InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GCLC

Summary

InnateDB Protein

IDBP-91043.6

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

ENSP00000229416

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:0046982	protein heterodimerization activity
GO:0050662	coenzyme binding

Biological Process

GO:0000096	sulfur amino acid metabolic process
GO:0006534	cysteine metabolic process
GO:0006536	glutamate metabolic process
GO:0006749	glutathione metabolic process
GO:0006750	glutathione biosynthetic process
GO:0006805	xenobiotic metabolic process
GO:0006979	response to oxidative stress
GO:0008637	apoptotic mitochondrial changes
GO:0009408	response to heat
GO:0009410	response to xenobiotic stimulus
GO:0009725	response to hormone
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:0034641	cellular nitrogen compound metabolic process
GO:0043066	negative regulation of apoptotic process
GO:0043524	negative regulation of neuron apoptotic process
GO:0044281	small molecule metabolic process
GO:0045454	cell redox homeostasis
GO:0045892	negative regulation of transcription, DNA-templated
GO:0046685	response to arsenic-containing substance
GO:0050880	regulation of blood vessel size
GO:0051409	response to nitrosative stress
GO:0051900	regulation of mitochondrial depolarization
GO:1901687	glutathione derivative biosynthetic process
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway