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GCLC Gene

protein-coding   GIFtS: 67
GCID: GC06M053409

Glutamate-Cysteine Ligase, Catalytic Subunit


(Previous symbols: GLCLC, GLCL)
  See GCLC-related diseases
at  

(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
Glutamate-Cysteine Ligase, Catalytic Subunit1 2     GCL2
GLCLC1 2 3 5     GCS2
GLCL1 2 3     gamma-ECS2
Gamma-Glutamylcysteine Synthetase2 3     Glutamate--Cysteine Ligase Catalytic Subunit2
GCS Heavy Chain2 3     Gamma-ECS3
EC 6.3.2.23 8     

External Ids:    HGNC: 43111   Entrez Gene: 27292   Ensembl: ENSG000000010847   OMIM: 6068575   UniProtKB: P485063   

Export aliases for GCLC gene to outside databases

Previous GC identifers: GC06M053365 GC06M053408 GC06M053470 GC06M053193


(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 GCLC Gene:
Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate-limiting enzyme of
glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory
subunit. This locus encodes the catalytic subunit, while the regulatory subunit is derived from a different gene
located on chromosome 1p22-p21. Mutations at this locus have been associated with hemolytic anemia due to
deficiency of gamma-glutamylcysteine synthetase and susceptibility to myocardial infarction.(provided by RefSeq,
Oct 2010)

GeneCards Summary for GCLC Gene:
GCLC (glutamate-cysteine ligase, catalytic subunit) is a protein-coding gene. Diseases associated with GCLC include hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, and myocardial infarction. GO annotations related to this gene include ADP binding and protein heterodimerization activity.

Gene Wiki entry for GCLC Gene


(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 at NCBI GenBank:
NC_000006.11  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the GCLC gene promoter:
         TBP   Max1   AML1a   AP-1   ATF-2   SREBP-1a   Nkx6-1   c-Jun   Pax-4a   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGCLC promoter sequence
   Search Chromatin IP Primers for GCLC

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


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

Entrez Gene cytogenetic band: 6p12   Ensembl cytogenetic band:  6p12.1   HGNC cytogenetic band: 6p12

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

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M053409:  view genomic region     (about GC identifiers)

Start:
53,362,139 bp from pter      End:
53,481,768 bp from pter
Size:
119,630 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: GSH1_HUMAN, P48506 (See protein sequence)
Recommended Name: Glutamate--cysteine ligase catalytic subunit  
Size: 637 amino acids; 72766 Da
Subunit: Heterodimer of a catalytic heavy chain and a regulatory light chain
Secondary accessions: Q14399

Explore the universe of human proteins at neXtProt for GCLC: NX_P48506

Explore proteomics data for GCLC at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GCLC (P48506) (see all 8)
     MIEGTPG  ALSAASP  INVPIFKD  CLQVTFQA 


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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001184044.1  NP_001489.1  

    ENSEMBL proteins: 
     ENSP00000229416   ENSP00000426578   ENSP00000421228   ENSP00000421908   ENSP00000421629  
     ENSP00000424211   ENSP00000423615   ENSP00000427403  
    Reactome Protein details: P48506

    GCLC Human Recombinant Protein Products:

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    OriGene MassSpec for GCLC
    OriGene Custom Protein Services for GCLC
    GenScript Custom Purified and Recombinant Proteins Services for GCLC
    Novus Biologicals GCLC Proteins
    Novus Biologicals GCLC Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GCLC

     
    Search eBioscience for Proteins for GCLC 

     
    antibodies-online proteins for GCLC (10 products) 

     
    antibodies-online peptides for GCLC

    GCLC Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for GCLC
    Cloud-Clone Corp. Antibodies for GCLC
    ThermoFisher Antibody for GCLC
    antibodies-online antibodies for GCLC (76 products) 

    GCLC Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for GCLC
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GCLC
    Cloud-Clone Corp. CLIAs for GCLC
    Search eBioscience for ELISAs for GCLC 
    antibodies-online kits for GCLC (18 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR004308 GCS

