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GGT1 Gene

protein-coding   GIFtS: 70
GCID: GC22P024980

Gamma-Glutamyltransferase 1


(Previous symbol: GGT)
  See 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
Gamma-Glutamyltransferase 11 2 3     D22S6722
GGT1 2 3 5     D22S7322
Glutathione Hydrolase 12 3     GTG2
Leukotriene-C4 Hydrolase2 3     Gamma-Glutamyltranspeptidase 12
GGT 12 3     EC 3.4.19.133
EC 2.3.2.23 8     EC 3.4.19.143
CD2242     CD224 Antigen3

External Ids:    HGNC: 42501   Entrez Gene: 26782   Ensembl: ENSG000001000317   OMIM: 6123465   UniProtKB: P194403   

Export aliases for GGT1 gene to outside databases

Previous GC identifers: GC22P021675 GC22M021675 GC22P023304 GC22P007929


(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 GGT1 Gene:
The enzyme encoded by this gene is a type I gamma-glutamyltransferase that catalyzes the transfer of the glutamyl
moiety of glutathione to a variety of amino acids and dipeptide acceptors. The enzyme is composed of a heavy
chain and a light chain, which are derived from a single precursor protein. It is expressed in tissues involved
in absorption and secretion and may contribute to the etiology of diabetes and other metabolic disorders.
Multiple alternatively spliced variants have been identified. There are a number of related genes present on
chromosomes 20 and 22, and putative pseudogenes for this gene on chromosomes 2, 13, and 22. (provided by RefSeq,
Jan 2014)

GeneCards Summary for GGT1 Gene:
GGT1 (gamma-glutamyltransferase 1) is a protein-coding gene. Diseases associated with GGT1 include glutathioninuria, and glutathionuria. GO annotations related to this gene include glutathione hydrolase activity and gamma-glutamyltransferase activity. An important paralog of this gene is GGT6.

UniProtKB/Swiss-Prot: GGT1_HUMAN, P19440
Function: Cleaves the gamma-glutamyl bond of extracellular glutathione (gamma-Glu-Cys-Gly), glutathione
conjugates, and other gamma-glutamyl compounds. The metabolism of glutathione releases free glutamate and the
dipeptide, cysteinyl-glycine, which is hydrolyzed to cysteine and glycine by dipeptidases. In the presence of
high concentrations of dipeptides and some amino acids, can also catalyze a transpeptidation reaction,
transferring the gamma-glutamyl moiety to an acceptor amino acid to form a new gamma-glutamyl compound. Initiates
extracellular glutathione (GSH) breakdown, provides cells with a local cysteine supply and contributes to
maintain intracellular GSH level. It is part of the cell antioxidant defense mechanism. Isoform 3 seems to be
inactive

Gene Wiki entry for GGT1 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:
NC_000022.11  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the GGT1 gene promoter:
         YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GGT1 promoter sequence
   Search Chromatin IP Primers for GGT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GGT1


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

Entrez Gene cytogenetic band: 22q11.23   Ensembl cytogenetic band:  22q11.23   HGNC cytogenetic band: 22q11.23

GGT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GGT1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P024980:  view genomic region     (about GC identifiers)

Start:
24,979,718 bp from pter      End:
25,024,972 bp from pter
Size:
45,255 bases      Orientation:
plus 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GGT1_HUMAN, P19440 (See protein sequence)
Recommended Name: Gamma-glutamyltranspeptidase 1 precursor  
Size: 569 amino acids; 61410 Da
Subunit: Heterodimer composed of the light and heavy chains. The active site is located in the light chain
Miscellaneous: Cys-454 was thought to bind the gamma-glutamyl moiety, but mutagenesis of this residue had no
effect on activity
Miscellaneous: Chloride ions bound in the active site cavity may contribute to stabilize the protein fold
Sequence caution: Sequence=AAA35899.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for GGT1:
4GDX (3D)        4GG2 (3D)    
Secondary accessions: Q08247 Q14404 Q8TBS1 Q9UMK1
Alternative promoter usage, Alternative splicing: 3 isoforms:  P19440-1   P19440-2   P19440-3   (Produced by alternative promoter usage)

Explore the universe of human proteins at neXtProt for GGT1: NX_P19440

Explore proteomics data for GGT1 at MOPED

Post-translational modifications: 

