Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2937
Gene name	Glutathione synthetase
Gene symbol	GSS
Synonyms (NCBI Gene)	CNSHA6GSHSHEL-S-64pHEL-S-88n
Chromosome	20
Chromosome location	20q11.22
Summary	Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catal

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28936396	G>A	Pathogenic	Missense variant, coding sequence variant
rs28938472	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs121909307	C>T	Pathogenic	Coding sequence variant, missense variant
rs121909308	G>A	Pathogenic	Coding sequence variant, missense variant
rs121909309	G>A	Pathogenic	Coding sequence variant, missense variant
rs150141794	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs752560204	C>-	Conflicting-interpretations-of-pathogenicity	Initiator codon variant, frameshift variant
rs1131691975	C>T	Likely-pathogenic	Initiator codon variant, missense variant

160

Show/Hide all (160)

miRTarBase ID	miRNA	Experiments	Reference
MIRT043308	hsa-miR-331-3p	CLASH	23622248
MIRT041404	hsa-miR-193b-3p	CLASH	23622248
MIRT040592	hsa-miR-92b-3p	CLASH	23622248
MIRT054199	hsa-miR-125b-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	22723551
MIRT532580	hsa-miR-504-5p	PAR-CLIP	22012620
MIRT532579	hsa-miR-10a-5p	PAR-CLIP	22012620
MIRT532578	hsa-miR-10b-5p	PAR-CLIP	22012620
MIRT532577	hsa-miR-125a-5p	PAR-CLIP	22012620
MIRT054199	hsa-miR-125b-5p	PAR-CLIP	22012620
MIRT532576	hsa-miR-4319	PAR-CLIP	22012620
MIRT532575	hsa-miR-610	PAR-CLIP	22012620
MIRT532574	hsa-miR-7848-3p	PAR-CLIP	22012620
MIRT532573	hsa-miR-513c-5p	PAR-CLIP	22012620
MIRT532572	hsa-miR-514b-5p	PAR-CLIP	22012620
MIRT532580	hsa-miR-504-5p	PAR-CLIP	22012620
MIRT532579	hsa-miR-10a-5p	PAR-CLIP	22012620
MIRT532578	hsa-miR-10b-5p	PAR-CLIP	22012620
MIRT532577	hsa-miR-125a-5p	PAR-CLIP	22012620
MIRT054199	hsa-miR-125b-5p	PAR-CLIP	22012620
MIRT532576	hsa-miR-4319	PAR-CLIP	22012620
MIRT532575	hsa-miR-610	PAR-CLIP	22012620
MIRT532574	hsa-miR-7848-3p	PAR-CLIP	22012620
MIRT532573	hsa-miR-513c-5p	PAR-CLIP	22012620
MIRT532572	hsa-miR-514b-5p	PAR-CLIP	22012620
MIRT1036443	hsa-miR-10a	CLIP-seq
MIRT1036444	hsa-miR-10b	CLIP-seq
MIRT1036445	hsa-miR-1185	CLIP-seq
MIRT1036446	hsa-miR-124	CLIP-seq
MIRT1036447	hsa-miR-125b	CLIP-seq
MIRT1036448	hsa-miR-3153	CLIP-seq
MIRT1036449	hsa-miR-3154	CLIP-seq