    Graphical View of Domain Structure for InterPro Entry P48506

    ProtoNet protein and cluster: P48506

    1 Blocks protein domain: IPB004308 Glutamate-cysteine ligase catalytic subunit

    UniProtKB/Swiss-Prot: GSH1_HUMAN, P48506
    Similarity: Belongs to the glutamate--cysteine ligase type 3 family


    Find genes that share domains with GCLC           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GSH1_HUMAN, P48506
    Catalytic activity: ATP + L-glutamate + L-cysteine = ADP + phosphate + gamma-L-glutamyl-L-cysteine
    Enzyme regulation: Feedback inhibition by glutathione

         Enzyme Number (IUBMB): EC 6.3.2.21 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IDA24639
    GO:0004357glutamate-cysteine ligase activity IMP16183645
    GO:0005524ATP binding IEA--
    GO:0016595glutamate binding IDA9841880
    GO:0043531ADP binding IDA24639
         
    Find genes that share ontologies with GCLC           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for GCLC:
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 

         11 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Gclc):
     cellular  embryogenesis  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  liver/biliary system  mortality/aging  nervous system  normal 
     vision/eye 

    Find genes that share phenotypes with GCLC           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GCLC: Gclctm1Dwn Gclctm1Mwl

       genOway: Develop your customized and physiologically relevant rodent model for GCLC

    miRNA
    Products:
        
    miRTarBase miRNAs that target GCLC:
    hsa-mir-155-5p (MIRT021012)

    Block miRNA regulation of human, mouse, rat GCLC using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GCLC (see all 35):
    hsa-miR-30d hsa-miR-4275 hsa-miR-30a hsa-miR-133a hsa-miR-433 hsa-miR-548e hsa-miR-548o hsa-miR-1
    SwitchGear 3'UTR luciferase reporter plasmidGCLC 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GCLC
    Predesigned siRNA for gene silencing in human, mouse, rat GCLC

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GCLC

    Clone
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    OriGene clones in human, mouse for GCLC (see all 10)
    OriGene ORF clones in mouse, rat for GCLC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): GCLC (NM_001498)
    Sino Biological Human cDNA Clone for GCLC
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GCLC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GCLC

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for GCLC
    Browse ESI BIO Cell Lines and PureStem Progenitors for GCLC 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GCLC


    (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

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IBA--
    GO:0005829cytosol TAS--
    GO:0017109glutamate-cysteine ligase complex IEA--

    Find genes that share ontologies with GCLC           About GenesLikeMe


    (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 GCLC About   (see all 8)  
    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
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Biological oxidations
    Biological oxidations0.56
    Phase II conjugation0.56
    4One carbon pool by folate
    Trans-sulfuration and one carbon metabolism0.43
    5Sulfur amino acid metabolism
    Sulfur amino acid metabolism0.35


    Find genes that share SuperPaths with GCLC           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for GCLC
        Glutathione metabolism

    4 BioSystems Pathways for GCLC
        Keap1-Nrf2 Pathway
    Oxidative Stress
    Glutathione metabolism
    Trans-sulfuration and one carbon metabolism


    2 Reactome Pathways for GCLC
        Glutathione synthesis and recycling
    Sulfur amino acid metabolism


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

    UniProtKB/Swiss-Prot: GSH1_HUMAN, P48506
    Pathway: Sulfur metabolism; glutathione biosynthesis; glutathione from L-cysteine and L-glutamate: step 1/2

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

              Mitochondria in human mouse rat
              Oxidative Stress in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat
              Hepatotoxicity in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GCLC

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

    Selected Interacting proteins for GCLC (P485063 ENSP000002294164) via UniProtKB, MINT, STRING, and/or I2D (see all 104)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTHP329293, ENSP000003599764I2D: score=1 STRING: ENSP00000359976
    RANP628263, ENSP000003961274I2D: score=1 STRING: ENSP00000396127
    GCLMP485073, ENSP000003592584I2D: score=5 STRING: ENSP00000359258
    ALDH18A1P548863, ENSP000003602684I2D: score=1 STRING: ENSP00000360268
    GSSP486373, ENSP000002169514I2D: score=1 STRING: ENSP00000216951
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 26):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000096sulfur amino acid metabolic process TAS--
    GO:0006534cysteine metabolic process IDA2294991
    GO:0006536glutamate metabolic process IDA12663448
    GO:0006749glutathione metabolic process ----
    GO:0006750glutathione biosynthetic process TAS--