  • N-glycosylated on both chains. Contains hexoses, hexosamines and sialic acid residues. Glycosylation profiles
    tested in kidney and liver tissues reveal the presence of tissue-specific and site-specific glycan composition,
    despite the overlap in composition among the N-glycans. A total of 36 glycan compositions, with 40 unique
    structures are observed. Up to 15 different glycans are observed at a single site, with site-specific variation
    in glycan composition. The difference in glycosylation profiles in the 2 tissues do not affect the enzyme
    activity1
  • Cleaved by autocatalysis into a large and a small subunit and the autocatalytic cleavage is essential to the
    functional activation of the enzyme1
  • Ubiquitination2 at Lys181
  • Glycosylation2 at Asn95, Asn120, Asn230, Asn266, Asn297, Asn344, Asn511
  • Selected DME Specific Peptides for GGT1 (P19440) (see all 15)
     LCEVFCR  TIYNSTT  PSPANFI  VVQAIVRT 


    See GGT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_038265.2  NP_038347.2  NP_001275762.1  

    ENSEMBL proteins: 
     ENSP00000248923   ENSP00000415129   ENSP00000389935   ENSP00000393537   ENSP00000393135  
     ENSP00000395271   ENSP00000383232   ENSP00000403826   ENSP00000415553   ENSP00000408151  
     ENSP00000383231   ENSP00000415024   ENSP00000417044   ENSP00000400621   ENSP00000398589  
     ENSP00000387796   ENSP00000415068   ENSP00000387499   ENSP00000384381   ENSP00000385445  
     ENSP00000384820   ENSP00000385016   ENSP00000385001   ENSP00000383233   ENSP00000385975  
    Reactome Protein details: P19440

    GGT1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for GGT1
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    Novus Biologicals GGT1 Proteins
    Novus Biologicals GGT1 Lysates
    Sino Biological Recombinant Protein for GGT1
    Sino Biological Cell Lysate for GGT1
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    GGT1 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for GGT1

    GGT1 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    GGT: Gamma-glutamyltransferases

    1 InterPro protein domain:
     IPR000101 GGT_peptidase

    Graphical View of Domain Structure for InterPro Entry P19440

    ProtoNet protein and cluster: P19440

    1 Blocks protein domain: IPB000101 Gamma-glutamyltranspeptidase

    UniProtKB/Swiss-Prot: GGT1_HUMAN, P19440
    Similarity: Belongs to the gamma-glutamyltransferase family


    GGT1 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: GGT1_HUMAN, P19440
    Function: Cleaves the gamma-glutamyl bond of extracellular glutathione (gamma-Glu-Cys-Gly), glutathione
    conjugates, and other gamma-glutamyl compounds. The metabolism of glutathione releases free glutamate and the
    dipeptide, cysteinyl-glycine, which is hydrolyzed to cysteine and glycine by dipeptidases. In the presence of
    high concentrations of dipeptides and some amino acids, can also catalyze a transpeptidation reaction,
    transferring the gamma-glutamyl moiety to an acceptor amino acid to form a new gamma-glutamyl compound. Initiates
    extracellular glutathione (GSH) breakdown, provides cells with a local cysteine supply and contributes to
    maintain intracellular GSH level. It is part of the cell antioxidant defense mechanism. Isoform 3 seems to be
    inactive
    Catalytic activity: A (5-L-glutamyl)-peptide + an amino acid = a peptide + a 5-L-glutamyl amino acid
    Catalytic activity: Glutathione + H(2)O = L-cysteinylglycine + L-glutamate
    Catalytic activity: Leukotriene C(4) + H(2)O = leukotriene D(4) + L-glutamate
    Enzyme regulation: Activated by autocatalytic cleavage

         Genatlas biochemistry entry for GGT1:
    gamma-glutamyltransferase 1,expressed in placenta,sigmoid tissues,gamma-glutamyl cycle

         Enzyme Numbers (IUBMB): EC 2.3.2.21 2 EC 3.4.19.131 EC 3.4.19.141

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003840gamma-glutamyltransferase activity TAS18357469
    GO:0005515protein binding IPI15528406
    GO:0036374glutathione hydrolase activity IDA--
         
    GGT1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GGT1:
     Increased G1 DNA content 

         12 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ggt1):
     endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     integument  limbs/digits/tail  mortality/aging  pigmentation  reproductive system 
     skeleton  vision/eye 

    GGT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ggt1tm1Zuk for GGT1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GGT1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GGT1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GGT1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GGT1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat GGT1 using miScript Target Protectors
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    SwitchGear 3'UTR luciferase reporter plasmidGGT1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat GGT1

