Glutathione Metabolism	Chronic Non Spherocytic Anaemia
G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia	Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia	Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia
Favism Anaemia	Haemolytic Anaemia Due Tog6pd Deficiency
Favism	Pentose Phosphate Pathway Disorder Anaemia
Anaemia Due To Pentose Phosphate Pathway Defect

Cystic Fibrosis

Mucoviscidosis	CF
Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis	Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
Cystic Fibrosis Lung Disease, Modifier Of	Cystic Fibrosis Of Pancreas
Fibrocystic Disease Of Pancreas	Cf - [Cystic Fibrosis]
Cystic Fibrosis Nos	Fibrocystic Disease
Fibrocystic Disease Of The Pancreas	Mucoviscidosis Of Pancreas
Nonproliferative Fibrocystic Disease	Pancreatic Cystic Fibrosis

Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy

Autosomal Dominant Adult-Onset Proximal Sma	Autosomal Dominant Late-Onset Spinal Muscular Atrophy, Finkel Type
Finkel Disease	Smafk
Adult-Onset Proximal Spinal Muscular Atrophy, Autosomal Dominant	Autosomal Dominant Adult Proximal Spinal Muscular Atrophy
Finkel Late-Adult Type Sma

Lung Disease

Lung Diseases	Disorder Of Lung
Abnormality Of The Lung

Ovarian Cancer

Ovarian Carcinoma	Ovarian Neoplasm
Malignant Tumour Of Ovary	Cancer Of The Ovary
Epithelial Ovarian Cancer	Neoplasm Of Ovary
Ovarian Neoplasms	Ovarian Cancers
Malignant Neoplasm Of Ovary	Primary Malignant Neoplasm Of Ovary
Ovarian Cancer, Somatic	Malignant Ovarian Tumor
Ovary Neoplasm	Primary Ovarian Cancer
Tumor Of The Ovary	Malignant Neoplasm Of The Ovary
Malignant Tumor Of The Ovary	Ovarian Malignant Tumor
OC	Ovarian Carcinomas
Cancer, Ovarian	Cancer Of Ovary
Ovary Cancer	Ca Ovary

Co-Trimoxazole Allergy

Bactrim Allergy	Cotrimoxazol Allergy
Tmp/Smx Allergy	Trimethoprim/Sulfamethoxazole Allergy

Intravascular Fasciitis

Intravascular Pseudosarcomatous Fasciitis

Myopathy

Muscular Diseases

Myopathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-147517	Keap1-Nrf2-IN-9	Inhibitor	98.52%	Unkown
HY-RS05333	GCLC Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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