    Find genes that share ontologies with GCLC           About GenesLikeMe



    (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
       Enzo Life Sciences drugs & compounds for GCLC
      Browse compounds at ApexBio 

    Browse Tocris compounds for GCLC (GSH1)

    7 HMDB Compounds for GCLC    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--
    FamotidineAmfamox (see all 83)76824-35-6--
    Gamma-Glutamylcysteine(Des-Gly)-Glutathione (see all 18)636-58-8--
    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--

    3 DrugBank Compounds for GCLC    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Cysteine(R)-2-Amino-3-mercaptopropanoic acid (see all 13)52-90-4target--15695431 17615559
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--17139284 17016423
    Vitamin Ealpha-Tocopherol (see all 2)59-02-9enzymeinducer20153624

    Selected Novoseek inferred chemical compound relationships for GCLC gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gamma-glutamylcysteine 95.1 61 10733945 (2), 7789189 (2), 10733484 (2), 1350904 (1) (see all 53)
    tbhq 75.5 11 15988009 (4)
    4-hydroxynonenal 66.8 8 19651797 (2), 17173895 (1), 17263920 (1), 15683710 (1) (see all 5)
    beta-naphthoflavone 65.9 6 10559251 (2), 9614065 (1), 16426233 (1)
    buthionine sulfoximine 63.3 5 16183247 (2), 9610371 (1)
    pdtc 56.5 6 10559251 (2), 11353135 (1), 10051436 (1)
    diethylmaleate 55 3 9146705 (2)
    melphalan 40.3 4 7969079 (2), 7585502 (1)
    n acetylcysteine 39.4 6 11909699 (1), 17980396 (1), 19328227 (1)
    cystine 35 1 17615559 (1)

    1 PharmGKB related drug/compound annotation for GCLC gene    About this table
    Drug/compound PharmGKB Annotation
    sulfamethoxazoleCA  



    Find genes that share compounds with GCLC           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GCLC gene (2 alternative transcripts): 
    NM_001197115.1  NM_001498.3  

    Unigene Cluster for GCLC:

    Glutamate-cysteine ligase, catalytic subunit
    Hs.654465  [show with all ESTs]
    Unigene Representative Sequence: NM_001498
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000509541(uc003pbv.1) ENST00000229416(uc003pbw.2 uc021zau.1)
    ENST00000515580 ENST00000510837 ENST00000504353 ENST00000514373 ENST00000504525
    ENST00000514004(uc003pbx.3) ENST00000505294 ENST00000513939 ENST00000514933
    ENST00000505197
    miRNA
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    Block miRNA regulation of human, mouse, rat GCLC using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GCLC (see all 35):
    hsa-miR-30d hsa-miR-4275 hsa-miR-30a hsa-miR-133a hsa-miR-433 hsa-miR-548e hsa-miR-548o hsa-miR-1
    SwitchGear 3'UTR luciferase reporter plasmidGCLC 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GCLC
    Clone
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    OriGene ORF clones in mouse, rat for GCLC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): GCLC (NM_001498)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GCLC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GCLC
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for GCLC
    OriGene qSTAR qPCR primer pairs in human, mouse for GCLC
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GCLC
      QuantiTect SYBR Green Assays in human, mouse, rat GCLC
      QuantiFast Probe-based Assays in human, mouse, rat GCLC

    Additional mRNA sequence: 

    AB262176.1 AB516284.1 AK094940.1 AK304288.1 AK313480.1 BC022487.1 BC039894.1 BC047788.1 
    M90656.1 

    19 DOTS entries:

    DT.91773141  DT.100026507  DT.40112168  DT.121352350  DT.97847882  DT.40190095  DT.100018039  DT.121352291 
    DT.100799685  DT.92027584  DT.92430847  DT.91747697  DT.100646590  DT.91672152  DT.95272740  DT.100010169 
    DT.100655923  DT.40240168  DT.99934421 

    Selected AceView cDNA sequences (see all 281):

