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Gene id

2729

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

GCLC Gene UCSC Ensembl

Aliases

GCL, GCS, GLCL, GLCLC

Gene name

glutamate-cysteine ligase catalytic subunit

Alternate names

glutamate--cysteine ligase catalytic subunit, GCS heavy chain, gamma-ECS, gamma-glutamylcysteine synthetase,

Gene location

6p12.1 (53545128: 53497340) Exons: 16 NC_000006.12

Gene summary(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]

OMIM

606857

Protein Summary

Protein general information

P48506

Name: Glutamate--cysteine ligase catalytic subunit (EC 6.3.2.2) (GCS heavy chain) (Gamma-ECS) (Gamma-glutamylcysteine synthetase)

Length: 637 Mass: 72,766

Sequence

MGLLSQGSPLSWEETKRHADHVRRHGILQFLHIYHAVKDRHKDVLKWGDEVEYMLVSFDHENKKVRLVLSGEKVL
ETLQEKGERTNPNHPTLWRPEYGSYMIEGTPGQPYGGTMSEFNTVEANMRKRRKEATSILEENQALCTITSFPRL
GCPGFTLPEVKPNPVEGGASKSLFFPDEAINKHPRFSTLTRNIRHRRGEKVVINVPIFKDKNTPSPFIETFTEDD
EASRASKPDHIYMDAMGFGMGNCCLQVTFQACSISEARYLYDQLATICPIVMALSAASPFYRGYVSDIDCRWGVI
SASVDDRTREERGLEPLKNNNYRISKSRYDSIDSYLSKCGEKYNDIDLTIDKEIYEQLLQEGIDHLLAQHVAHLF
IRDPLTLFEEKIHLDDANESDHFENIQSTNWQTMRFKPPPPNSDIGWRVEFRPMEVQLTDFENSAYVVFVVLLTR
VILSYKLDFLIPLSKVDENMKVAQKRDAVLQGMFYFRKDICKGGNAVVDGCGKAQNSTELAAEEYTLMSIDTIIN
GKEGVFPGLIPILNSYLENMEVDVDTRCSILNYLKLIKKRASGELMTVARWMREFIANHPDYKQDSVITDEMNYS
LILKCNQIANELCECPELLGSAFRKVKYSGSKTDSSN

Structural information

Interpro:	IPR004308 IPR014746
Pfam:	PF03074
STRING:	ENSP00000229416;

