Reactome | UniProt:P48637 GSS

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UniProt:P48637 GSS Show undefined attributes

chain	initiator methionine:1 chain:2-474
checksum	3C25EF7072EFE058
comment	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).CATALYTIC ACTIVITY gamma-L-glutamyl-L-cysteine + glycine + ATP = glutathione + ADP + phosphate + H(+)CATALYTIC ACTIVITY gamma-L-glutamyl-(2S)-2-aminobutanoate + glycine + ATP = ophthalmate + ADP + phosphate + H(+)COFACTOR Binds 1 Mg(2+) ion per subunit.PATHWAY Sulfur metabolism; glutathione biosynthesis; glutathione from L-cysteine and L-glutamate: step 2/2.SUBUNIT Homodimer.INTERACTION The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS Detected in colon, kidney, lung, liver, placenta, peripheral blood and uterus, but not in heart, skeletal muscle and spleen.SIMILARITY Belongs to the eukaryotic GSH synthase family.
crossReference	[DatabaseIdentifier:11451414] ENSEMBL:ENSG00000100983 [DatabaseIdentifier:11540837] ENSEMBL:ENSP00000495750 [DatabaseIdentifier:11540839] ENSEMBL:ENSP00000493903 [DatabaseIdentifier:11540840] ENSEMBL:ENSP00000407517 [DatabaseIdentifier:11540841] ENSEMBL:ENSP00000493763 [DatabaseIdentifier:11540838] ENSEMBL:ENSP00000498303 [DatabaseIdentifier:11663538] ENSEMBL:ENST00000644793 [DatabaseIdentifier:11663536] ENSEMBL:ENST00000646735 [DatabaseIdentifier:11663539] ENSEMBL:ENST00000643188 [DatabaseIdentifier:11663540] ENSEMBL:ENST00000451957 [DatabaseIdentifier:11663537] ENSEMBL:ENST00000651619 [DatabaseIdentifier:11788290] GeneCards:GSS [DatabaseIdentifier:11832907] HMDB Protein:HMDBP00791 [DatabaseIdentifier:11841345] HPA:ENSG00000100983-GSS [DatabaseIdentifier:11850581] IntEnz:6.3.2.3 [DatabaseIdentifier:12125909] OpenTargets:ENSG00000100983 [DatabaseIdentifier:12137213] Orphanet:GSS [DatabaseIdentifier:12184551] PDB:8FBZ [DatabaseIdentifier:12184550] PDB:2HGS [DatabaseIdentifier:12245972] PRO:P48637 [DatabaseIdentifier:12286182] Pharos - Targets:P48637 [DatabaseIdentifier:12323058] RefSeq:NP_001309423.1 [DatabaseIdentifier:12323057] RefSeq:NP_001309424.1 [DatabaseIdentifier:12323059] RefSeq:NP_000169.1
databaseName	UniProt
dbId	55996
description	recommendedName: fullName evidence="11"Glutathione synthetase shortName: GSH synthetase shortName: GSH-S ecNumber evidence="5 7"6.3.2.3 alternativeName: Glutathione synthase
displayName	UniProt:P48637 GSS
geneName	GSS
identifier	P48637
isSequenceChanged	false
keyword	3D-structure Acetylation Alternative splicing ATP-binding Direct protein sequencing Disease variant Glutathione biosynthesis Hereditary hemolytic anemia Ligase Magnesium Metal-binding Nucleotide-binding Phosphoprotein Proteomics identification Reference proteome
modified	[InstanceEdit:9963647] Weiser, Joel, 2025-08-15
moleculeType	Protein
name	GSS
otherIdentifier	11715923_a_at 11746330_a_at 16918589 201415_PM_at 201415_at 211630_PM_s_at 211630_s_at 2937 38386_r_at 3903669 3903671 3903672 3903673 3903674 3903675 3903678 3903679 3903680 3903681 3903682 3903683 3903685 3903686 3903687 3903688 3903689 3903690 3903691 3903692 3903693 3903694 3903695 3903696 3903697 74726_at 8065817 A_23_P210920 GE59100 GE63329 GE84610 GO:0000166 GO:0000287 GO:0003824 GO:0004363 GO:0005515 GO:0005524 GO:0005829 GO:0006520 GO:0006575 GO:0006750 GO:0006790 GO:0006979 GO:0007399 GO:0016874 GO:0042802 GO:0042803 GO:0043295 GO:0046686 GO:0046872 GO:0048856 GO:0070062 HMNXSV003047596 ILMN_1683462 PH_hs_0004715 TC20000789.hg U34683_at g4504168_3p_at g886283_3p_s_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-174364] GSS [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5602981] GSS P314L [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5602876] GSS R283C [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5602959] GSS R164Q [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5602830] GSS R267W [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5602906] GSS R125C [cytosol] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000100983] ENSEMBL:ENSG00000100983 GSS [ReferenceDNASequence:12725774] UCSC:P48637 GSS [ReferenceDNASequence:11316783] BioGPS Gene:2937 GSS [ReferenceDNASequence:11397901] COSMIC - genes:GSS GSS [ReferenceDNASequence:11414459] CTD Gene:2937 GSS [ReferenceDNASequence:11434660] dbSNP Gene:2937 GSS [ReferenceDNASequence:11819942] HGNC:4624 GSS [ReferenceDNASequence:11860041] KEGG:hsa:2937 GSS [ReferenceDNASequence:11946572] Monarch:2937 GSS [ReferenceDNASequence:12030665] NCBI Gene:2937 GSS [ReferenceDNASequence:12111079] OMIM:601002 GSS
referenceTranscript	[ReferenceRNASequence:12505029] RefSeq:NM_001322494.1 GSS [ReferenceRNASequence:12505031] RefSeq:NM_000178.4 GSS [ReferenceRNASequence:12505030] RefSeq:NM_001322495.1 GSS
schemaClass	ReferenceGeneProduct
secondaryIdentifier	GSHB_HUMAN B2R697 B6F210 E1P5P9 Q4TTD9
sequenceLength	474
species	[Species:48887] Homo sapiens
stId	uniprot:P48637
url	http://purl.uniprot.org/uniprot/P48637

Referrals

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-174364] GSS [cytosol] [EntityWithAccessionedSequence:R-HSA-5602981] GSS P314L [cytosol] [EntityWithAccessionedSequence:R-HSA-5602876] GSS R283C [cytosol] [EntityWithAccessionedSequence:R-HSA-5602959] GSS R164Q [cytosol] [EntityWithAccessionedSequence:R-HSA-5602830] GSS R267W [cytosol] [EntityWithAccessionedSequence:R-HSA-5602906] GSS R125C [cytosol]
(referenceSequence)	[ReplacedResidue:5602870] L-proline 314 replaced with L-leucine [ReplacedResidue:5602838] L-arginine 283 replaced with L-cysteine [ReplacedResidue:5602856] L-arginine 164 replaced with L-glutamine [ReplacedResidue:5602999] L-arginine 267 replaced with L-tryptophan [ReplacedResidue:5602827] L-arginine 125 replaced with L-cysteine