Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GSS Gene

Aliases for GSS Gene

  • Glutathione Synthetase 2 3
  • Glutathione Synthase 3 4
  • GSH Synthetase 3 4
  • EC 6.3.2.3 4 63
  • GSH-S 3 4
  • GSHS 3 6
  • Epididymis Secretory Sperm Binding Protein Li 64p 3
  • Epididymis Secretory Sperm Binding Protein Li 88n 3
  • HEL-S-64p 3
  • HEL-S-88n 3

External Ids for GSS Gene

Previous GeneCards Identifiers for GSS Gene

  • GC20M033274
  • GC20M034184
  • GC20M034232
  • GC20M034233
  • GC20M032980
  • GC20M033517
  • GC20M030294

Summaries for GSS Gene

Entrez Gene Summary for GSS Gene

  • 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]

GeneCards Summary for GSS Gene

GSS (Glutathione Synthetase) is a Protein Coding gene. Diseases associated with GSS include glutathione synthetase deficiency and hemolytic anemia due to glutathione synthetase deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and glycine binding.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GSS Gene

Genomics for GSS Gene

Regulatory Elements for GSS Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GSS Gene

Start:
34,928,430 bp from pter
End:
34,955,817 bp from pter
Size:
27,388 bases
Orientation:
Minus strand

Genomic View for GSS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GSS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GSS Gene

Proteins for GSS Gene

  • Protein details for GSS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48637-GSHB_HUMAN
    Recommended name:
    Glutathione synthetase
    Protein Accession:
    P48637
    Secondary Accessions:
    • B2R697
    • B6F210
    • E1P5P9
    • Q4TTD9

    Protein attributes for GSS Gene

    Size:
    474 amino acids
    Molecular mass:
    52385 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Binds 1 Mg(2+) ion per subunit.;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for GSS Gene

    Alternative splice isoforms for GSS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GSS Gene

Proteomics data for GSS Gene at MOPED

Post-translational modifications for GSS Gene

  • Ubiquitination at Lys12, Lys112, and Lys400
  • Modification sites at PhosphoSitePlus

Other Protein References for GSS Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for GSS Gene

Suggested Antigen Peptide Sequences for GSS Gene

Graphical View of Domain Structure for InterPro Entry

P48637

UniProtKB/Swiss-Prot:

GSHB_HUMAN :
  • P48637
Family:
  • Belongs to the eukaryotic GSH synthase family.
genes like me logo Genes that share domains with GSS: view

No data available for Gene Families for GSS Gene

Function for GSS Gene

Molecular function for GSS Gene

GENATLAS Biochemistry: glutathione synthetase,52.4kDa
UniProtKB/Swiss-Prot CatalyticActivity: ATP + gamma-L-glutamyl-L-cysteine + glycine = ADP + phosphate + glutathione

Enzyme Numbers (IUBMB) for GSS Gene

Gene Ontology (GO) - Molecular Function for GSS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 10369661
GO:0004363 glutathione synthase activity TAS --
GO:0005524 ATP binding IDA 10369661
GO:0016594 glycine binding IEA --
GO:0042277 peptide binding --
genes like me logo Genes that share ontologies with GSS: view

Phenotypes for GSS Gene

MGI mutant phenotypes for GSS:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with GSS: view

Animal Models for GSS Gene

MGI Knock Outs for GSS:

Animal Model Products

CRISPR Products

miRNA for GSS Gene

No data available for Transcription Factor Targeting and HOMER Transcription for GSS Gene

Localization for GSS Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GSS Gene COMPARTMENTS Subcellular localization image for GSS gene
Compartment Confidence
cytosol 4
mitochondrion 2
nucleus 2
chloroplast 1
extracellular 1
peroxisome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for GSS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with GSS: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GSS Gene

Pathways for GSS Gene

genes like me logo Genes that share pathways with GSS: view

Pathways by source for GSS Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Nitric Oxide Signaling Pathway in human,mouse,rat
    • Oxidative Stress in human,mouse,rat