MIRT1036450	hsa-miR-3162-5p	CLIP-seq
MIRT1036451	hsa-miR-3679-5p	CLIP-seq
MIRT1036452	hsa-miR-3689d	CLIP-seq
MIRT1036453	hsa-miR-3714	CLIP-seq
MIRT1036454	hsa-miR-3910	CLIP-seq
MIRT1036455	hsa-miR-4266	CLIP-seq
MIRT1036456	hsa-miR-4328	CLIP-seq
MIRT1036457	hsa-miR-4443	CLIP-seq
MIRT1036458	hsa-miR-4475	CLIP-seq
MIRT1036459	hsa-miR-4477b	CLIP-seq
MIRT1036460	hsa-miR-4521	CLIP-seq
MIRT1036461	hsa-miR-4695-5p	CLIP-seq
MIRT1036462	hsa-miR-4749-3p	CLIP-seq
MIRT1036463	hsa-miR-4779	CLIP-seq
MIRT1036464	hsa-miR-4797-5p	CLIP-seq
MIRT1036465	hsa-miR-506	CLIP-seq
MIRT1036466	hsa-miR-651	CLIP-seq
MIRT1036443	hsa-miR-10a	CLIP-seq
MIRT1036444	hsa-miR-10b	CLIP-seq
MIRT1036447	hsa-miR-125b	CLIP-seq
MIRT1036443	hsa-miR-10a	CLIP-seq
MIRT1036444	hsa-miR-10b	CLIP-seq
MIRT1036447	hsa-miR-125b	CLIP-seq
MIRT2007284	hsa-miR-4695-3p	CLIP-seq
MIRT1036443	hsa-miR-10a	CLIP-seq
MIRT1036444	hsa-miR-10b	CLIP-seq
MIRT1036446	hsa-miR-124	CLIP-seq
MIRT1036447	hsa-miR-125b	CLIP-seq
MIRT2239888	hsa-miR-2278	CLIP-seq
MIRT1036448	hsa-miR-3153	CLIP-seq
MIRT1036450	hsa-miR-3162-5p	CLIP-seq
MIRT2239889	hsa-miR-3184	CLIP-seq
MIRT2239890	hsa-miR-3660	CLIP-seq
MIRT2239891	hsa-miR-3691-3p	CLIP-seq
MIRT2239892	hsa-miR-370	CLIP-seq
MIRT1036453	hsa-miR-3714	CLIP-seq
MIRT2239893	hsa-miR-3908	CLIP-seq
MIRT1036454	hsa-miR-3910	CLIP-seq
MIRT2239894	hsa-miR-423-5p	CLIP-seq
MIRT2239895	hsa-miR-4269	CLIP-seq
MIRT1036456	hsa-miR-4328	CLIP-seq
MIRT2239896	hsa-miR-4433	CLIP-seq
MIRT1036459	hsa-miR-4477b	CLIP-seq
MIRT2239897	hsa-miR-4481	CLIP-seq
MIRT2239898	hsa-miR-4502	CLIP-seq
MIRT2239899	hsa-miR-4514	CLIP-seq
MIRT2239900	hsa-miR-4526	CLIP-seq
MIRT2239901	hsa-miR-4535	CLIP-seq
MIRT2239902	hsa-miR-4656	CLIP-seq
MIRT2239903	hsa-miR-4667-3p	CLIP-seq
MIRT2239904	hsa-miR-4692	CLIP-seq
MIRT2239905	hsa-miR-4733-5p	CLIP-seq
MIRT2239906	hsa-miR-4742-5p	CLIP-seq
MIRT2239907	hsa-miR-4745-5p	CLIP-seq
MIRT1036462	hsa-miR-4749-3p	CLIP-seq
MIRT2239908	hsa-miR-4777-3p	CLIP-seq
MIRT2239909	hsa-miR-492	CLIP-seq
MIRT1036465	hsa-miR-506	CLIP-seq
MIRT2239910	hsa-miR-513c	CLIP-seq
MIRT2239911	hsa-miR-545	CLIP-seq
MIRT2239912	hsa-miR-646	CLIP-seq
MIRT1036443	hsa-miR-10a	CLIP-seq
MIRT1036444	hsa-miR-10b	CLIP-seq
MIRT1036445	hsa-miR-1185	CLIP-seq
MIRT2543435	hsa-miR-1204	CLIP-seq
MIRT2543436	hsa-miR-1206	CLIP-seq