    BQ226047 AI494447 AV646189 AA418788 BC022487 CB305973 AW778854 AW300541 
    BQ719192 AL121379 AA311367 AI014488 AA355230 CA307714 AA723957 AI538813 
    AI360595 BF971454 BM854173 AI093285 BM966843 CB851734 BI712053 AI801501 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GCLC (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17
    SP1:        -                             -                 -     -                       -                 -                       -               
    SP2:        -                             -                                                                                                         
    SP3:                                      -                                                                                                         
    SP4:                                      -                                                                                                         
    SP5:                                                                                                        -                                       


    ECgene alternative splicing isoforms for GCLC

    (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)
    About This Section

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    GCLC expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATTTTGGAT
    GCLC Expression
    About this image


    GCLC 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 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Secondary Spermatocyte Seminiferous Tubules
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Kidney (Urinary System)
             Metanephros
     
     Gonad
             Secondary Spermatocyte Seminiferous Tubules
    GCLC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GCLC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654465
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GCLC: 
              Mitochondria in human mouse rat
              Oxidative Stress in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat
              Hepatotoxicity in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for GCLC
    OriGene qSTAR qPCR primer pairs in human, mouse for GCLC
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GCLC
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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 animals and fungi.

    Orthologs for GCLC gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gclc1 , 5 glutamate-cysteine ligase, catalytic subunit1, 5 88.57(n)1
    94.65(a)1
      9 (43.36 cM)5
    146291  NM_010295.21  NP_034425.11 
     777545355 
    chicken
    (Gallus gallus)
    Aves GCLC1 glutamate-cysteine ligase, catalytic subunit 80.11(n)
    91.55(a)
      421894  XM_419910.3  XP_419910.3 
    lizard
    (Anolis carolinensis)
    Reptilia GCLC6
    glutamate-cysteine ligase, catalytic subunit
    88(a)
    1 ↔ 1
    1(151408652-151445680)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.38372 Xenopus laevis transcribed sequence with moderate similarity more 79.87(n)    CF285514.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gclc2 glutamate-cysteine ligase, catalytic subunit 76.41(n)   326857  BC045303.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gclc1 , 3 glutathione biosynthesis
    glutamate-cysteine ligase3
    Glutamate-cysteine ligase catalytic subunit1
    62(a)3
    57.92(n)1
    59.01(a)1
      535811  NM_080266.21  NP_525005.21 
    worm
    (Caenorhabditis elegans)
    Secernentea gcs-11 gcs-1 56.88(n)
    56.18(a)
      174438  NM_063526.5  NP_495927.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GSH1(YJL101C)4
    GSH11
    Gamma glutamylcysteine synthetase catalyzes the first more4
    GSH11
    53.51(n)1
    47.96(a)1
      10(236356-234320)4
    8533441, 4  NP_012434.11, 4 


    ENSEMBL Gene Tree for GCLC (if available)
    TreeFam Gene Tree for GCLC (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 GCLC (see all 1151)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0135144
    Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD)4--see VAR_0135142 H L mis40--------
    VAR_0211104
    Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD)4--see VAR_0211102 R C mis40--------
    VAR_0154034
    Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD)4--see VAR_0154032 P L mis40--------
    rs2004507331,2
    C--53200594(+) GTTGC-/TTTTTTT 2 -- int10--------
    rs30638311,2
    C--53200602(+) TTTTT-/T/TT  
            
    CAAGA
    2 -- int1 trp31NA 2
    rs77470531,2
    C--53208286(+) GGGGGG/TGGGGG 2 -- int1 trp30--------
    rs178829981,2
    C,F--53210241(-) GTGAGG/-TGGTT 2 -- int11Minor allele frequency- -:0.05NS 172
    rs58763171,2
    C--53212166(+) AAGAG-/AAAAAA 2 -- int1 trp31Minor allele frequency- A:0.00CSA 2
    rs356120641,2
    C--53236577(+) CCTCA-/A/AA  
            
    AAAAA
    2 -- int10--------
    rs178861901,2
    C,F--53273195(-) CACTTT/CTCTCA 2 -- ds50013Minor allele frequency- C:0.12NS WA EA 400

