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GSS Gene

protein-coding   GIFtS: 70
GCID: GC20M033517

Glutathione Synthetase

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Glutathione Synthetase1 2     GSHS2 5
Glutathione Synthase2 3     HEL-S-64p2
GSH-S2 3     HEL-S-88n2
GSH Synthetase2 3     Epididymis Secretory Sperm Binding Protein Li 64p2
EC 6.3.2.33 8     Epididymis Secretory Sperm Binding Protein Li 88n2

External Ids:    HGNC: 46241   Entrez Gene: 29372   Ensembl: ENSG000001009837   OMIM: 6010025   UniProtKB: P486373   

Export aliases for GSS gene to outside databases

Previous GC identifers: GC20M033274 GC20M034184 GC20M034232 GC20M034233 GC20M032980 GC20M030294


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include glycine binding and protein homodimerization activity.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GSS gene promoter:
         PPAR-alpha   AML1a   USF-1   STAT3   Ik-3   HNF-4alpha1   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGSS promoter sequence
   Search Chromatin IP Primers for GSS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GSS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q11.2   Ensembl cytogenetic band:  20q11.22   HGNC cytogenetic band: 20q11.2

GSS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GSS gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M033517:  view genomic region     (about GC identifiers)

Start:
33,516,236 bp from pter      End:
33,543,620 bp from pter
Size:
27,385 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GSHB_HUMAN, P48637 (See protein sequence)
Recommended Name: Glutathione synthetase  
Size: 474 amino acids; 52385 Da
Cofactor: Binds 1 magnesium ion per subunit
Subunit: Homodimer
1 PDB 3D structure from and Proteopedia for GSS:
2HGS (3D)    
Secondary accessions: B2R697 B6F210 E1P5P9 Q4TTD9
Alternative splicing: 2 isoforms:  P48637-1   P48637-2   (Detected in colon, kidney, lung, liver, placenta, peripheral blood and uterus, but not in heart, skeletal muscle and spleen)

Explore the universe of human proteins at neXtProt for GSS: NX_P48637

Explore proteomics data for GSS at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys12, Lys112, Lys400
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GSS (P48637) (see all 12)
     ALKQIEINT  KPQREGGGNN  NCLLRPGSPA  DRALAEGVLLR 


    See GSS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000169.1  
    ENSEMBL proteins: 
     ENSP00000216951   ENSP00000407517   ENSP00000439744  
    Reactome Protein details: P48637

    GSS Human Recombinant Protein Products:

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    Novus Biologicals GSS Proteins
    Novus Biologicals GSS Lysate
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    ProSpec Recombinant Protein for GSS
    Cloud-Clone Corp. Proteins for GSS

    GSS Antibody Products:

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    Cloud-Clone Corp. CLIAs for GSS


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR014049 Glutathione_synthase_N_euk
     IPR014042 Glutathione_synthase_a-hlx_euk
     IPR016185 PreATP-grasp_dom
     IPR014709 Glutathione_synthase_dom
     IPR004887 Glutathione_synth_subst-bd_euk

    Graphical View of Domain Structure for InterPro Entry P48637

    ProtoNet protein and cluster: P48637

    1 Blocks protein domain: IPB004887 Eukaryotic glutathione synthase

    UniProtKB/Swiss-Prot: GSHB_HUMAN, P48637
    Similarity: Belongs to the eukaryotic GSH synthase family


    GSS for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GSHB_HUMAN, P48637
    Catalytic activity: ATP + gamma-L-glutamyl-L-cysteine + glycine = ADP + phosphate + glutathione

         Genatlas biochemistry entry for GSS:
    glutathione synthetase,52.4kDa

         Enzyme Number (IUBMB): EC 6.3.2.31 2

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IDA10369661
    GO:0004363glutathione synthase activity TAS--
    GO:0005524ATP binding IDA10369661
    GO:0016594glycine binding IEA--
    GO:0042277peptide binding ----
         
    GSS for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Gss):
     mortality/aging 

    GSS for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gsstm1Wink for GSS

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GSS
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GSS

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GSS
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GSS

    miRNA
    Products:
        
    miRTarBase miRNAs that target GSS:
    hsa-mir-331-3p (MIRT043308), hsa-mir-92b-3p (MIRT040592), hsa-mir-193b-3p (MIRT041404)

    Block miRNA regulation of human, mouse, rat GSS using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate GSS:
    hsa-miR-3910 hsa-miR-124 hsa-miR-506 hsa-miR-1910 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidGSS 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GSS

    Gene Editing
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    OriGene ORF clones in mouse, rat for GSS
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    GenScript: all cDNA clones in your preferred vector: GSS (NM_000178)
    Sino Biological Human cDNA Clone for GSS
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GSS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GSS

