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Aliases for GCLC Gene

Aliases for GCLC Gene

  • Glutamate-Cysteine Ligase Catalytic Subunit 2 3
  • Glutamate-Cysteine Ligase, Catalytic Subunit 2 3 5
  • Gamma-Glutamylcysteine Synthetase 3 4
  • GCS Heavy Chain 3 4
  • EC 6.3.2.2 4 63
  • Gamma-ECS 3 4
  • GLCLC 3 4
  • GLCL 3 4
  • GCL 3
  • GCS 3

External Ids for GCLC Gene

Previous HGNC Symbols for GCLC Gene

  • GLCLC
  • 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 Sulfur amino acid metabolism and Glutathione metabolism. GO annotations related to this gene include protein heterodimerization activity and coenzyme 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

Enhancers for GCLC Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GCLC on UCSC Golden Path with GeneCards custom track

Promoters for GCLC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GCLC on UCSC Golden Path with GeneCards custom track

Genomic Location for GCLC Gene

Chromosome:
6
Start:
53,497,341 bp from pter
End:
53,616,970 bp from pter
Size:
119,630 bases
Orientation:
Minus strand

Genomic View for GCLC Gene

Genes around GCLC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GCLC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P48506-GSH1_HUMAN
    Recommended name:
    Glutamate--cysteine ligase catalytic subunit
    Protein Accession:
    P48506
    Secondary Accessions:
    • Q14399

    Protein attributes for GCLC Gene

    Size:
    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

Antibody Products

Domains & Families for GCLC Gene

Protein Domains for GCLC Gene

Graphical View of Domain Structure for InterPro Entry

P48506

UniProtKB/Swiss-Prot:

GSH1_HUMAN :
  • Belongs to the glutamate--cysteine ligase type 3 family.
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:0005524 ATP binding IEA --
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

Human Phenotype Ontology for GCLC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GCLC Gene

MGI Knock Outs for GCLC:

Animal Model Products

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

Localization for GCLC Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GCLC Gene COMPARTMENTS Subcellular localization image for GCLC gene
Compartment Confidence
cytosol 5
mitochondrion 3
nucleus 3
chloroplast 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GCLC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA,TAS --
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 & Interactions for GCLC Gene

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

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 2294991
GO:0006749 glutathione metabolic process IEA --
GO:0006805 xenobiotic metabolic process TAS --
genes like me logo Genes that share ontologies with GCLC: view

No data available for SIGNOR curated interactions for GCLC Gene

Drugs & Compounds for GCLC Gene

(13) Drugs for GCLC Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Cysteine Approved Nutra Target 0
Vitamin E Approved Nutra Enzyme, inducer 382,385
Sulfamethoxazole Approved Pharma 154
Famotidine Approved Pharma Histamine H2-receptor antagonist 57
Adenosine triphosphate Approved Nutra 0

(11) Additional Compounds for GCLC Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
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:

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
GCLC
ECgene alternative splicing isoforms for
GCLC

Expression for GCLC Gene

mRNA expression in normal human tissues for GCLC Gene

Protein differential expression in normal tissues from HIPED for GCLC Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GCLC: view

Protein tissue co-expression partners for GCLC Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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
cow
(Bos Taurus)
Mammalia GCLC 35
  • 86.12 (n)
  • 93.39 (a)
GCLC 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GCLC 35
  • 92.99 (n)
  • 97.17 (a)
GCLC 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gclc 35
  • 88.57 (n)
  • 94.65 (a)
Gclc 16
Gclc 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GCLC 35
  • 99.9 (n)
  • 99.84 (a)
GCLC 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gclc 35
  • 88.91 (n)
  • 94.19 (a)
oppossum
(Monodelphis domestica)
Mammalia GCLC 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GCLC 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves GCLC 35
  • 80.11 (n)
  • 91.55 (a)
GCLC 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GCLC 36
  • 88 (a)
OneToOne
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
zebrafish
(Danio rerio)
Actinopterygii gclc 35
  • 74 (n)
  • 82.46 (a)
gclc 36
  • 82 (a)
OneToOne
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)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001512 35
  • 58.22 (n)
  • 63.07 (a)
worm
(Caenorhabditis elegans)
Secernentea gcs-1 36
  • 53 (a)
OneToOne
gcs-1 35
  • 56.88 (n)
  • 56.18 (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 36
  • 41 (a)
OneToOne
GSH1 38
GSH1 35
  • 53.51 (n)
  • 47.96 (a)
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)
OneToMany
-- 36
  • 49 (a)
OneToMany
CSA.10402 36
  • 55 (a)
OneToMany
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

ENSEMBL:
Gene Tree for GCLC (if available)
TreeFam:
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
VAR_013514 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD)
rs2066512 - 53,522,514(-) CATGT(C/T)GGTAT reference, missense
VAR_015403 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD)
VAR_021100 -
VAR_021110 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD)

Variation tolerance for GCLC Gene

Residual Variation Intolerance Score: 25.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.08; 38.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GCLC Gene

HapMap Linkage Disequilibrium report
GCLC
Human Gene Mutation Database (HGMD)
GCLC

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

MalaCards: The human disease database

(9) MalaCards diseases for GCLC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
  • haggsd
gamma-glutamylcysteine synthetase deficiency
  • glutamate-cysteine ligase deficiency
myocardial infarction
  • myocardial infarction, protection against
hemolytic anemia
  • anemia hemolytic
diabetic encephalopathy
- elite association - COSMIC cancer census association via MalaCards
Search GCLC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GSH1_HUMAN
  • 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.

Relevant External Links for GCLC

Genetic Association Database (GAD)
GCLC
Human Genome Epidemiology (HuGE) Navigator
GCLC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GCLC
genes like me logo Genes that share disorders with GCLC: view

No data available for 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 67
  2. Application of metabolic flux analysis to identify the mechanisms of free fatty acid toxicity to human hepatoma cell line. (PMID: 17615559) Srivastava S. … Chan C. (Biotechnol. Bioeng. 2008) 23 25 26
  3. Association of polymorphisms of glutamate-cystein ligase and microsomal triglyceride transfer protein genes in non-alcoholic fatty liver disease. (PMID: 19817962) Oliveira C.P. … CorrA-a-Giannella M.L. (J. Gastroenterol. Hepatol. 2010) 3 23
  4. I+-Tocopherol is an effective Phase II enzyme inducer: protective effects on acrolein-induced oxidative stress and mitochondrial dysfunction in human retinal pigment epithelial cells. (PMID: 20153624) Feng Z. … Liu J. (J. Nutr. Biochem. 2010) 25 26
  5. Genetic background of lead and mercury metabolism in a group of medical students in Austria. (PMID: 19515364) Gundacker C. … Gencik M. (Environ. Res. 2009) 3 23

Products for GCLC Gene

Sources for GCLC Gene

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