    Gene Editing
    Products:
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    Clone
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    OriGene clones in human, mouse for GGT1 (see all 24)
    OriGene ORF clones in mouse, rat for GGT1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): GGT1 (NM_001032364)
    Sino Biological Human cDNA Clone for GGT1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GGT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GGT1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GGT1


    (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 UniProtKB/Swiss-Prot
    GGT1_HUMAN, P19440: Cell membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular3
    endoplasmic reticulum2
    mitochondrion2
    nucleus2
    peroxisome2
    chloroplast1
    cytoskeleton1
    cytosol1
    golgi apparatus1
    lysosome1
    vacuole1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0031362anchored component of external side of plasma membrane TAS18357469
    GO:0070062extracellular vesicular exosome IDA--

    GGT1 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 GGT1 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Glutathione metabolism
    Glutathione metabolism0.65
    Glutathione metabolism0.45
    Glutathione metabolism0.65
    glutathione-mediated detoxification I0.42
    Glutathione conjugation0.60
    Glutathione synthesis and recycling0.00
    2Arachidonic acid metabolism
    Arachidonic acid metabolism0.41
    Synthesis of Leukotrienes (LT) and Eoxins (EX)0.00
    Arachidonic acid metabolism0.40
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    4Biological oxidations
    Biological oxidations0.56
    Phase II conjugation0.56
    5Taurine and hypotaurine metabolism
    Taurine and hypotaurine metabolism0.31
    Cyanoamino acid metabolism0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for GGT1
        Glutathione metabolism

    5 BioSystems Pathways for GGT1
        Eicosanoid Synthesis
    glutathione-mediated detoxification I
    Selenium Pathway
    Glutathione metabolism
    gamma-glutamyl cycle


    2 Reactome Pathways for GGT1
        Glutathione synthesis and recycling
    Synthesis of Leukotrienes (LT) and Eoxins (EX)

    2 PharmGKB Pathways for GGT1
        Busulfan Pathway, Pharmacodynamics
    Leukotriene modifiers pathway, Pharmacodynamics

    5 Kegg Pathways  (Kegg details for GGT1):
        Taurine and hypotaurine metabolism
    Cyanoamino acid metabolism
    Glutathione metabolism
    Arachidonic acid metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: GGT1_HUMAN, P19440
    Pathway: Sulfur metabolism; glutathione metabolism


    GGT1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GGT1
    Interactions:

        GeneGlobe Interaction Network for GGT1

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

    Selected Interacting proteins for GGT1 (P194402, 3 ENSP000002489234) via UniProtKB, MINT, STRING, and/or I2D (see all 61)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    NAMPTP434902, 3, ENSP000002225534MINT-6538755 I2D: score=1 STRING: ENSP00000222553
    CD53P193973, ENSP000002713244I2D: score=1 STRING: ENSP00000271324
    KCNMA1Q127913, ENSP000002866274I2D: score=1 STRING: ENSP00000286627
    ECSITQ9BQ953I2D: score=2 
    KPNA4O006293I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002682regulation of immune system process ISS--
    GO:0006508proteolysis ----
    GO:0006520cellular amino acid metabolic process TAS2904146
    GO:0006536glutamate metabolic process IDA--
    GO:0006691leukotriene metabolic process TAS--

    GGT1 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 drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GGT1

    Selected HMDB Compounds for GGT1 (see all 15)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Leukotriene F4LTF4 (see all 3)--3001504
    5-L-Glutamyl-taurine5-Glutamyl-taurine ----
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    CysteinylglycineL-Cysteinylglycine (see all 5)19246-18-5--
    FamotidineAmfamox (see all 83)76824-35-6--
    Gamma-Glutamyl-Se-methylselenocysteine ----
    Glutathione5-L-Glutamyl-L-cysteinylglycine (see all 32)70-18-8--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    Leukotriene C4(R-(R*,S*-(E,E,Z,Z)))-N-(S-(1-(4-carboxy-1-hydroxybutyl)-2,4,6,9-pentadecatetraenyl)-N-L-gamma-glutamyl-L-cysteinyl)-Glycine (see all 12)72025-60-6--
    Leukotriene C5LTC(,5) 75207-09-9--

    1 DrugBank Compound for GGT1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Glutathione5-L-Glutamyl-L-cysteinylglycine (see all 5)70-18-8target--17316176 17291629 17644279 17569287 17545509