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GSS


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion2
    nucleus2
    chloroplast1
    extracellular1
    peroxisome1
    plasma membrane1
    vacuole1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    GSS for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GSS About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Glutathione metabolism
    Glutathione metabolism0.65
    Glutathione metabolism0.45
    Glutathione metabolism0.65
    Glutathione synthesis and recycling0.00
    Glutathione conjugation0.60
    2Biological oxidations
    Biological oxidations0.56
    metapathway biotransformation0.42
    Phase II conjugation0.56
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4One carbon pool by folate
    Trans-sulfuration and one carbon metabolism0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for GSS
        Glutathione metabolism

    3 BioSystems Pathways for GSS
        Glutathione metabolism
    metapathway biotransformation
    Trans-sulfuration and one carbon metabolism


    1 Reactome Pathway for GSS
        Glutathione synthesis and recycling


    2 Kegg Pathways  (Kegg details for GSS):
        Glutathione metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: GSHB_HUMAN, P48637
    Pathway: Sulfur metabolism; glutathione biosynthesis; glutathione from L-cysteine and L-glutamate: step 2/2


    GSS for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GSS: 

              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GSS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GSS (P486372, 3 ENSP000002169514) via UniProtKB, MINT, STRING, and/or I2D (see all 74)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GAPDHP044062, 3, ENSP000002292394MINT-6540721 I2D: score=1 STRING: ENSP00000229239
    IRF3Q146532, 3, ENSP000003101274MINT-6540711 I2D: score=1 STRING: ENSP00000310127
    GSTZ1O437083, ENSP000002164654I2D: score=2 STRING: ENSP00000216465
    GCLCP485063, ENSP000002294164I2D: score=1 STRING: ENSP00000229416
    PCSK1P291203, ENSP000003080244I2D: score=1 STRING: ENSP00000308024
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006520cellular amino acid metabolic process TAS8896573
    GO:0006750glutathione biosynthetic process TAS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0006979response to oxidative stress TAS465367
    GO:0007399nervous system development TAS8896573

    GSS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GSS (GSHB)

    9 HMDB Compounds for GSS    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Gamma-Glutamylcysteine(Des-Gly)-Glutathione (see all 18)636-58-8--
    Glutathione5-L-Glutamyl-L-cysteinylglycine (see all 32)70-18-8--
    Glycine2-Aminoacetate (see all 15)56-40-6--
    L-Cysteine(+)-2-Amino-3-mercaptopropionic acid (see all 37)52-90-4--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    PhosphiteHyopophosphite (see all 11)14901-63-4--

    6 DrugBank Compounds for GSS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Glutathione5-L-Glutamyl-L-cysteinylglycine (see all 5)70-18-8target--17467761 17607728 17630655 17401648 17452339
    Glycine2-Aminoacetic acid (see all 4)56-40-6target--17397529 17124497 17401648 16996193 17452339
    Gamma-Glutamylcysteine-- 686-58-8target--17139284 17016423 10592235
    Phosphoaminophosphonic Acid-Adenylate Ester-- --target--17139284 17016423 10592235
    Adenosine-5'-Diphosphate-- 20398-34-9target--17139284 17016423
    L-Cysteine(R)-2-Amino-3-mercaptopropanoic acid (see all 13)52-90-4target--16940754

    Selected Novoseek inferred chemical compound relationships for GSS gene (see all 32)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gamma-glutamylcysteine 92.3 42 1945285 (1), 8432334 (1), 9724699 (1), 12442906 (1) (see all 37)
    pyroglutamate 77.2 5 8295398 (2), 18072147 (1), 8896573 (1)
    buthionine sulfoximine 70.5 8 2121508 (1), 16671059 (1), 16820894 (1), 9135855 (1) (see all 7)
    phytochelatin 70.5 1 16477125 (1)
    glutathion 65.6 1 10569625 (1)
    gssg 54.1 2 7903354 (1), 15286141 (1)
    acivicin 54 2 16671059 (1)
    n acetylcysteine 52.7 2 16671059 (1), 8301428 (1)
    cysteine 42.2 9 8432334 (1), 15887520 (1), 1411253 (1), 16477124 (1) (see all 8)
    arsenite 37.6 3 14530437 (1), 12018983 (1), 18779381 (1)



    GSS for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GSS gene: 
    NM_000178.2  

    Unigene Cluster for GSS:

    Glutathione synthetase
    Hs.82327  [show with all ESTs]
    Unigene Representative Sequence: BC007927
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000216951(uc010zuo.2 uc002xbg.3 uc010zup.2 uc010gez.1)
    ENST00000451957 ENST00000541098(uc010zun.2)