MIRT2543437	hsa-miR-1207-5p	CLIP-seq
MIRT1036447	hsa-miR-125b	CLIP-seq
MIRT2543438	hsa-miR-1275	CLIP-seq
MIRT2239888	hsa-miR-2278	CLIP-seq
MIRT2543439	hsa-miR-3151	CLIP-seq
MIRT1036449	hsa-miR-3154	CLIP-seq
MIRT2543440	hsa-miR-3663-5p	CLIP-seq
MIRT1036451	hsa-miR-3679-5p	CLIP-seq
MIRT2543441	hsa-miR-4260	CLIP-seq
MIRT2543442	hsa-miR-4281	CLIP-seq
MIRT2239896	hsa-miR-4433	CLIP-seq
MIRT1036458	hsa-miR-4475	CLIP-seq
MIRT2239897	hsa-miR-4481	CLIP-seq
MIRT2543443	hsa-miR-4488	CLIP-seq
MIRT1036460	hsa-miR-4521	CLIP-seq
MIRT2239901	hsa-miR-4535	CLIP-seq
MIRT2543444	hsa-miR-4665-5p	CLIP-seq
MIRT2007284	hsa-miR-4695-3p	CLIP-seq
MIRT2543445	hsa-miR-4697-5p	CLIP-seq
MIRT2239907	hsa-miR-4745-5p	CLIP-seq
MIRT2543446	hsa-miR-4763-3p	CLIP-seq
MIRT2239908	hsa-miR-4777-3p	CLIP-seq
MIRT2543447	hsa-miR-4777-5p	CLIP-seq
MIRT1036464	hsa-miR-4797-5p	CLIP-seq
MIRT2543448	hsa-miR-486-3p	CLIP-seq
MIRT2543449	hsa-miR-490-5p	CLIP-seq
MIRT2239909	hsa-miR-492	CLIP-seq
MIRT2543450	hsa-miR-493	CLIP-seq
MIRT2239910	hsa-miR-513c	CLIP-seq
MIRT2239912	hsa-miR-646	CLIP-seq
MIRT1036443	hsa-miR-10a	CLIP-seq
MIRT1036444	hsa-miR-10b	CLIP-seq
MIRT1036445	hsa-miR-1185	CLIP-seq
MIRT2543436	hsa-miR-1206	CLIP-seq
MIRT2543437	hsa-miR-1207-5p	CLIP-seq
MIRT1036447	hsa-miR-125b	CLIP-seq
MIRT2543438	hsa-miR-1275	CLIP-seq
MIRT2239888	hsa-miR-2278	CLIP-seq
MIRT2543439	hsa-miR-3151	CLIP-seq
MIRT1036449	hsa-miR-3154	CLIP-seq
MIRT2543440	hsa-miR-3663-5p	CLIP-seq
MIRT1036451	hsa-miR-3679-5p	CLIP-seq
MIRT2543441	hsa-miR-4260	CLIP-seq
MIRT2239896	hsa-miR-4433	CLIP-seq
MIRT1036458	hsa-miR-4475	CLIP-seq
MIRT2239897	hsa-miR-4481	CLIP-seq
MIRT2543443	hsa-miR-4488	CLIP-seq
MIRT1036460	hsa-miR-4521	CLIP-seq
MIRT2239901	hsa-miR-4535	CLIP-seq
MIRT2543444	hsa-miR-4665-5p	CLIP-seq
MIRT2007284	hsa-miR-4695-3p	CLIP-seq
MIRT2543445	hsa-miR-4697-5p	CLIP-seq
MIRT2239907	hsa-miR-4745-5p	CLIP-seq
MIRT2543446	hsa-miR-4763-3p	CLIP-seq
MIRT2239908	hsa-miR-4777-3p	CLIP-seq
MIRT2543447	hsa-miR-4777-5p	CLIP-seq
MIRT1036464	hsa-miR-4797-5p	CLIP-seq
MIRT2543448	hsa-miR-486-3p	CLIP-seq
MIRT2543449	hsa-miR-490-5p	CLIP-seq
MIRT2239909	hsa-miR-492	CLIP-seq
MIRT2543450	hsa-miR-493	CLIP-seq
MIRT2239910	hsa-miR-513c	CLIP-seq
MIRT2239912	hsa-miR-646	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
NFE2	Unknown	15890065
NFE2L2	Unknown	15890065;22213475