UniProtKB/Swiss-Prot P48637-GSHB_HUMAN

  • Pathway: Sulfur metabolism; glutathione biosynthesis; glutathione from L-cysteine and L-glutamate: step 2/2

Gene Ontology (GO) - Biological Process for GSS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006520 cellular amino acid metabolic process TAS 8896573
GO:0006750 glutathione biosynthetic process TAS --
GO:0006805 xenobiotic metabolic process TAS --
GO:0006979 response to oxidative stress TAS 465367
GO:0007399 nervous system development TAS 8896573
genes like me logo Genes that share ontologies with GSS: view

Compounds for GSS Gene

(9) HMDB Compounds for GSS Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Gamma-Glutamylcysteine
  • (Des-Gly)-Glutathione
636-58-8
Glutathione
  • 5-L-Glutamyl-L-cysteinylglycine
70-18-8
Glycine
  • 2-Aminoacetate
56-40-6

(6) Drugbank Compounds for GSS Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Adenosine-5'-Diphosphate
20398-34-9 target
Gamma-Glutamylcysteine
686-58-8 target
Glutathione
  • 5-L-Glutamyl-L-cysteinylglycine
70-18-8 target
Glycine
  • 2-Aminoacetic acid
56-40-6 target
L-Cysteine
  • (R)-2-Amino-3-mercaptopropanoic acid
52-90-4 target

(32) Novoseek inferred chemical compound relationships for GSS Gene

Compound -log(P) Hits PubMed IDs
gamma-glutamylcysteine 92.3 37
pyroglutamate 77.2 4
buthionine sulfoximine 70.5 7
phytochelatin 70.5 1
glutathion 65.6 1
genes like me logo Genes that share compounds with GSS: view

Transcripts for GSS Gene

Unigene Clusters for GSS Gene

Glutathione synthetase:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GSS

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GSS Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a ·
SP1: - - - - - -
SP2: - -
SP3: - -
SP4:
SP5: -
SP6: -
SP7: - - -
SP8: - - -
SP9:
SP10:
SP11:

ExUns: 13b · 13c ^ 14 ^ 15a · 15b · 15c
SP1: - -
SP2:
SP3: - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -

Relevant External Links for GSS Gene

GeneLoc Exon Structure for
GSS
ECgene alternative splicing isoforms for
GSS

Expression for GSS Gene

mRNA expression in normal human tissues for GSS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GSS Gene

SOURCE GeneReport for Unigene cluster for GSS Gene Hs.82327

genes like me logo Genes that share expressions with GSS: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GSS Gene

Orthologs for GSS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GSS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GSS 35
  • 99.65 (n)
  • 99.79 (a)
PRNP 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GSS 35
  • 90.08 (n)
  • 91.14 (a)
GSS 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GSS 35
  • 92.19 (n)
  • 91.98 (a)
GSS 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gss 35
  • 88.33 (n)
  • 88.61 (a)
Gss 16
Gss 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GSS 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GSS 36
  • 59 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gss 35
  • 87.9 (n)
  • 88.19 (a)
chicken
(Gallus gallus)
Aves GSS 35
  • 70.32 (n)
  • 70.89 (a)
GSS 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GSS 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gss 35
  • 65.33 (n)
  • 64.56 (a)
zebrafish
(Danio rerio)
Actinopterygii gss 35
  • 62.77 (n)
  • 63.27 (a)
gss 36
  • 63 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000534 35
  • 53.33 (n)
  • 42.83 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG32495 35
  • 53.38 (n)
  • 44.05 (a)
CG32495 36
  • 35 (a)
OneToMany
GS 36
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gss-1 35
  • 47.2 (n)
  • 40.31 (a)
gss-1 36
  • 37 (a)
OneToOne
M176.2 37
  • 39 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR284C 35
  • 46.49 (n)
  • 41.16 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GSH2 35
  • 45.42 (n)
  • 37.8 (a)
GSH2 36
  • 34 (a)
OneToOne
GSH2 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F07557g 35
  • 46.84 (n)
  • 39.42 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons GSH2 35
  • 50.44 (n)
  • 44.6 (a)
rice
(Oryza sativa)
Liliopsida Os11g0642800 35
  • 50.04 (n)
  • 42.06 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06191 35
  • 50.36 (n)
  • 41.48 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gsa1 35
  • 46.38 (n)
  • 40.49 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3374 36
  • 43 (a)
OneToOne
Species with no ortholog for GSS:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GSS Gene

