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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 58
  • 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 Glutathione metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and peptide binding.

Additional gene information for GSS Gene

No data available for CIViC summary , 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

Enhancers for GSS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H034921 1.3 Ensembl ENCODE dbSUPER 11.5 +33.5 33520 2 FOXA2 RAD21 RFX5 YY1 ZNF766 RCOR1 FOS DEK CEBPB REST PIGU GSS MIR499A EDEM2 MMP24-AS1 NCOA6 GC20P034899 MYH7B
GH20H034925 0.8 ENCODE dbSUPER 11.8 +28.7 28663 3 JUND POLR2A JUN SCRT2 RCOR1 TCF7L2 PIGU GSS MIR499A NCOA6 MMP24 PROCR GC20P034899 MYH7B
GH20H035317 2.1 VISTA FANTOM5 Ensembl ENCODE dbSUPER 2.5 -363.8 -363757 5 PKNOX1 FOXA2 ARNT FEZF1 GLIS2 FOS ATF7 SP3 YY2 TSHZ1 UQCC1 EIF6 FAM83C MMP24 FAM83C-AS1 MMP24-AS1 NCOA6 EDEM2 RBM12 MIR499A
GH20H034929 0.4 dbSUPER 12.4 +25.3 25254 1 PAF1 POLR2A PIGU GSS MIR499A NCOA6 MMP24 PROCR MYH7B GC20P034899
GH20H034934 0.2 dbSUPER 12.5 +20.4 20374 2 PIGU MAP1LC3A GSS MIR499A EDEM2 NCOA6 MYH7B GC20P034899
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GSS on UCSC Golden Path with GeneCards custom track

Promoters for GSS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000136484 392 1201 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

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

Selected DME Specific Peptides for GSS Gene

P48637:
  • LPGQPEAVARLRATFAGLYSLD
  • ALKQIEINT
  • KILSNNPSKGLA
  • DGGVAAGVAVLDNPY
  • KPQREGGGNN
  • QCISELGIFGVYVR
  • TLVMNKHVGHLLRTKA
  • AVVYFRDGYMP
  • VLLIAQEKERNIFDQRA
  • NCLLRPGSPA
  • DRALAEGVLLR
  • ASFGGLASRTPAVH

Post-translational modifications for GSS Gene

  • Ubiquitination at posLast=112112 and posLast=400400
  • Modification sites at PhosphoSitePlus

Other Protein References for GSS Gene

Antibody Products

Domains & Families for GSS Gene

Gene Families for GSS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

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

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

Phenotypes From GWAS Catalog 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:0005515 protein binding IPI 21044950
GO:0005524 ATP binding IDA 10369661
GO:0016594 glycine binding IEA --
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

  • Taconic Biosciences Mouse Models for GSS

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GSS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Localization for GSS Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GSS gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 3
mitochondrion 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GSS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IBA,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 & 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:0006750 glutathione biosynthetic process TAS --
GO:0006979 response to oxidative stress TAS 465367
GO:0007399 nervous system development TAS 8896573
GO:0007568 aging IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutathione Approved Nutra Target 0
Glycine Approved, Vet_approved Nutra Full agonist, Agonist, Target 243
L-Cysteine Approved Nutra Target 0
Acetylcysteine Approved, Investigational Pharma Target, stimulator Antioxidant;mucolytic agent 343
Copper Approved Pharma Target 188

(22) 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
genes like me logo Genes that share compounds with GSS: view

Transcripts for GSS Gene

mRNA/cDNA for GSS Gene

Unigene Clusters for GSS Gene

Glutathione synthetase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GSS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for GSS Gene



Protein tissue co-expression partners for GSS Gene

NURSA nuclear receptor signaling pathways regulating expression of GSS Gene:

GSS

SOURCE GeneReport for Unigene cluster for GSS Gene:

Hs.82327

Evidence on tissue expression from TISSUES for GSS Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Lung(4.7)
  • Kidney(4.6)
  • Intestine(4.4)
  • Eye(2.7)
  • Blood(2.6)
  • Skin(2.6)
  • Heart(2)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GSS Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • nervous
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • eye
  • head
Abdomen:
  • kidney
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • red blood cell
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with GSS: view

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
chimpanzee
(Pan troglodytes)
Mammalia PRNP 34
  • 100 (a)
OneToOne
GSS 33
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia GSS 33 34
  • 92.19 (n)
cow
(Bos Taurus)
Mammalia GSS 33 34
  • 90.08 (n)
mouse
(Mus musculus)
Mammalia Gss 33 16 34
  • 88.33 (n)
rat
(Rattus norvegicus)
Mammalia Gss 33
  • 87.9 (n)
oppossum
(Monodelphis domestica)
Mammalia GSS 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GSS 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves GSS 33 34
  • 70.32 (n)
lizard
(Anolis carolinensis)
Reptilia GSS 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gss 33
  • 65.33 (n)
zebrafish
(Danio rerio)
Actinopterygii gss 33 34
  • 62.77 (n)
fruit fly
(Drosophila melanogaster)
Insecta GS 33 34
  • 53.38 (n)
CG32495 34
  • 35 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000534 33
  • 53.33 (n)
worm
(Caenorhabditis elegans)
Secernentea gss-1 33 34
  • 47.2 (n)
M176.2 35
  • 39 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F07557g 33
  • 46.84 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR284C 33
  • 46.49 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GSH2 33 34 36
  • 45.42 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons GSH2 33
  • 50.44 (n)
rice
(Oryza sativa)
Liliopsida Os11g0642800 33
  • 50.04 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06191 33
  • 50.36 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gsa1 33
  • 46.38 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3374 34
  • 43 (a)
OneToOne
Species where no ortholog for GSS was found in the sources mined by GeneCards:
  • 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
rs121909308 Pathogenic, Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] 34,935,611(-) ACTTC(C/T)GGGAT reference, missense
rs121909309 Pathogenic, Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] 34,932,121(-) AAGCA(C/T)GTCTA reference, missense
rs148640446 Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] 34,931,980(+) GAGGC(A/G)GGCCA reference, missense
rs28938472 Pathogenic, Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] 34,936,976(-) ATTTG(A/G)CCAGC reference, missense
rs759253242 Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] 34,951,776(+) CCAGG(G/T)CCCGG reference, missense

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

Variant ID Type Subtype PubMed ID
nsv1055447 CNV loss 25217958
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

Human Gene Mutation Database (HGMD)
GSS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GSS

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

Disorders for GSS Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
glutathione synthetase deficiency
  • 5-oxoprolinase deficiency
hemolytic anemia due to glutathione synthetase deficiency
  • glutathione synthetase deficiency without 5-oxoprolinuria
metabolic acidosis
hemolytic anemia
  • anemia hemolytic
cystinosis
  • cystine storage disease
- 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:27581854, 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. Molecular basis of glutathione synthetase deficiency and a rare gene permutation event. (PMID: 10369661) Polekhina G … Parker MW (The EMBO journal 1999) 3 4 22 60
  2. Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. (PMID: 8896573) Shi ZZ … Lieberman MW (Nature genetics 1996) 3 4 22 60
  3. The gene encoding human glutathione synthetase (GSS) maps to the long arm of chromosome 20 at band 11.2. (PMID: 8825653) Webb GC … Board PG (Genomics 1995) 2 3 22 60
  4. Sequencing and expression of a cDNA for human glutathione synthetase. (PMID: 7646467) Gali RR … Board PG (The Biochemical journal 1995) 3 4 22 60
  5. Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population. (PMID: 20485444) Wang Y … Huang W (Journal of human genetics 2010) 3 45 60

Products for GSS Gene

Sources for GSS Gene

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