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    5 qRT-PCR Assays for microRNAs that regulate GSS:
    hsa-miR-3910 hsa-miR-124 hsa-miR-506 hsa-miR-1910 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidGSS 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GSS
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    GenScript: all cDNA clones in your preferred vector: GSS (NM_000178)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GSS
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for GSS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GSS
      QuantiTect SYBR Green Assays in human, mouse, rat GSS
      QuantiFast Probe-based Assays in human, mouse, rat GSS

    Additional mRNA sequence: 

    AB459500.1 AK293144.1 AK298292.1 AK311421.1 AK311567.1 AK312492.1 BC007927.1 U34683.1 

    16 DOTS entries:

    DT.100799504  DT.446685  DT.95087411  DT.120802389  DT.120802451  DT.95087408  DT.95087451  DT.120802334 
    DT.100038434  DT.100825211  DT.100825224  DT.100808857  DT.120802421  DT.120802414  DT.120802348  DT.95355346 

    Selected AceView cDNA sequences (see all 507):

    BI060053 BU181575 BU543058 BQ653049 CB131146 BM787260 AA365005 CR596201 
    CR617218 BQ668349 BQ439136 CR620374 CF541350 BU526950 BG180142 BM928699 
    BE876241 BM742499 CD250993 BM924503 BU539842 BM749331 BE795288 BQ678723 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GSS (see all 11)    About this scheme

    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:                                                                                                                                            -               

    ExUns: 13b · 13c ^ 14 ^ 15a · 15b · 15c
    SP1:        -     -                     
    SP2:                                    
    SP3:  -     -     -                     
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for GSS

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GSS expression in normal human tissues (normalized intensities)      GSS embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACCCTGCCC
    GSS Expression
    About this image


    GSS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Eye (Sensory Organs)
             Lens
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    GSS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GSS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.82327
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GSS: 
              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for GSS
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GSS gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gss1 , 5 glutathione synthetase1, 5 88.33(n)1
    88.61(a)1
      2 (77.26 cM)5
    148541  NM_008180.11  NP_032206.11 
     1555631815 
    chicken
    (Gallus gallus)
    Aves GSS1 glutathione synthetase 70.32(n)
    70.89(a)
      428135  XM_004946977.1  XP_004947034.1 
    lizard
    (Anolis carolinensis)
    Reptilia GSS6
    glutathione synthetase
    69(a)
    1 ↔ 1
    4(135364886-135387709)
    African clawed frog
    (Xenopus laevis)
    Amphibia X69662.12   -- 75.1(n)    X69662.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gss1 glutathione synthetase 62.77(n)
    63.27(a)
      450084  NM_001006104.1  NP_001006104.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG324951 CG32495 53.38(n)
    44.05(a)
      318053  NM_167589.2  NP_728116.1 
    worm
    (Caenorhabditis elegans)
    Secernentea M176.23
    gss-11
    glutathione synthase3
    gss-11
    39(a)3
    47.2(n)1
    40.31(a)1
      II(9414622-9416341)3
    1744931  NM_063610.51  NP_496011.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GSH2(YOL049W)4
    GSH21
    Glutathione synthetase, catalyzes the ATP-dependent more4
    GSH21
    45.42(n)1
    37.8(a)1
      15(238619-240094)4
    8541081, 4  NP_014593.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GSH21 GSH2 50.44(n)
    44.6(a)
      832797  NM_122620.3  NP_568495.2 
    rice
    (Oryza sativa)
    Liliopsida Os11g06428001 Os11g0642800 50.04(n)
    42.06(a)
      4351008  NM_001074888.1  NP_001068356.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GSS (see all 571)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1486404461,2,,4
    C,FGlutathione synthetase deficiency (GSS deficiency)4 --33522970(+) GAGGCG/AGGCCA 2 /R /C mis12Minor allele frequency- A:0.00NA EU 5629
    VAR_0036134
    Glutathione synthetase deficiency (GSS deficiency)4--see VAR_0036132 G V mis40--------
    VAR_0036024
    Glutathione synthetase deficiency (GSS deficiency)4--see VAR_0036022 A D mis40--------
    VAR_0036144
    Glutathione synthetase deficiency (GSS deficiency)4--see VAR_0036142 D E mis40--------
    VAR_0036044
    Glutathione synthetase deficiency (GSS deficiency)4--see VAR_0036042 D A mis40--------
    VAR_0036084
    Glutathione synthetase deficiency (GSS deficiency)4--see VAR_0036082 Y C mis40--------
    VAR_0036114
    Glutathione synthetase deficiency (GSS deficiency)4--see VAR_0036112 L Q mis40--------
    VAR_0036094
    Glutathione synthetase deficiency (GSS deficiency)4--see VAR_0036092 Y H mis40--------
    VAR_0036034
    Glutathione synthetase deficiency (GSS deficiency)4--see VAR_0036032 L P mis40--------
    VAR_0036104
    Glutathione synthetase deficiency (GSS deficiency)4--see VAR_0036102 R C mis40--------

