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GGT5 Gene

protein-coding   GIFtS: 54
GCID: GC22M024615

Gamma-Glutamyltransferase 5

(Previous name: gamma-glutamyltransferase-like activity 1)
(Previous symbol: GGTLA1)
  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 51 2     GGT-REL2
Gamma-Glutamyltransferase-Like Activity 11 2 3     Gamma-Glutamyl Cleaving Enzyme2
GGTLA11 2 3     Gamma-Glutamyl Transpeptidase-Related Protein2
Gamma-Glutamyl Transpeptidase-Related Enzyme2 3     EC 2.3.2.23
Gamma-Glutamyltranspeptidase 52 3     EC 3.4.19.133
Glutathione Hydrolase 52 3     EC 3.4.19.143
Leukotriene-C4 Hydrolase2 3     GGT-rel3
GGT 52 3     

External Ids:    HGNC: 42601   Entrez Gene: 26872   Ensembl: ENSG000000999987   OMIM: 1371685   UniProtKB: P362693   

Export aliases for GGT5 gene to outside databases

Previous GC identifers: GC22M022945 GC22M007564


(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 GGT5 Gene:
This gene is a member of a gene family that encodes gamma-glutamyl transpeptidase enzymes. This enzyme consists of
a heavy and a light chain, and is able to hydrolyze the gamma-glutamyl moiety of glutathione. It converts
leukotriene C4 to leukotriene D4, however, it doesn't convert synthetic substrates that are commonly used to
assay gamma-glutamyl transpeptidase. Three transcript variants encoding different isoforms have been found for
this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for GGT5 Gene:
GGT5 (gamma-glutamyltransferase 5) is a protein-coding gene. Diseases associated with GGT5 include glutathionuria, and amyotrophic lateral sclerosis. 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: GGT5_HUMAN, P36269
Function: Cleaves the gamma-glutamyl peptide bond of glutathione conjugates, but maybe not glutathione itself.
Converts leukotriene C4 (LTC4) to leukotriene D4 (LTD4)

Gene Wiki entry for GGT5 (GGTLA1) 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  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GGT5 gene promoter:
         Tal-1beta   E47   Meis-1b   YY1   HNF-4alpha1   GATA-2   HOXA5   Meis-1a   LyF-1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGGT5 promoter sequence
   Search Chromatin IP Primers for GGT5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GGT5


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

GGT5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GGT5 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M024615:  view genomic region     (about GC identifiers)

Start:
24,615,622 bp from pter      End:
24,641,110 bp from pter
Size:
25,489 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: GGT5_HUMAN, P36269 (See protein sequence)
Recommended Name: Gamma-glutamyltransferase 5 precursor  
Size: 586 amino acids; 62261 Da
Subunit: Heterodimer composed of the light and heavy chains. The active site is located in the light chain (By
similarity)
Sequence caution: Sequence=CAB55910.1; Type=Frameshift; Positions=446;
Secondary accessions: Q53XM9 Q6GMP0 Q96FC1 Q9UFM5
Alternative splicing: 3 isoforms:  P36269-1   P36269-2   P36269-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GGT5: NX_P36269

Explore proteomics data for GGT5 at MOPED

Post-translational modifications: 

  • Cleaved by autocatalysis into a large and a small subunit (By similarity)1
  • Glycosylation2 at Asn98, Asn204, Asn303, Asn347, Asn535, Asn550

  • See GGT5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001093251.1  NP_001093252.1  NP_004112.2  

    ENSEMBL proteins: 
     ENSP00000263112   ENSP00000330080   ENSP00000402917   ENSP00000381340   ENSP00000412964  
     ENSP00000392146  
    Reactome Protein details: P36269

    GGT5 Human Recombinant Protein Products:

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

    1 InterPro protein domain:
     IPR000101 GGT_peptidase

    Graphical View of Domain Structure for InterPro Entry P36269

    ProtoNet protein and cluster: P36269

    1 Blocks protein domain: IPB000101 Gamma-glutamyltranspeptidase

    UniProtKB/Swiss-Prot: GGT5_HUMAN, P36269
    Similarity: Belongs to the gamma-glutamyltransferase family


    GGT5 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: GGT5_HUMAN, P36269
    Function: Cleaves the gamma-glutamyl peptide bond of glutathione conjugates, but maybe not glutathione itself.
    Converts leukotriene C4 (LTC4) to leukotriene D4 (LTD4)
    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 Numbers (IUBMB): EC 2.3.2.21 EC 3.4.19.131 EC 3.4.19.141

