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Aliases for GCLC Gene

Aliases for GCLC Gene

  • Glutamate-Cysteine Ligase, Catalytic Subunit 2 3
  • GLCLC 3 4 6
  • Gamma-Glutamylcysteine Synthetase 3 4
  • GCS Heavy Chain 3 4
  • EC 4 63
  • Gamma-ECS 3 4
  • GLCL 3 4
  • Glutamate--Cysteine Ligase Catalytic Subunit 3
  • GCL 3
  • GCS 3

External Ids for GCLC Gene

Previous HGNC Symbols for GCLC Gene

  • GLCL

Previous GeneCards Identifiers for GCLC Gene

  • GC06M053365
  • GC06M053408
  • GC06M053409
  • GC06M053470
  • GC06M053193

Summaries for GCLC Gene

Entrez Gene Summary for GCLC Gene

  • 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]

GeneCards Summary for GCLC Gene

GCLC (Glutamate-Cysteine Ligase, Catalytic Subunit) is a Protein Coding gene. Diseases associated with GCLC include hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency and gamma-glutamylcysteine synthetase deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein heterodimerization activity and ADP binding.

Gene Wiki entry for GCLC Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GCLC Gene

Genomics for GCLC Gene

Regulatory Elements for GCLC Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GCLC Gene

53,497,341 bp from pter
53,616,970 bp from pter
119,630 bases
Minus strand

Genomic View for GCLC Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GCLC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GCLC Gene

Proteins for GCLC Gene

  • Protein details for GCLC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Glutamate--cysteine ligase catalytic subunit
    Protein Accession:
    Secondary Accessions:
    • Q14399

    Protein attributes for GCLC Gene

    637 amino acids
    Molecular mass:
    72766 Da
    Quaternary structure:
    • Heterodimer of a catalytic heavy chain and a regulatory light chain

neXtProt entry for GCLC Gene

Proteomics data for GCLC Gene at MOPED

Post-translational modifications for GCLC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GCLC Gene

Antibody Products

Domains for GCLC Gene

Protein Domains for GCLC Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glutamate--cysteine ligase type 3 family.
  • Belongs to the glutamate--cysteine ligase type 3 family.
genes like me logo Genes that share domains with GCLC: view

No data available for Gene Families for GCLC Gene

Function for GCLC Gene

Molecular function for GCLC Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-glutamate + L-cysteine = ADP + phosphate + gamma-L-glutamyl-L-cysteine
UniProtKB/Swiss-Prot EnzymeRegulation:
Feedback inhibition by glutathione

Enzyme Numbers (IUBMB) for GCLC Gene

Gene Ontology (GO) - Molecular Function for GCLC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 24639
GO:0004357 glutamate-cysteine ligase activity IMP 16183645
GO:0005524 ATP binding IEA --
GO:0016595 glutamate binding IDA 9841880
GO:0043531 ADP binding IDA 24639
genes like me logo Genes that share ontologies with GCLC: view
genes like me logo Genes that share phenotypes with GCLC: view

Animal Models for GCLC Gene

MGI Knock Outs for GCLC:

miRNA for GCLC Gene

miRTarBase miRNAs that target GCLC

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GCLC

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for GCLC Gene

Localization for GCLC Gene

Subcellular locations from

Jensen Localization Image for GCLC Gene COMPARTMENTS Subcellular localization image for GCLC gene
Compartment Confidence
cytosol 4
mitochondrion 2
nucleus 2
chloroplast 1
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GCLC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0017109 glutamate-cysteine ligase complex IBA --
genes like me logo Genes that share ontologies with GCLC: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GCLC Gene

Pathways for GCLC Gene

genes like me logo Genes that share pathways with GCLC: view

Pathways by source for GCLC Gene

PCR Array Products

UniProtKB/Swiss-Prot P48506-GSH1_HUMAN

  • Pathway: Sulfur metabolism; glutathione biosynthesis; glutathione from L-cysteine and L-glutamate: step 1/2

Gene Ontology (GO) - Biological Process for GCLC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000096 sulfur amino acid metabolic process TAS --
GO:0006534 cysteine metabolic process IDA 2294991
GO:0006536 glutamate metabolic process IDA 12663448
GO:0006749 glutathione metabolic process --
GO:0006750 glutathione biosynthetic process TAS --
genes like me logo Genes that share ontologies with GCLC: view

Drugs for GCLC Gene

(3) Drugbank Compounds for GCLC Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
  • (2R)-2-amino-3-mercaptopropanoic acid
52-90-4 Target approved, nutraceutical
Vitamin E
  • (+)-alpha-tocopherol
59-02-9 14985 Enzyme inducer approved, nutraceutical
L-Glutamic Acid
  • (2S)-2-Aminopentanedioic acid
56-86-0 33032 Target nutraceutical

(9) HMDB Compounds for GCLC Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(Tetrahydrogen triphosphate) Adenosine
  • Adenosindiphosphorsaeure
  • (+)-a-Tocopherol
  • Gastridan
  • (Des-Gly)-Glutathione

(15) Novoseek inferred chemical compound relationships for GCLC Gene

Compound -log(P) Hits PubMed IDs
gamma-glutamylcysteine 95.1 56
tbhq 75.5 4
4-hydroxynonenal 66.8 6
beta-naphthoflavone 65.9 4
buthionine sulfoximine 63.3 3

(1) PharmGKB related drug/compound annotations for GCLC Gene

Drug/compound Annotation
genes like me logo Genes that share compounds with GCLC: view

Transcripts for GCLC Gene

Unigene Clusters for GCLC Gene

Glutamate-cysteine ligase, catalytic subunit:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GCLC

