GCLC
entrez
2729
canonical
uniprot
P48506
canonical
ensembl
ENSG00000001084
resolver
ensp
ENSP00000424211
resolver
ensp
ENSP00000497574
resolver
enst
ENST00000513939
resolver
enst
ENST00000650454
resolver
genesymbol
GCLC
resolver
genesymbol_syn
GLCL
resolver
genesymbol_syn
GLCLC
resolver
hgnc
HGNC:4311
resolver
uniprot
A0ACM8QMC3
resolver
uniprot
E1CEI4
resolver
uniprot
H0Y9I7
resolver
uniprot
Q14399
resolver
uniprot
Q14TF0
resolver
uniprot_entry
A0ACM8QMC3_HUMAN
resolver
uniprot_entry
E1CEI4_HUMAN
resolver
uniprot_entry
GSH1_HUMAN
resolver
uniprot_entry
Q14TF0_HUMAN
resolver
uniprot_sec
H0Y9I7
resolver
uniprot_sec
Q14399
resolver
activity_regulation
ACTIVITY REGULATION: Feedback inhibition by glutathione.
uniprot
proteins
amino_acid_sequence
MGLLSQGSPLSWEETKRHADHVRRHGILQFLHIYHAVKDRHKDVLKWGDEVEYMLVSFDHENKKVRLVLSGEKVLETLQEKGERTNPNHPTLWRPEYGSYMIEGTPGQPYGGTMSEFNTVEANMRKRRKEATSILEENQALCTITSFPRLGCPGFTLPEVKPNPVEGGASKSLFFPDEAINKHPRFSTLTRNIRHRRGEKVVINVPIFKDKNTPSPFIETFTEDDEASRASKPDHIYMDAMGFGMGNCCLQVTFQACSISEARYLYDQLATICPIVMALSAASPFYRGYVSDIDCRWGVISASVDDRTREERGLEPLKNNNYRISKSRYDSIDSYLSKCGEKYNDIDLTIDKEIYEQLLQEGIDHLLAQHVAHLFIRDPLTLFEEKIHLDDANESDHFENIQSTNWQTMRFKPPPPNSDIGWRVEFRPMEVQLTDFENSAYVVFVVLLTRVILSYKLDFLIPLSKVDENMKVAQKRDAVLQGMFYFRKDICKGGNAVVDGCGKAQNSTELAAEEYTLMSIDTIINGKEGVFPGLIPILNSYLENMEVDVDTRCSILNYLKLIKKRASGELMTVARWMREFIANHPDYKQDSVITDEMNYSLILKCNQIANELCECPELLGSAFRKVKYSGSKTDSSN
uniprot
proteins
disease_involvement
DISEASE: Anemia, congenital, non-spherocytic hemolytic, 7 (CNSHA7) [MIM:230450]: An autosomal recessive disease characterized by hemolytic anemia, glutathione deficiency, myopathy, late-onset spinocerebellar degeneration, and peripheral neuropathy. {ECO:0000269|PubMed:10515893, ECO:0000269|PubMed:10733484, ECO:0000269|PubMed:12663448}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.3.2.2
uniprot
proteins
function
FUNCTION: Catalyzes the ATP-dependent ligation of L-glutamate and L-cysteine and participates in the first and rate-limiting step in glutathione biosynthesis. {ECO:0000269|PubMed:9675072}.
uniprot
proteins
mass_dalton
72766
uniprot
proteins
pathway_participation
PATHWAY: Sulfur metabolism; glutathione biosynthesis; glutathione from L-cysteine and L-glutamate: step 1/2. {ECO:0000305|PubMed:9675072}.
uniprot
proteins
protein_family
Glutamate--cysteine ligase type 3 family
uniprot
proteins
pubmed
10515893
uniprot
proteins
pubmed
10733484
uniprot
proteins
pubmed
12663448
uniprot
proteins
pubmed
1350904
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
7726839
uniprot
proteins
pubmed
9675072
uniprot
proteins
sequence_length
637
uniprot
proteins