We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
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).
Cancer-related genes Human disease related genes Metabolic proteins
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
1
Cytoband
p22.1
Chromosome location (bp)
93885199 - 93909456
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Glutathione biosynthesis
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. Gamma glutamylcysteine synthetase deficiency has been implicated in some forms of hemolytic anemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]...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 Cancer-related genes Candidate cancer biomarkers Human disease related genes Cardiovascular diseases Cardiac diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004357[glutamate-cysteine ligase activity] GO:0005515[protein binding] 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:0008637[apoptotic mitochondrial changes] GO:0009410[response to xenobiotic stimulus] GO:0014823[response to activity] GO:0017109[glutamate-cysteine ligase complex] GO:0030234[enzyme regulator activity] GO:0035226[glutamate-cysteine ligase catalytic subunit binding] GO:0035229[positive regulation of glutamate-cysteine ligase activity] GO:0035729[cellular response to hepatocyte growth factor stimulus] GO:0035733[hepatic stellate cell activation] GO:0043524[negative regulation of neuron apoptotic process] GO:0044344[cellular response to fibroblast growth factor stimulus] GO:0044752[response to human chorionic gonadotropin] GO:0044877[protein-containing complex binding] GO:0051409[response to nitrosative stress] GO:0051900[regulation of mitochondrial depolarization] 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:1990830[cellular response to leukemia inhibitory factor] GO:2001237[negative regulation of extrinsic apoptotic signaling pathway]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Human disease related genes Cardiovascular diseases Cardiac diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
