GSS
entrez
2937
canonical
uniprot
P48637
canonical
ensembl
ENSG00000100983
resolver
ensp
ENSP00000493903
resolver
ensp
ENSP00000495750
resolver
ensp
ENSP00000498303
resolver
genesymbol
GSS
resolver
genesymbol
HEL-S-64p
resolver
genesymbol_syn
GSS
resolver
genesymbol_syn
HEL-S-88n
resolver
hgnc
HGNC:4624
resolver
uniprot
B2R697
resolver
uniprot
B6F210
resolver
uniprot
E1P5P9
resolver
uniprot
Q4TTD9
resolver
uniprot
V9HWJ1
resolver
uniprot_entry
GSHB_HUMAN
resolver
uniprot_entry
V9HWJ1_HUMAN
resolver
uniprot_sec
B2R697
resolver
uniprot_sec
B6F210
resolver
uniprot_sec
E1P5P9
resolver
uniprot_sec
Q4TTD9
resolver
amino_acid_sequence
MATNWGSLLQDKQQLEELARQAVDRALAEGVLLRTSQEPTSSEVVSYAPFTLFPSLVPSALLEQAYAVQMDFNLLVDAVSQNAAFLEQTLSSTIKQDDFTARLFDIHKQVLKEGIAQTVFLGLNRSDYMFQRSADGSPALKQIEINTISASFGGLASRTPAVHRHVLSVLSKTKEAGKILSNNPSKGLALGIAKAWELYGSPNALVLLIAQEKERNIFDQRAIENELLARNIHVIRRTFEDISEKGSLDQDRRLFVDGQEIAVVYFRDGYMPRQYSLQNWEARLLLERSHAAKCPDIATQLAGTKKVQQELSRPGMLEMLLPGQPEAVARLRATFAGLYSLDVGEEGDQAIAEALAAPSRFVLKPQREGGGNNLYGEEMVQALKQLKDSEERASYILMEKIEPEPFENCLLRPGSPARVVQCISELGIFGVYVRQEKTLVMNKHVGHLLRTKAIEHADGGVAAGVAVLDNPYPV
uniprot
proteins
disease_involvement
DISEASE: Glutathione synthetase deficiency (GSSD) [MIM:266130]: An autosomal recessive disorder characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. {ECO:0000269|PubMed:27581854, ECO:0000269|PubMed:8896573, ECO:0000269|PubMed:9215686}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Anemia, congenital, non-spherocytic hemolytic, 6 (CNSHA6) [MIM:231900]: A mild form of glutathione synthetase deficiency, resulting in hemolytic anemia. Affected individuals do not have neurologic abnormalities. CNSHA6 inheritance is autosomal recessive. {ECO:0000269|PubMed:27581854, ECO:0000269|PubMed:8896573, ECO:0000269|PubMed:9215686}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.3.2.3
uniprot
proteins
function
FUNCTION: Catalyzes the production of glutathione from gamma-glutamylcysteine and glycine in an ATP-dependent manner (PubMed:7646467, PubMed:9215686). Glutathione (gamma-glutamylcysteinylglycine, GSH) is the most abundant intracellular thiol in living aerobic cells and is required for numerous processes including the protection of cells against oxidative damage, amino acid transport, the detoxification of foreign compounds, the maintenance of protein sulfhydryl groups in a reduced state and acts as a cofactor for a number of enzymes (PubMed:10369661). Participates in ophthalmate biosynthesis in hepatocytes (By similarity). {ECO:0000250|UniProtKB:P51855, ECO:0000269|PubMed:7646467, ECO:0000269|PubMed:9215686, ECO:0000303|PubMed:10369661}.
uniprot
proteins
mass_dalton
52385
uniprot
proteins
pathway_participation
PATHWAY: Sulfur metabolism; glutathione biosynthesis; glutathione from L-cysteine and L-glutamate: step 2/2. {ECO:0000305|PubMed:9215686}.
uniprot
proteins
protein_family
Eukaryotic GSH synthase family
uniprot
proteins
pubmed
10369661
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19672693
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27581854
uniprot
proteins
pubmed
7646467
uniprot
proteins
pubmed
8896573
uniprot
proteins
pubmed
9215686
uniprot
proteins
sequence_length
474
uniprot
proteins