GCLC - glutamate-cysteine ligase catalytic subunit Gene

Also Known as GCL; GCS; GLCL; GLCLC

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2729

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
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
Biological Process GO Annotation Evidence References 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 References 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

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

  • GCS heavy chain

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
Cross: Cross-species interaction Intra: Intraspecies interaction

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
  • 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

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