Other Databases

GeneCards: GCLC; Malacards: GCLC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000096	sulfur amino acid metabol ic process	TAS	biological_process
GO:0000287	magnesium ion binding	IDA	molecular_function
GO:0004357	glutamate-cysteine ligase activity	IDA	molecular_function
GO:0004357	glutamate-cysteine ligase activity	IMP	molecular_function
GO:0004357	glutamate-cysteine ligase activity	IDA	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005829	cytosol	TAS	cellular_component
GO:0006534	cysteine metabolic proces s	IDA	biological_process
GO:0006536	glutamate metabolic proce ss	IDA	biological_process
GO:0006536	glutamate metabolic proce ss	IDA	biological_process
GO:0006750	glutathione biosynthetic process	IEA	biological_process
GO:0006750	glutathione biosynthetic process	IDA	biological_process
GO:0006750	glutathione biosynthetic process	IMP	biological_process
GO:0006750	glutathione biosynthetic process	IDA	biological_process
GO:0006750	glutathione biosynthetic process	TAS	biological_process
GO:0006979	response to oxidative str ess	IDA	biological_process
GO:0006979	response to oxidative str ess	IDA	biological_process
GO:0008637	apoptotic mitochondrial c hanges	IEA	biological_process
GO:0009408	response to heat	IDA	biological_process
GO:0009410	response to xenobiotic st imulus	IEA	biological_process
GO:0009725	response to hormone	IDA	biological_process
GO:0016595	glutamate binding	IDA	molecular_function
GO:0017109	glutamate-cysteine ligase complex	IBA	cellular_component
GO:0019852	L-ascorbic acid metabolic process	IEA	biological_process
GO:0031397	negative regulation of pr otein ubiquitination	IEA	biological_process
GO:0032436	positive regulation of pr oteasomal ubiquitin-depen dent protein catabolic pr ocess	IEA	biological_process
GO:0043066	negative regulation of ap optotic process	IDA	biological_process
GO:0043524	negative regulation of ne uron apoptotic process	IEA	biological_process
GO:0043531	ADP binding	IDA	molecular_function
GO:0045454	cell redox homeostasis	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0046685	response to arsenic-conta ining substance	IEA	biological_process
GO:0046982	protein heterodimerizatio n activity	IEA	molecular_function
GO:0050662	coenzyme binding	IPI	molecular_function
GO:0050662	coenzyme binding	IPI	molecular_function
GO:0050880	regulation of blood vesse l size	IMP	biological_process
GO:0051409	response to nitrosative s tress	IEA	biological_process
GO:0051900	regulation of mitochondri al depolarization	IEA	biological_process
GO:2001237	negative regulation of ex trinsic apoptotic signali ng pathway	IEA	biological_process
GO:0000096	sulfur amino acid metabol ic process	TAS	biological_process
GO:0000166	nucleotide binding	IEA	molecular_function
GO:0000287	magnesium ion binding	IDA	molecular_function
GO:0004357	glutamate-cysteine ligase activity	IEA	molecular_function
GO:0004357	glutamate-cysteine ligase activity	IEA	molecular_function
GO:0004357	glutamate-cysteine ligase activity	IEA	molecular_function
GO:0004357	glutamate-cysteine ligase activity	IDA	molecular_function
GO:0004357	glutamate-cysteine ligase activity	IMP	molecular_function
GO:0004357	glutamate-cysteine ligase activity	IDA	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005829	cytosol	IEA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006534	cysteine metabolic proces s	IDA	biological_process
GO:0006536	glutamate metabolic proce ss	IDA	biological_process
GO:0006536	glutamate metabolic proce ss	IDA	biological_process
GO:0006749	glutathione metabolic pro cess	IEA	biological_process
GO:0006750	glutathione biosynthetic process	IEA	biological_process
GO:0006750	glutathione biosynthetic process	IEA	biological_process
GO:0006750	glutathione biosynthetic process	IEA	biological_process
GO:0006750	glutathione biosynthetic process	IEA	biological_process
GO:0006750	glutathione biosynthetic process	IDA	biological_process
GO:0006750	glutathione biosynthetic process	IMP	biological_process
GO:0006750	glutathione biosynthetic process	IDA	biological_process
GO:0006750	glutathione biosynthetic process	TAS	biological_process
GO:0006979	response to oxidative str ess	IEA	biological_process
GO:0006979	response to oxidative str ess	IDA	biological_process
GO:0006979	response to oxidative str ess	IDA	biological_process
GO:0008637	apoptotic mitochondrial c hanges	IEA	biological_process
GO:0009408	response to heat	IDA	biological_process
GO:0009410	response to xenobiotic st imulus	IEA	biological_process
GO:0009725	response to hormone	IDA	biological_process
GO:0016595	glutamate binding	IDA	molecular_function
GO:0016874	ligase activity	IEA	molecular_function
GO:0017109	glutamate-cysteine ligase complex	IEA	cellular_component
GO:0017109	glutamate-cysteine ligase complex	IBA	cellular_component
GO:0019852	L-ascorbic acid metabolic process	IEA	biological_process
GO:0031397	negative regulation of pr otein ubiquitination	IEA	biological_process
GO:0032436	positive regulation of pr oteasomal ubiquitin-depen dent protein catabolic pr ocess	IEA	biological_process
GO:0043066	negative regulation of ap optotic process	IDA	biological_process
GO:0043524	negative regulation of ne uron apoptotic process	IEA	biological_process
GO:0043531	ADP binding	IDA	molecular_function
GO:0045454	cell redox homeostasis	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0046685	response to arsenic-conta ining substance	IEA	biological_process
GO:0046982	protein heterodimerizatio n activity	IEA	molecular_function
GO:0050662	coenzyme binding	IPI	molecular_function
GO:0050662	coenzyme binding	IPI	molecular_function
GO:0050880	regulation of blood vesse l size	IMP	biological_process
GO:0051409	response to nitrosative s tress	IEA	biological_process
GO:0051900	regulation of mitochondri al depolarization	IEA	biological_process
GO:2001237	negative regulation of ex trinsic apoptotic signali ng pathway	IEA	biological_process
GO:0000096	sulfur amino acid metabol ic process	TAS	biological_process
GO:0000287	magnesium ion binding	IDA	molecular_function
GO:0004357	glutamate-cysteine ligase activity	IDA	molecular_function
GO:0004357	glutamate-cysteine ligase activity	IMP	molecular_function
GO:0004357	glutamate-cysteine ligase activity	IDA	molecular_function
GO:0005829	cytosol	TAS	cellular_component
GO:0006534	cysteine metabolic proces s	IDA	biological_process
GO:0006536	glutamate metabolic proce ss	IDA	biological_process
GO:0006536	glutamate metabolic proce ss	IDA	biological_process
GO:0006750	glutathione biosynthetic process	IDA	biological_process
GO:0006750	glutathione biosynthetic process	IMP	biological_process
GO:0006750	glutathione biosynthetic process	IDA	biological_process
GO:0006750	glutathione biosynthetic process	TAS	biological_process
GO:0006979	response to oxidative str ess	IDA	biological_process
GO:0006979	response to oxidative str ess	IDA	biological_process
GO:0009408	response to heat	IDA	biological_process
GO:0009725	response to hormone	IDA	biological_process
GO:0016595	glutamate binding	IDA	molecular_function
GO:0017109	glutamate-cysteine ligase complex	IBA	cellular_component
GO:0043066	negative regulation of ap optotic process	IDA	biological_process
GO:0043531	ADP binding	IDA	molecular_function
GO:0045454	cell redox homeostasis	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0050662	coenzyme binding	IPI	molecular_function
GO:0050662	coenzyme binding	IPI	molecular_function
GO:0050880	regulation of blood vesse l size	IMP	biological_process

KEGG pathways

hsa00270  Cysteine and methionine metabolism
hsa04216  Ferroptosis
hsa00480  Glutathione metabolism
hsa01100  Metabolic pathways

Diseases

Associated diseases	References
Endometriosis	INFBASE28457937
{Myocardial infarction, susceptibility to}	OMIM606857
Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	OMIM606857
Anemia due to disorders of glutathione metabolism	KEGGH00668

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
28457937	Endometrio sis			61 (31 with his tologically-pro ven endometrios is, 30 disease- free women take n as controls)		NRF2 GCL	Show abstract