Homo sapiens Protein: GCLC
Summary
InnateDB Protein IDBP-480979.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GCLC
Protein Name glutamate-cysteine ligase, catalytic subunit
Synonyms GCL; GCS; GLCL; GLCLC;
Species Homo sapiens
Ensembl Protein ENSP00000421908
InnateDB Gene IDBG-91041 (GCLC)
Protein Structure
UniProt Annotation
Function
Subcellular Localization
Disease Associations 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:0000269PubMed:10515893, ECO:0000269PubMed:10733484, ECO:0000269PubMed:12663448}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 15 [view]
Protein-Protein 7 [view]
Protein-DNA 7 [view]
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000287 magnesium ion binding
GO:0004357 glutamate-cysteine ligase activity
GO:0005524 ATP binding
GO:0016595 glutamate binding
GO:0043531 ADP binding
GO:0050662 coenzyme binding
Biological Process
GO:0000096 sulfur amino acid metabolic process
GO:0006534 cysteine metabolic process
GO:0006536 glutamate metabolic process
GO:0006750 glutathione biosynthetic process
GO:0006805 xenobiotic metabolic process
GO:0006979 response to oxidative stress
GO:0009408 response to heat
GO:0009725 response to hormone
GO:0034641 cellular nitrogen compound metabolic process
GO:0043066 negative regulation of apoptotic process
GO:0044281 small molecule metabolic process
GO:0045454 cell redox homeostasis
GO:0045892 negative regulation of transcription, DNA-templated
GO:0050880 regulation of blood vessel size
GO:1901687 glutathione derivative biosynthetic process
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P48506
PhosphoSite PhosphoSite-P48506
TrEMBL D6R959
UniProt Splice Variant
Entrez Gene 2729
UniGene Hs.654465
RefSeq
HUGO HGNC:4311
OMIM 606857
CCDS
HPRD 06032
IMGT
EMBL AF118846 AL033397 AY780794 BC022487 BC039894 L39773 M90656
GenPept AAA58499 AAC41751 AAD18031 AAH22487 AAH39894 AAV31778