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IDA	10369661
GO:0004363	Function	Glutathione synthase activity	IBA
GO:0004363	Function	Glutathione synthase activity	IEA
GO:0004363	Function	Glutathione synthase activity	TAS	7646467
GO:0005515	Function	Protein binding	IPI	21044950
GO:0005524	Function	ATP binding	IDA	10369661
GO:0005524	Function	ATP binding	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006520	Process	Amino acid metabolic process	TAS	8896573
GO:0006750	Process	Glutathione biosynthetic process	IEA
GO:0006979	Process	Response to oxidative stress	TAS	465367
GO:0007399	Process	Nervous system development	TAS	8896573
GO:0016874	Function	Ligase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	21988832, 25416956, 26871637, 32296183
GO:0042803	Function	Protein homodimerization activity	IDA	10369661
GO:0043295	Function	Glutathione binding	IBA
GO:0043295	Function	Glutathione binding	IDA	10369661
GO:0046686	Process	Response to cadmium ion	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

MIM	HGNC	e!Ensembl
601002	4624	ENSG00000100983

P48637

Protein name

Glutathione synthetase (GSH synthetase) (GSH-S) (EC 6.3.2.3) (Glutathione synthase)

Protein 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 aer

PDB

2HGS , 8FBZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03917	GSH_synth_ATP	12 → 472	Eukaryotic glutathione synthase, ATP binding domain	Domain
PF03199	GSH_synthase	204 → 302	Eukaryotic glutathione synthase	Domain

Sequence

MATNWGSLLQDKQQLEELARQAVDRALAEGVLLRTSQEPTSSEVVSYAPFTLFPSLVPSA
LLEQAYAVQMDFNLLVDAVSQNAAFLEQTLSSTIKQDDFTARLFDIHKQVLKEGIAQTVF
LGLNRSDYMFQRSADGSPALKQIEINTISASFGGLASRTPAVHRHVLSVLSKTKEAGKIL
SNNPSKGLALGIAKAWELYGSPNALVLLIAQEKERNIFDQRAIENELLARNIHVIRRTFE
DISEKGSLDQDRRLFVDGQEIAVVYFRDGYMPRQYSLQNWEARLLLERSHAAKCPDIATQ
LAGTKKVQQELSRPGMLEMLLPGQPEAVARLRATFAGLYSLDVGEEGDQAIAEALAAPSR
FVLKPQREGGGNNLYGEEMVQALKQLKDSEERASYILMEKIEPEPFENCLLRPGSPARVV
QCISELGIFGVYVRQEKTLVMNKHVGHLLRTKAIEHADGGVAAGVAVLDNPYPV

Sequence length

474

Interactions

View interactions

	KEGG		Reactome
	Cysteine and methionine metabolism Glutathione metabolism Metabolic pathways Biosynthesis of cofactors Ferroptosis		Glutathione synthesis and recycling Defective GSS causes Glutathione synthetase deficiency (GSS deficiency)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Glutathione synthetase deficiency with 5-oxoprolinuria	Likely pathogenic; Pathogenic	rs2081381650, rs1486049191, rs983871391, rs770455024, rs765110067, rs121909307, rs121909308, rs121909309, rs28936396, rs28938472, rs757968278, rs773018519, rs2519019647, rs2519033349, rs2519019498 View all (21 more)	RCV005032526 RCV005030120 RCV005094522 RCV004587171 RCV005057828 View all (32 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glutathione synthetase deficiency without 5-oxoprolinuria	Likely pathogenic; Pathogenic	rs2081381650, rs1486049191, rs770455024, rs765110067, rs121909308, rs28936396, rs28938472, rs757968278, rs773018519, rs2519043780, rs752560204, rs201925123	RCV005032526 RCV005030120 RCV005038244 RCV005031993 RCV005025040 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GSS-related disorder	Likely pathogenic	rs2519026353	RCV003402904	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited glutathione synthetase deficiency	Likely pathogenic; Pathogenic	rs2147120336, rs121909307, rs121909309, rs28938472, rs2519016906, rs752560204, rs1555889738, rs201925123	RCV002222954 RCV000009051 RCV000009054 RCV000984989 RCV003123374 RCV000345182 RCV000587316 RCV001042779 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Adrenocortical carcinoma, hereditary	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 6	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTACT DERMATITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, CONTACT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	-; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

GSS (glutathione synthetase)