    Selected Novoseek inferred chemical compound relationships for GGT1 gene (see all 136)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aspartate 87.8 476 8000794 (3), 17353691 (3), 15983331 (2), 17379020 (2) (see all 99)
    alanine 87.4 533 17353691 (3), 9695739 (2), 15983331 (2), 19593250 (2) (see all 99)
    acivicin 83.1 37 11478776 (3), 7892271 (2), 11384154 (2), 10678765 (2) (see all 23)
    ursodeoxycholic acid 80 42 8808432 (3), 14535985 (3), 7712308 (2), 19522030 (2) (see all 25)
    cysteinylglycine 78.5 27 18202323 (3), 15998246 (3), 12906924 (2), 18594967 (2) (see all 14)
    serine-borate 75.8 4 9882013 (1), 9192821 (1), 1350117 (1), 8674510 (1)
    uric acid 68.7 108 16312915 (4), 18499396 (3), 17027827 (2), 16328014 (2) (see all 79)
    cholesterol 64.1 265 1346382 (3), 8097894 (3), 16328014 (3), 18371999 (3) (see all 99)
    creatinine 61.9 196 18421185 (3), 1977540 (3), 17119530 (3), 18354148 (2) (see all 99)
    nash 60 6 17059735 (2), 16385229 (1), 17436095 (1), 8675165 (1) (see all 5)



    GGT1 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,
    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 GGT1 gene (6 alternative transcripts): 
    NM_013421.2  NM_013430.2  NM_001032364.2  NM_001032365.2  NM_005265.3  NM_001288833.1  

    Unigene Cluster for GGT1:

    Gamma-glutamyltransferase 1
    Hs.645535  [show with all ESTs]
    Unigene Representative Sequence: AL832738
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 29):
    ENST00000248923(uc003aan.1) ENST00000456869 ENST00000411974 ENST00000412658
    ENST00000445029 ENST00000419133 ENST00000400382(uc003aas.1 uc003aat.1 uc003aau.2 uc003aav.2)
    ENST00000438643 ENST00000452551 ENST00000412898 ENST00000400380(uc003aaw.2)
    ENST00000455483 ENST00000430289 ENST00000447416 ENST00000432867 ENST00000451366
    ENST00000428855 ENST00000425895
    miRNA
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    GenScript: all cDNA clones in your preferred vector (see all 4): GGT1 (NM_001032364)
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      QuantiFast Probe-based Assays in human, mouse, rat GGT1

    Additional mRNA sequence: 

    AK022307.1 AL832738.1 BC025927.1 BC035341.1 BC065921.1 BC069326.1 BC069473.1 BC069504.1 
    BC128234.1 BC128238.1 BC128239.1 CR456494.1 DQ000492.2 J04131.1 L20490.1 L20493.1 
    L20494.1 M24087.1 M24903.1 X60069.1 

    22 DOTS entries:

    DT.87016250  DT.100843149  DT.102839611  DT.120642722  DT.100016221  DT.91757197  DT.100669181  DT.91757198 
    DT.100669183  DT.120642791  DT.97855841  DT.120642658  DT.91720315  DT.100733773  DT.120642749  DT.120642831 
    DT.120642907  DT.100034647  DT.120642656  DT.120642774  DT.120642906  DT.120668227 

    Selected AceView cDNA sequences (see all 367):

    BC065921 BC025927 BE298745 L20490 BM551957 L20494 BM263989 CR456494 
    BC035341 AA310856 BG944859 BQ649885 BU164348 CR591143 BF219926 BM668578 
    BE560199 BM983367 H55502 BE295476 W23739 AI050789 BQ064444 AU077341 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for GGT1    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b
    SP1:        -     -                           
    SP2:                                          
    SP3:                          -               


    ECgene alternative splicing isoforms for GGT1

    (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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    GGT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGGCCAGG
    GGT1 Expression
    About this image


    GGT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             Metanephros
             Tubular cell-enriched subpopulation of renal cells
             Renal proximal tubularlike cells
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Lung (Respiratory System)
    GGT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GGT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.645535

    UniProtKB/Swiss-Prot: GGT1_HUMAN, P19440
    Tissue specificity: Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and
    lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative
    promoter usage but that produce the same protein