    HapMap Linkage Disequilibrium report for GSS (33516236 - 33543620 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GSS:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833962CNV Loss17160897
    nsv912860CNV Gain21882294

    Human Gene Mutation Database (HGMD): GSS
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GSS
    DNA2.0 Custom Variant and Variant Library Synthesis for GSS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601002   
    OMIM disorders: 231900  266130  
    UniProtKB/Swiss-Prot: GSHB_HUMAN, P48637
  • Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]: Severe form characterized by an
    increased rate of hemolysis and defective function of the central nervous system. 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

  • Selected diseases for GSS (see all 44):    About MalaCards
    glutathione synthetase deficiency    hemolytic anemia due to glutathione synthetase deficiency    fatal familial insomnia    huntington disease-like 1
    genetic prion diseases    metabolic acidosis    gerstmann-straussler-scheinker disease    insomnia
    anoxia    familial creutzfeldt-jakob disease    prion disease    cystinosis
    alcohol abuse    cone dystrophy    hemolytic anemia    small cell carcinoma
    fatty liver disease    cataract    chronic myeloid leukemia    amyloidosis

    1 disease from the University of Copenhagen DISEASES database for GSS:
    Metabolic acidosis

    GSS for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    9 Novoseek inferred disease relationships for GSS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutathione synthetase deficiency 99 58 7623442 (4), 15617191 (3), 14635114 (3), 15243982 (3) (see all 36)
    anemia hemolytic 70.4 7 8896573 (2), 16435214 (1), 8634459 (1), 9679548 (1) (see all 5)
    metabolic acidosis 61.6 5 15519833 (1), 18072147 (1), 8896573 (1), 17397529 (1)
    hemolysis 28.7 3 15519833 (1), 8301428 (1), 11167850 (1)
    bacterial infections 5.43 1 17397529 (1)
    genetic disorder 0 1 9215686 (1)
    necrosis 0 1 16728981 (1)
    cataract 0 3 1945285 (1), 8098321 (1)
    tumors 0 5 7659181 (2), 17234469 (1), 16728981 (1)

    Genatlas disease: GSS
    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

    Genetic Association Database (GAD): GSS
    Human Genome Epidemiology (HuGE) Navigator: GSS (106 documents)

    Export disorders for GSS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GSS gene, integrated from 10 sources (see all 194):
    (articles sorted by number of sources associating them with GSS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. (PubMed id 8896573)1, 2, 9 Shi Z.-Z....Lieberman M.W. (Nat. Genet. 1996)
    2. Sequencing and expression of a cDNA for human glutathione synthetase. (PubMed id 7646467)1, 2, 9 Gali R.R. and Board P.G. (Biochem. J. 1995)
    3. Molecular basis of glutathione synthetase deficiency and a rare gene permutation event. (PubMed id 10369661)1, 2, 9 Polekhina G.... Parker M.W. (EMBO J. 1999)
    4. The gene encoding human glutathione synthetase (GSS) maps to the long arm of chromosome 20 at band 11.2. (PubMed id 8825653)1, 3, 9 Webb G.C....Board P.G. (Genomics 1995)
    5. Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction. (PubMed id 9215686)1, 2, 9 Dahl N.... Board P. (Hum. Mol. Genet. 1997)
    6. Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population. (PubMed id 20485444)1, 4 Wang Y....Huang W. (J. Hum. Genet. 2010)
    7. Glutathione pathway genetic polymorphisms and lung cancer survival after platinum-based chemotherapy. (PubMed id 20200426)1, 4 Moyer A.M....Weinshilboum R.M. (amp 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    9. Alternative RNA splicing in expression of the glutathione synthetase gene in human cells. (PubMed id 19672693)1, 2 Uchida M.... Hisatomi H. (Mol. Biol. Rep. 2010)
    10. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. (PubMed id 18977241)1, 4 Starr J.M....Deary I.J. (Mech. Ageing Dev. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2937 HGNC: 4624 AceView: GSS Ensembl:ENSG00000100983 euGenes: HUgn2937
    ECgene: GSS Kegg: 2937 H-InvDB: GSS

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GSS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GSS[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/gss/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GSS gene:
    Search GeneIP for patents involving GSS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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