ENSEMBL:
Gene Tree for GSS (if available)
TreeFam:
Gene Tree for GSS (if available)

Paralogs for GSS Gene

No data available for Paralogs for GSS Gene

Variants for GSS Gene

Sequence variations from dbSNP and Humsavar for GSS Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs9369 -- 34,928,556(-) CCCCT(C/T)ATCAG utr-variant-3-prime
rs734111 -- 34,945,933(+) CCCCC(A/C)ATGCT intron-variant
rs1051103 -- 34,928,601(-) CTGCT(C/T)TGAGG utr-variant-3-prime
rs1063574 -- 34,928,690(-) TCCAT(C/T)TGAGG utr-variant-3-prime
rs1801310 -- 34,929,211(+) CTGGT(A/G)AGGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GSS Gene

Variant ID Type Subtype PubMed ID
nsv912860 CNV Gain 21882294
nsv833962 CNV Loss 17160897

Relevant External Links for GSS Gene

HapMap Linkage Disequilibrium report
GSS
Human Gene Mutation Database (HGMD)
GSS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GSS Gene

Disorders for GSS Gene

(2) OMIM Diseases for GSS Gene (601002)

UniProtKB/Swiss-Prot

GSHB_HUMAN
  • Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]: Severe form characterized by an increased rate of hemolysis and defective function of the central nervous system. {ECO:0000269 PubMed:8896573, ECO:0000269 PubMed:9215686}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Glutathione synthetase deficiency of erythrocytes (GLUSYNDE) [MIM:231900]: Mild form causing hemolytic anemia. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for GSS Gene

(9) Novoseek inferred disease relationships for GSS Gene

Disease -log(P) Hits PubMed IDs
glutathione synthetase deficiency 99 57
anemia hemolytic 70.4 6
metabolic acidosis 61.6 4
hemolysis 28.7 3
bacterial infections 5.43 1

Genatlas disease for GSS Gene

pyroglutamicaciduria,including a severe form characterized by acute metabolic acidosis from the neonatal period,hemolytic anemia progressive encephalopathy and 5-oxyprolinuria. A milder form is restricted to erythrocyctes

Relevant External Links for GSS

Genetic Association Database (GAD)
GSS
Human Genome Epidemiology (HuGE) Navigator
GSS
genes like me logo Genes that share disorders with GSS: view

Publications for GSS Gene

  1. Sequencing and expression of a cDNA for human glutathione synthetase. (PMID: 7646467) Gali R.R. … Board P.G. (Biochem. J. 1995) 3 4 23
  2. Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction. (PMID: 9215686) Dahl N. … Board P. (Hum. Mol. Genet. 1997) 3 4 23
  3. Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. (PMID: 8896573) Shi Z.-Z. … Lieberman M.W. (Nat. Genet. 1996) 3 4 23
  4. The gene encoding human glutathione synthetase (GSS) maps to the long arm of chromosome 20 at band 11.2. (PMID: 8825653) Webb G.C. … Board P.G. (Genomics 1995) 2 3 23
  5. Molecular basis of glutathione synthetase deficiency and a rare gene permutation event. (PMID: 10369661) Polekhina G. … Parker M.W. (EMBO J. 1999) 3 4 23

Products for GSS Gene

Sources for GSS Gene

Back to Top

Content