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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Metabolic proteins Plasma proteins Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
6
Cytoband
p12.1
Chromosome location (bp)
53497341 - 53616970
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Catalyzes the ATP-dependent ligation of L-glutamate and L-cysteine and participates in the first and rate-limiting step in glutathione biosynthesis....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Ligase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Glutathione biosynthesis
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases Hematologic diseases Congenital disorders of metabolism Congenital disorders of amino acid metabolism Protein evidence (Ezkurdia et al 2014)
Metabolic proteins MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases Hematologic diseases Congenital disorders of metabolism Congenital disorders of amino acid metabolism Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases Hematologic diseases Congenital disorders of metabolism Congenital disorders of amino acid metabolism Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Ligase Metabolic proteins MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Human disease related genes Cardiovascular diseases Cardiac diseases Hematologic diseases Congenital disorders of metabolism Congenital disorders of amino acid metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0000287[magnesium ion binding] GO:0003824[catalytic activity] GO:0004357[glutamate-cysteine ligase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0006534[cysteine metabolic process] GO:0006536[glutamate metabolic process] GO:0006749[glutathione metabolic process] GO:0006750[glutathione biosynthetic process] GO:0006979[response to oxidative stress] GO:0007568[aging] GO:0007584[response to nutrient] GO:0009408[response to heat] GO:0009410[response to xenobiotic stimulus] GO:0009725[response to hormone] GO:0014823[response to activity] GO:0016595[glutamate binding] GO:0016874[ligase activity] GO:0017109[glutamate-cysteine ligase complex] GO:0019852[L-ascorbic acid metabolic process] GO:0031397[negative regulation of protein ubiquitination] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0032869[cellular response to insulin stimulus] GO:0035729[cellular response to hepatocyte growth factor stimulus] GO:0043066[negative regulation of apoptotic process] GO:0043524[negative regulation of neuron apoptotic process] GO:0043531[ADP binding] GO:0044344[cellular response to fibroblast growth factor stimulus] GO:0044752[response to human chorionic gonadotropin] GO:0044877[protein-containing complex binding] GO:0045454[cell redox homeostasis] GO:0045892[negative regulation of DNA-templated transcription] GO:0046685[response to arsenic-containing substance] GO:0046686[response to cadmium ion] GO:0051409[response to nitrosative stress] GO:0051900[regulation of mitochondrial depolarization] GO:0070555[response to interleukin-1] GO:0071260[cellular response to mechanical stimulus] GO:0071333[cellular response to glucose stimulus] GO:0071372[cellular response to follicle-stimulating hormone stimulus] GO:0097069[cellular response to thyroxine stimulus] GO:0097746[blood vessel diameter maintenance] GO:1901029[negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway] GO:2000490[negative regulation of hepatic stellate cell activation] GO:2001237[negative regulation of extrinsic apoptotic signaling pathway]
The Human Protein Atlas project is funded
