1. Gene
  2. GSS - glutathione synthetase Gene

GSS - glutathione synthetase Gene

Homo sapiens

Also known as GSHS; HEL-S-64p; HEL-S-88n

Gene ID: 2937 | Gene type: protein coding

About GSS

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:34,928,432-34,956,027 (from NCBI)

This gene has 28 transcripts (splice variants), 245 orthologues and is associated with 4 phenotypes. Ubiquitous expression in kidney (RPKM 14.9), colon (RPKM 13.6) and 25 other tissues.

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 catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq, Jul 2008]

GSS Products(3)

mRNA Protein Name
NM_000178.4 NP_000169.1 glutathione synthetase
NM_001322494.1 NP_001309423.1 glutathione synthetase
NM_001322495.1 NP_001309424.1 glutathione synthetase
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables ATP binding IDA
IDA: Inferred from direct assay
10369661 GOA
enables glutathione binding IDA
IDA: Inferred from direct assay
10369661 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
21988832 GOA
enables magnesium ion binding IDA
IDA: Inferred from direct assay
10369661 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21044950 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
10369661 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GSS Protein Structure

GSH_synth_ATP

GSH_synth_ATP: Eukaryotic glutathione synthase, ATP binding domain (8 - 472)

GSH_synthase

GSH_synthase: Eukaryotic glutathione synthase (203 - 302)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 474 a.a.
Protein Preferred Names Protein Names

glutathione synthetase

GSH synthetase

GSS Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
GSS P48637 GSS Homo sapiens P48637 32296183
Intra
GSS P48637 IRF3 Homo sapiens Q14653 18309294
Intra
GSS P48637 GSS Homo sapiens P48637 32296183
Intra
GSS P48637 GSS Homo sapiens P48637
Y2H
21988832
Intra
GSS P48637 GSS Homo sapiens P48637 26871637
Intra
GSS P48637 TERF1 Homo sapiens P54274 21044950
Intra
GSS P48637 TERF1 Homo sapiens P54274 21044950
Intra
GSS P48637 GSS Homo sapiens P48637 32296183
Intra
GSS P48637 GSS Homo sapiens P48637 25416956
Intra
GSS P48637 GSS Homo sapiens P48637 26871637
Intra
GSS P48637 GSS Homo sapiens P48637 26871637
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant GSS Proteins

Cat. No. Product Name Accession Purity
HY-P70360 Glutathione synthetase/GSS Protein, Human (His) P48637-1 (A2-V474) ≥95%

Related Diseases

Diseases Alias
Glutathione Synthetase Deficiency

5-Oxoprolinuria

Pyroglutamic Aciduria

Pyroglutamicaciduria

Glutathione Synthetase Deficiency With 5-Oxoprolinuria

GSSD

Oxoprolinase Deficiency

5-Oxoprolinemia

Deficiency Of Glutathione Synthase

Deficiency Of Glutathione Synthetase

Pyroglutamic Acidemia

GSS DEFICIENCY

Gluthathione Synthetase Deficiency

5-Oxoprolinase Deficiency

Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To

Hemolytic Anemia Due To Glutathione Synthetase Deficiency

GSSDE

Glutathione Synthetase Deficiency Of Erythrocytes

GLUSYNDE

Glutathione Synthetase Deficiency Of Erythrocytes

Glutathione Synthetase Deficiency Without 5-Oxoprolinuria

Metabolic Acidosis
Hemolytic Anemia

Anemia, Hemolytic

Anemia Hemolytic

Anaemia Due To Other Disorders Of Glutathione Metabolism

Chronic Non Spherocytic Anaemia

G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

Favism Anaemia

Haemolytic Anaemia Due Tog6pd Deficiency

Favism

Pentose Phosphate Pathway Disorder Anaemia

Anaemia Due To Pentose Phosphate Pathway Defect

Combined D-2- And L-2-Hydroxyglutaric Aciduria

D,L-2-Hydroxyglutaric Aciduria

D2L2AD

Combined D-2-Hydroxyglutaric Acidemia And L-2-Hydroxyglutaric Acidemia

Combined D-2-Hydroxyglutaric Aciduria And L-2-Hydroxyglutaric Aciduria

D,L-2-Hga

D,L-2-Hydroxyglutaric Acidemia

Combined D,L-2-Hydroxyglutaric Aciduria

2-Hydroxyglutaric Aciduria

2-Hga

2-Hydroxyglutaric Acidemia

2-Hydroxyglutaricaciduria

Combined D-2- And L-2-Hydroxyglutaric Aciduria

L-2-Hydroxyglutaric Aciduria

L-2-Hydroxyglutaric Acidemia

L2HGA

L-2-Hga

Aciduria, L-2-Hydroxyglutaric

Combined D-2- And L-2-Hydroxyglutaric Aciduria

D-2-Hydroxyglutaric Aciduria 1

D-2-Hydroxyglutaric Aciduria

D2HGA1

D-2-Hga

D-2-Hydroxyglutaric Acidemia

D2ha

D2hga

Aciduria, D-2-Hydroxyglutaric, Type 1

Combined D-2- And L-2-Hydroxyglutaric Aciduria

Cystinosis

Cystine Storage Disease

Cystine Diathesis

Cystine Disease

Cystinoses

Protein Defect Of Cystin Transport

Cystin Transport, Protein Defect Of

Nephropathic Cystinosis

Protein Defect Of Cystine Transport

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus GSS MGD MGI:95852
Bos taurus GSS VGNC VGNC:29683
Macaca mulatta GSS VGNC VGNC:73301
Canis familiaris GSS VGNC VGNC:41534
Rattus norvegicus GSS RGD RGD:2752
Felis catus GSS VGNC VGNC:67489
Others GSS NCBI