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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 GGT1 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ggt11 , 5 gamma-glutamyltransferase 11, 5 80.83(n)1
    79.49(a)1
      10 (38.55 cM)5
    145981  NM_008116.21  NP_032142.11 
     755616045 
    chicken
    (Gallus gallus)
    Aves GGT11 gamma-glutamyltransferase 1 66.6(n)
    68.65(a)
      416945  XM_004934342.1  XP_004934399.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    63(a)
    1 → many
    GL343947.1(86484-95270)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ggt11 gamma-glutamyltransferase 1 62.61(n)
    64.04(a)
      448376  NM_001006723.2  NP_001006724.2 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc641722 hypothetical protein MGC64172 73.95(n)   393387  BC054631.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG64613
    CG48291
    gamma-glutamyl transferase3
    CG48291
    45(a)
    (best of 4)3
    51.45(n)1
    41.89(a)1
      17C13
    326721  NM_001103535.21  NP_001097005.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C53D5.51 , 3 gamma-glutamyltranspeptidase3
    C53D5.51
    41(a)
    (best of 3)3
    48.7(n)1
    43.26(a)1
      I(305901-310788)3
    1716191  NM_058313.51  NP_490714.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ECM38(YLR299W)4
    ECM381
    Gamma-glutamyltranspeptidase, major glutathione-degrading more4
    ECM381
    43.48(n)1
    35.26(a)1
      12(726069-728051)4
    8510061, 4  NP_013402.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GGT21 GGT2 46.39(n)
    43.13(a)
      830119  NM_120125.2  NP_195675.2 


    ENSEMBL Gene Tree for GGT1 (if available)
    TreeFam Gene Tree for GGT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GGT1 gene
    GGT62  GGTLC12  GGT52  GGT72  GGTLC22  GGTLC32  GGT22  
    9 SIMAP similar genes for GGT1 using alignment to 20 protein entries:     GGT1_HUMAN (see all proteins):
    GGT    GGT3P    GGTLC1    GGT2    GGTLC3    GGTLC2
    GGTLA4    GGT7    GGT5

    GGT1 for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for GGT1
    PGOHUM00000246220 PGOHUM00000246221 PGOHUM00000246287 PGOHUM00000246410 PGOHUM00000246411


    (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 GGT1 (see all 1361)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2013132331,2
    C,Funtested125023893(+) TCCCAG/ACATCA 8 /N /S mis11Minor allele frequency- A:0.02EU 889
    rs1890013561,2
    --7951255(+) TATATA/TTAATA 1 -- us2k10--------
    rs1816809401,2
    --7951285(+) TATATA/TTAATA 1 -- us2k10--------
    rs1861739181,2
    --7951291(+) TAATAA/TTATAT 1 -- us2k10--------
    rs1922497041,2
    --24977825(+) TTGGAA/GAAGAA 1 -- us2k10--------
    rs57604831,2
    C,H--24977901(+) CCAGGT/GCCCAG 1 -- us2k14Minor allele frequency- G:0.00NS EA 420
    rs622311851,2
    C,F--24977952(+) CAGTTA/GCCCAA 1 -- us2k12Minor allele frequency- G:0.25NA CSA 4
    rs1846366851,2
    C--24978002(+) GATCTA/CTCCTG 1 -- us2k10--------
    rs1507119971,2
    --24978122(+) TTCTAC/TGTGTT 1 -- us2k10--------
    rs1392052311,2
    --24978181(+) CAAGGC/TAGGCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GGT1 (24979718 - 25024972 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GGT1 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2724069CNV Deletion23290073
    esv2724041CNV Deletion23290073
    esv1162534CNV Deletion17803354
    esv2724068CNV Deletion23290073
    esv2530395CNV Loss19546169
    nsv914635CNV Loss21882294
    nsv914636CNV Loss21882294
    nsv482076CNV Gain20164927
    esv25356CNV Gain19812545
    nsv526567CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GGT1
    DNA2.0 Custom Variant and Variant Library Synthesis for GGT1

    (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: 612346    OMIM disorders: --

    UniProtKB/Swiss-Prot: GGT1_HUMAN, P19440
  • Glutathionuria (GLUTH) [MIM:231950]: Autosomal recessive disease. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for GGT1 (see all 196):    
    About MalaCards
    glutathioninuria    glutathionuria    aagenaes syndrome    biliary atresia extrahepatic
    osteogenesis imperfecta type i    hepatic tuberculosis    glutathione synthetase deficiency    opisthorchiasis
    extrahepatic cholestasis    pleuropneumonia    choledocholithiasis    nodular regenerative hyperplasia
    lead poisoning    progeria    fascioliasis    vulvovaginal candidiasis
    aortic valve disease    fatty liver disease    vulvovaginitis    parotitis

