GCLC (glutamate-cysteine ligase catalytic subunit)

2007-02-01  

Identity

HGNC
GCLC
LOCATION
6p12.1
LOCUSID
2729
ALIAS
GCL,GCS,GLCL,GLCLC
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2729
MIM: 606857
HGNC: 4311
Ensembl: ENSG00000001084

Variants:

dbSNP: 2729
ClinVar: 2729
TCGA: ENSG00000001084
COSMIC: GCLC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000001084ENST00000504525D6RGF8
ENSG00000001084ENST00000505197D6RIT4
ENSG00000001084ENST00000509541A0A2R8Y648
ENSG00000001084ENST00000513939E1CEI4
ENSG00000001084ENST00000514004A0A0C4DGB2
ENSG00000001084ENST00000616923B4E2I4
ENSG00000001084ENST00000643939A0A2R8YEL6
ENSG00000001084ENST00000650454P48506
ENSG00000001084ENST00000650454Q14TF0

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glutathione metabolismKEGGko00480
Glutathione metabolismKEGGhsa00480
Cysteine and methionine metabolismKEGGko00270
Cysteine and methionine metabolismKEGGhsa00270
Metabolic pathwaysKEGGhsa01100
Glutathione biosynthesis, glutamate => glutathioneKEGGhsa_M00118
Glutathione biosynthesis, glutamate => glutathioneKEGGM00118
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Sulfur amino acid metabolismREACTOMER-HSA-1614635
Biological oxidationsREACTOMER-HSA-211859
Phase II conjugationREACTOMER-HSA-156580
Glutathione conjugationREACTOMER-HSA-156590
Glutathione synthesis and recyclingREACTOMER-HSA-174403
FerroptosisKEGGko04216
FerroptosisKEGGhsa04216

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447230HIVDiseaseClinicalAnnotationassociatedPD22824134
PA451544sulfamethoxazoleChemicalClinicalAnnotationassociatedPD22824134

References

Pubmed IDYearTitleCitations
179212512007Impaired glutathione synthesis in schizophrenia: convergent genetic and functional evidence.94
206597892010Common variants conferring risk of schizophrenia: a pathway analysis of GWAS data.85
215555182011The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.60
154510552004Human glutamate cysteine ligase gene regulation through the electrophile response element.55
125980622003Association of polymorphism in glutamate-cysteine ligase catalytic subunit gene with coronary vasomotor dysfunction and myocardial infarction.37
224529202012Identifying microRNA/mRNA dysregulations in ovarian cancer.35
237703632013Vitamin D upregulates glutamate cysteine ligase and glutathione reductase, and GSH formation, and decreases ROS and MCP-1 and IL-8 secretion in high-glucose exposed U937 monocytes.34
185605282008Genetic variation in glutathione-related genes and body burden of methylmercury.33
271179412016Melatonin enhances mitochondrial ATP synthesis, reduces reactive oxygen species formation, and mediates translocation of the nuclear erythroid 2-related factor 2 resulting in activation of phase-2 antioxidant enzymes (γ-GCS, HO-1, NQO1) in ultraviolet radiation-treated normal human epidermal keratinocytes (NHEK).33
171096202006NRF2-dependent glutamate-L-cysteine ligase catalytic subunit expression mediates insulin protection against hyperglycemia- induced brain endothelial cell apoptosis.32

Citation

Dessen P

GCLC (glutamate-cysteine ligase catalytic subunit)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46590/gclc-(glutamate-cysteine-ligase-catalytic-subunit)