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GCLC Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17
SP1: - - - - - - -
SP2: - -
SP3: -
SP4: -
SP5: -
SP6: - - - - - - -
SP7: -
SP8: -

Relevant External Links for GCLC Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GCLC Gene

mRNA expression in normal human tissues for GCLC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for GCLC Gene

This gene is overexpressed in Lymph node (9.9) and Spleen (6.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GCLC Gene

SOURCE GeneReport for Unigene cluster for GCLC Gene Hs.654465

genes like me logo Genes that share expressions with GCLC: view

Expression partners for GCLC Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GCLC Gene

Orthologs for GCLC Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GCLC Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia GCLC 35
  • 86.12 (n)
  • 93.39 (a)
  • 93 (a)
(Canis familiaris)
Mammalia GCLC 35
  • 92.99 (n)
  • 97.17 (a)
  • 97 (a)
(Mus musculus)
Mammalia Gclc 35
  • 88.57 (n)
  • 94.65 (a)
Gclc 16
Gclc 36
  • 95 (a)
(Pan troglodytes)
Mammalia GCLC 35
  • 99.9 (n)
  • 99.84 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Gclc 35
  • 88.91 (n)
  • 94.19 (a)
(Monodelphis domestica)
Mammalia GCLC 36
  • 90 (a)
(Ornithorhynchus anatinus)
Mammalia GCLC 36
  • 90 (a)
(Gallus gallus)
Aves GCLC 35
  • 80.11 (n)
  • 91.55 (a)
  • 91 (a)
(Anolis carolinensis)
Reptilia GCLC 36
  • 88 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gclc 35
  • 75.88 (n)
  • 85.62 (a)
Str.15467 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.3837 35
(Danio rerio)
Actinopterygii gclc 35
  • 74 (n)
  • 82.46 (a)
gclc 36
  • 82 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8363 35
fruit fly
(Drosophila melanogaster)
Insecta Gclc 37
  • 62 (a)
Gclc 35
  • 57.92 (n)
  • 59.01 (a)
Gclc 36
  • 52 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001512 35
  • 58.22 (n)
  • 63.07 (a)
(Caenorhabditis elegans)
Secernentea gcs-1 35
  • 56.88 (n)
  • 56.18 (a)
gcs-1 36
  • 53 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR086C 35
  • 51.85 (n)
  • 48.03 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F14058g 35
  • 53.3 (n)
  • 49.31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GSH1 35
  • 53.51 (n)
  • 47.96 (a)
GSH1 36
  • 41 (a)
GSH1 38
bread mold
(Neurospora crassa)
Ascomycetes NCU01157 35
  • 53.58 (n)
  • 50.83 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gcs1 35
  • 55.4 (n)
  • 52.9 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
-- 36
  • 49 (a)
CSA.10402 36
  • 55 (a)
Species with no ortholog for GCLC:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GCLC Gene

Gene Tree for GCLC (if available)
Gene Tree for GCLC (if available)

Paralogs for GCLC Gene

No data available for Paralogs for GCLC Gene

Variants for GCLC Gene

Sequence variations from dbSNP and Humsavar for GCLC Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs58914529 -- 53,508,083(+) TGTTC(A/G)GGTCC intron-variant
rs75177295 -- 53,532,286(+) CTCTC(C/T)CGACT intron-variant
rs75182600 -- 53,526,304(+) GCGAT(A/G)TAAGT intron-variant
rs75251208 -- 53,530,706(+) GTGTC(A/G)TTTTG intron-variant
rs75304377 -- 53,534,574(+) GAAAC(A/G)GGGGA intron-variant

Relevant External Links for GCLC Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GCLC Gene

Disorders for GCLC Gene

(2) OMIM Diseases for GCLC Gene (606857)


  • Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) [MIM:230450]: A disease characterized by hemolytic anemia, glutathione deficiency, myopathy, late-onset spinocerebellar degeneration, and peripheral neuropathy. {ECO:0000269 PubMed:10515893, ECO:0000269 PubMed:10733484, ECO:0000269 PubMed:12663448}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(6) Novoseek inferred disease relationships for GCLC Gene

Disease -log(P) Hits PubMed IDs
anemia hemolytic 29.4 2
prostate carcinoma 8.25 2
hepatocellular carcinoma 5.08 1
cancer 4.55 2
metastasis 0 1

Relevant External Links for GCLC

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with GCLC: view

No data available for University of Copenhagen DISEASES and Genatlas for GCLC Gene

Publications for GCLC Gene

  1. Cloning and nucleotide sequence of a full-length cDNA for human liver gamma-glutamylcysteine synthetase. (PMID: 1350904) Gipp J.J. … Mulcahy R.T. (Biochem. Biophys. Res. Commun. 1992) 2 3 4 23
  2. The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency. (PMID: 10515893) Beutler E. … Matsunaga A.T. (Blood 1999) 3 4 23
  3. Association of polymorphism in glutamate-cysteine ligase catalytic subunit gene with coronary vasomotor dysfunction and myocardial infarction. (PMID: 12598062) Koide S. … Ogawa H. (J. Am. Coll. Cardiol. 2003) 3 23 48
  4. Variants in the glutamate-cysteine-ligase gene are associated with cystic fibrosis lung disease. (PMID: 16690975) McKone E.F. … Kavanagh T.J. (Am. J. Respir. Crit. Care Med. 2006) 3 23 48
  5. Genetic analysis of CC16, OGG1 and GCLC polymorphisms and susceptibility to COPD. (PMID: 17207022) Liu S. … Ran P. (Respirology 2007) 3 23 48

Products for GCLC Gene

Sources for GCLC Gene

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