    HapMap Linkage Disequilibrium report for GCLC (53362139 - 53481768 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for GCLC: --
    Human Gene Mutation Database (HGMD): GCLC
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GCLC
    DNA2.0 Custom Variant and Variant Library Synthesis for GCLC

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606857   
    OMIM disorders: 230450  608446  
    UniProtKB/Swiss-Prot: GSH1_HUMAN, P48506
  • Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) [MIM:230450]: A disease
    characterized by hemolytic anemia, glutathione deficiency, myopathy, late-onset spinocerebellar degeneration, and
    peripheral neuropathy. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for GCLC:    
    About MalaCards
    hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency    myocardial infarction    hemolytic anemia


    Find genes that share disorders with GCLC           About GenesLikeMe

    6 Novoseek inferred disease relationships for GCLC gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anemia hemolytic 29.4 2 18024385 (1), 10733484 (1)
    prostate carcinoma 8.25 3 1355406 (1), 7969079 (1)
    hepatocellular carcinoma 5.08 1 10051436 (1)
    cancer 4.55 3 11353130 (2)
    metastasis 0 1 9181229 (1)
    tumors 0 7 11353130 (2), 10683268 (1), 9181229 (1), 7969079 (1) (see all 5)

    Genetic Association Database (GAD): GCLC
    Human Genome Epidemiology (HuGE) Navigator: GCLC (30 documents)

    Export disorders for GCLC 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 GCLC gene, integrated from 10 sources (see all 196):
    (articles sorted by number of sources associating them with GCLC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and nucleotide sequence of a full-length cDNA for human liver gamma-glutamylcysteine synthetase. (PubMed id 1350904)1, 2, 3, 9 Gipp J.J.... Mulcahy R.T. (Biochem. Biophys. Res. Commun. 1992)
    2. A novel missense mutation in the gamma-glutamylcysteine synthetase catalytic subunit gene causes both decreased enzymatic activity and glutathione production. (PubMed id 12663448)1, 2, 4 Hamilton D.... Batist G. (Blood 2003)
    3. Association of polymorphism in glutamate-cysteine ligase catalytic subunit gene with coronary vasomotor dysfunction and myocardial infarction. (PubMed id 12598062)1, 4, 9 Koide S....Ogawa H. (J. Am. Coll. Cardiol. 2003)
    4. A missense mutation in the heavy subunit of gamma-glutamylcysteine synthetase gene causes hemolytic anemia. (PubMed id 10733484)1, 2, 9 Ristoff E....Roos D. (Blood 2000)
    5. Glutamate cysteine ligase catalytic subunit promoter polymorphisms and associations with type 1 diabetes age-at-onset and GAD65 autoantibody levels. (PubMed id 17479437)1, 4, 9 Bekris L.M....Lernmark A. (amp 2007)
    6. Variants in the glutamate-cysteine-ligase gene are associated with cystic fibrosis lung disease. (PubMed id 16690975)1, 4, 9 McKone E.F....Kavanagh T.J. (Am. J. Respir. Crit. Care Med. 2006)
    7. Lung function loss, smoking, vitamin C intake, and polymorphisms of the glutamate-cysteine ligase genes. (PubMed id 18420959)1, 4, 9 Siedlinski M....Boezen H.M. (Am. J. Respir. Crit. Care Med. 2008)
    8. Genetic analysis of CC16, OGG1 and GCLC polymorphisms and susceptibility to COPD. (PubMed id 17207022)1, 4, 9 Liu S....Ran P. (Respirology 2007)
    9. Association of polymorphisms of glutamate-cystein ligase and microsomal triglyceride transfer protein genes in non-alcoholic fatty liver disease. (PubMed id 19817962)1, 4, 9 Oliveira C.P....CorrA-a-Giannella M.L. (J. Gastroenterol. Hepatol. 2010)
    10. Genetic background of lead and mercury metabolism in a group of medical students in Austria. (PubMed id 19515364)1, 4, 9 Gundacker C....Gencik M. (Environ. Res. 2009)

    (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: 2729 HGNC: 4311 AceView: GCLC Ensembl:ENSG00000001084 euGenes: HUgn2729
    ECgene: GCLC Kegg: 2729 H-InvDB: GCLC

    (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 GCLC Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/gclc/

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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