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Aliases for GSS Gene

Aliases for GSS Gene

  • Glutathione Synthetase 2 3 5
  • Glutathione Synthase 3 4
  • GSH Synthetase 3 4
  • EC 6.3.2.3 4 63
  • GSH-S 3 4
  • HEL-S-64p 3
  • HEL-S-88n 3
  • GSHS 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 Phase II conjugation. GO annotations related to this gene include protein homodimerization activity and peptide 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

Promoters for GSS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GSS on UCSC Golden Path with GeneCards custom track

Genomic Location for GSS Gene

Chromosome:
20
Start:
34,928,430 bp from pter
End:
34,955,992 bp from pter
Size:
27,563 bases
Orientation:
Minus strand

Genomic View for GSS Gene

Genes around GSS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GSS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    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 Lys 112 and Lys 400
  • Modification sites at PhosphoSitePlus

Other Protein References for GSS Gene

Antibody Products

Domains & Families for GSS Gene

Suggested Antigen Peptide Sequences for GSS Gene

Graphical View of Domain Structure for InterPro Entry

P48637

UniProtKB/Swiss-Prot:

GSHB_HUMAN :
  • Belongs to the eukaryotic GSH synthase family.
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:0005515 protein binding IPI 21044950
genes like me logo Genes that share ontologies with GSS: view
genes like me logo Genes that share phenotypes with GSS: view

Human Phenotype Ontology for GSS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GSS Gene

MGI Knock Outs for GSS:

Animal Model Products

No data available for Transcription Factor Targets 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 5
extracellular 5
nucleus 3
mitochondrion 2
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for GSS Gene

Pathways & Interactions for GSS Gene

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

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:0006979 response to oxidative stress TAS 465367
GO:0031667 response to nutrient levels IEA --
GO:0034612 response to tumor necrosis factor IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with GSS: view

No data available for SIGNOR curated interactions for GSS Gene

Drugs & Compounds for GSS Gene

(17) Drugs for GSS Gene - From: Novoseek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutathione Approved Nutra Target 0
Glycine Approved Nutra Full agonist, Agonist, Target Endogenous potentiator, co-transmitter 94
L-Cysteine Approved Nutra Target 0
Acetylcysteine Approved Pharma Target, stimulator Antioxidant;mucolytic agent 293
Adenosine triphosphate Approved Nutra 0

(25) Additional Compounds for GSS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
Phosphite
  • Hyopophosphite
  • Hypophosphorous acid
  • Orthophosphite
  • Phosphinate
  • Phosphinic acid
14901-63-4
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with GSS: view

Transcripts for GSS Gene

Unigene Clusters for GSS Gene

Glutathione synthetase:
Representative Sequences:

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 in normal tissues and cell lines 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 expression patterns with GSS: view

Protein tissue co-expression partners for GSS Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein 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
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
rat
(Rattus norvegicus)
Mammalia Gss 35
  • 87.9 (n)
  • 88.19 (a)
oppossum
(Monodelphis domestica)
Mammalia GSS 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gss 36
  • 89 (a)
OneToOne
Gss 16
Gss 35
  • 88.33 (n)
  • 88.61 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia GSS 36
  • 59 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PRNP 36
  • 100 (a)
OneToOne
GSS 35
  • 99.65 (n)
  • 99.79 (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 M176.2 37
  • 39 (a)
gss-1 35
  • 47.2 (n)
  • 40.31 (a)
gss-1 36
  • 37 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR284C 35
  • 46.49 (n)
  • 41.16 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F07557g 35
  • 46.84 (n)
  • 39.42 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GSH2 35
  • 45.42 (n)
  • 37.8 (a)
GSH2 36
  • 34 (a)
OneToOne
GSH2 38
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
VAR_003602 Glutathione synthetase deficiency (GSS deficiency)
VAR_003603 Glutathione synthetase deficiency (GSS deficiency)
VAR_003604 Glutathione synthetase deficiency (GSS deficiency)
rs28938472 Glutathione synthetase deficiency (GSS deficiency) 34,936,976(-) ATTTG(A/G)CCAGC reference, missense
VAR_003606 Glutathione synthetase deficiency (GSS deficiency)

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

Variation tolerance for GSS Gene

Residual Variation Intolerance Score: 61.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.76; 33.33% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(9) MalaCards diseases for GSS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GSS in MalaCards View complete list of genes associated with diseases

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.

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GSS
genes like me logo Genes that share disorders with GSS: view

Publications for GSS Gene

  1. Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. (PMID: 8896573) Shi Z.-Z. … Lieberman M.W. (Nat. Genet. 1996) 3 4 23 67
  2. Inborn errors in the metabolism of glutathione. (PMID: 17397529) Ristoff E. … Larsson A. (Orphanet J Rare Dis 2007) 23 25 26
  3. Antioxidant defenses preserve membrane transport activity in Chironomus riparius larvae exposed to anoxia. (PMID: 17630655) Forcella M. … Parenti P. (Arch. Insect Biochem. Physiol. 2007) 23 25 26
  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. Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study. (PMID: 19111905) Burstedt M.S. … Wachtmeister L. (Ophthalmology 2009) 3 23

Products for GSS Gene

Sources for GSS Gene

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