    13 diseases from the University of Copenhagen DISEASES database for GGT1:
    Liver disease     Cholestasis     Substance abuse     Alcohol dependence
    Fatty liver disease     Hepatitis C     Hepatocellular carcinoma     Diabetes mellitus
    Cholangitis     Hepatitis B     Kidney disease     Gallbladder disease
    Hypertension

    GGT1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for GGT1 gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    liver diseases 81.4 106 20397813 (4), 1972004 (2), 19100265 (2), 17379020 (2) (see all 74)
    cholestasis 79.8 50 10777184 (4), 9794902 (2), 11853185 (2), 1673269 (1) (see all 39)
    fatty liver 79.7 70 15052692 (4), 16203871 (2), 19709695 (2), 16108838 (2) (see all 46)
    cholestasis intrahepatic 73.8 17 19261551 (2), 9794902 (1), 1352544 (1), 20232290 (1) (see all 15)
    liver damage 72.1 26 18354148 (2), 9468250 (2), 7903815 (1), 7913793 (1) (see all 23)
    biliary cirrhosis primary 69.6 5 15054524 (1), 7723166 (1), 10601067 (1), 12239904 (1) (see all 5)
    liver fibrosis 69.1 19 12433643 (2), 1632855 (1), 12546736 (1), 19950810 (1) (see all 17)
    alcohol abuse 68.3 40 18337017 (4), 15365303 (4), 7645101 (1), 9547899 (1) (see all 29)
    liver dysfunction 68.2 14 15983331 (1), 1362364 (1), 8199687 (1), 15780761 (1) (see all 14)
    hepatitis c chronic 68.2 11 10934805 (3), 14748879 (1), 17845689 (1), 16082285 (1) (see all 8)

    Genetic Association Database (GAD): GGT1
    Human Genome Epidemiology (HuGE) Navigator: GGT1 (8 documents)

    Export disorders for GGT1 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 GGT1 gene, integrated from 10 sources (see all 1522):
    (articles sorted by number of sources associating them with GGT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Involvement of Ser-451 and Ser-452 in the catalysis of human gamma- glutamyl transpeptidase. (PubMed id 7673200)1, 2, 9 Ikeda Y.... Meister A. (J. Biol. Chem. 1995)
    2. Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. (PubMed id 18940312)1, 4, 9 Yuan X....Mooser V. (Am. J. Hum. Genet. 2008)
    3. Gamma-glutamyl transpeptidase gene organization and expression: a comparative analysis in rat, mouse, pig and human species. (PubMed id 10392451)1, 2, 9 Chikhi N.... Laperche Y. (Comp. Biochem. Physiol. 1999)
    4. Human gamma-glutamyl transpeptidase mutants involving conserved aspartate residues and the unique cysteine residue of the light subunit. (PubMed id 7759490)1, 2, 9 Ikeda Y.... Meister A. (J. Biol. Chem. 1995)
    5. Novel insights into eukaryotic gamma-glutamyl transpeptidase 1 from the crystal structure of the glutamate-bound human enzyme. (PubMed id 24047895)1, 2 West M.B....Mooers B.H. (J. Biol. Chem. 2013)
    6. Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. (PubMed id 21909109)1, 4 Kim Y.J....Cho Y.S. (Nat. Genet. 2011)
    7. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PubMed id 22001757)1, 4 Chambers J.C....Kooner J.S. (Nat. Genet. 2011)
    8. Analysis of site-specific glycosylation of renal and hepatic gamma- glutamyl transpeptidase from normal human tissue. (PubMed id 20622017)1, 2 West M.B.... Hanigan M.H. (J. Biol. Chem. 2010)
    9. PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease. (PubMed id 20648472)1, 4 Speliotes E.K....Hirschhorn J.N. (Hepatology 2010)
    10. A candidate gene study of obstructive sleep apnea in European Americans and African Americans. (PubMed id 20538960)1, 4 Larkin E.K....Redline S. (Am. J. Respir. Crit. Care Med. 2010)

    (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: 2678 HGNC: 4250 AceView: SNRPD3andGGT1 Ensembl:ENSG00000100031 euGenes: HUgn2678
    ECgene: GGT1 Kegg: 2678 H-InvDB: GGT1

    (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 GGT1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GGT1 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Gamma_glutamyl_transpeptidase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GGT1 gene:
    Search GeneIP for patents involving GGT1

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



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