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003840gamma-glutamyltransferase activity TAS18357469
    GO:0036374glutathione hydrolase activity IEA--
         
    GGT5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GGT5:
     Decreased cilium length after  

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ggt5):
     growth/size/body  immune system  integument  mortality/aging  pigmentation 
     reproductive system  vision/eye 

    GGT5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ggt5tm1Mwl for GGT5

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    hsa-mir-335-5p (MIRT018343), hsa-mir-346 (MIRT004224)

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    5 qRT-PCR Assays for microRNAs that regulate GGT5:
    hsa-miR-612 hsa-miR-330-5p hsa-miR-326 hsa-miR-1285 hsa-miR-1269
    SwitchGear 3'UTR luciferase reporter plasmidGGT5 3' UTR sequence
    Inhib. RNA
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    (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
    GGT5_HUMAN, P36269: Membrane; Single-pass type II membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular2
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    lysosome1
    peroxisome1

    Gene Ontology (GO): 3 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

    GGT5 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 GGT5 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Glutathione metabolism
    Glutathione metabolism0.65
    Glutathione metabolism0.45
    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


    2 BioSystems Pathways for GGT5
        Glutathione metabolism
    gamma-glutamyl cycle

    2 Reactome Pathways for GGT5
        Glutathione synthesis and recycling
    Synthesis of Leukotrienes (LT) and Eoxins (EX)


    5 Kegg Pathways  (Kegg details for GGT5):
        Taurine and hypotaurine metabolism
    Cyanoamino acid metabolism
    Glutathione metabolism
    Arachidonic acid metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: GGT5_HUMAN, P36269
    Pathway: Sulfur metabolism; glutathione metabolism
    Pathway: Lipid metabolism; leukotriene D4 biosynthesis


    GGT5 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GGT5
    Interactions:

        Search GeneGlobe Interaction Network for GGT5

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

    Selected Interacting proteins for GGT5 (ENSP000003813404) via UniProtKB, MINT, STRING, and/or I2D (see all 48)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ANPEPENSP000003000604STRING: ENSP00000300060
    CSADENSP000002670854STRING: ENSP00000267085
    GCLCENSP000002294164STRING: ENSP00000229416
    GPX1ENSP000004073754STRING: ENSP00000407375
    GPX2ENSP000003742654STRING: ENSP00000374265
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0006520cellular amino acid metabolic process TAS1676842
    GO:0006691leukotriene metabolic process TAS--
    GO:0006749glutathione metabolic process TAS18357469
    GO:0006750glutathione biosynthetic process IEA--

    GGT5 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 GGT5

    Selected HMDB Compounds for GGT5 (see all 14)    About this table
    CompoundSynonyms CAS #PubMed Ids
    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--
    Leukotriene D4LTD (see all 4)73836-78-9--



    (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 GGT5 gene (3 alternative transcripts): 
    NM_001099781.1  NM_001099782.1  NM_004121.2  

    Unigene Cluster for GGT5:

    Gamma-glutamyltransferase 5
    Hs.437156  [show with all ESTs]
    Unigene Representative Sequence: NM_001099781
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263112 ENST00000327365(uc002zzp.4 uc002zzo.4 uc002zzr.4 uc002zzq.4 uc011ajm.2 uc011ajn.1)
    ENST00000425408 ENST00000398292 ENST00000424217 ENST00000418439
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    hsa-miR-612 hsa-miR-330-5p hsa-miR-326 hsa-miR-1285 hsa-miR-1269
    SwitchGear 3'UTR luciferase reporter plasmidGGT5 3' UTR sequence
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    Additional mRNA sequence: 

    AK225661.1 AK226019.1 AK292006.1 AK293683.1 AK297869.1 AK304522.1 AK312401.1 AL117414.1 
    BC011362.1 BC073999.1 BT009808.1 CT841518.1 M64099.1 

    14 DOTS entries:

    DT.312254  DT.100778999  DT.102839610  DT.120674816  DT.100024629  DT.100646110  DT.100698451  DT.100719482 
    DT.100798954  DT.102825674  DT.120642071  DT.120674804  DT.40272767  DT.445682 

    Selected AceView cDNA sequences (see all 114):

    BU731125 BX425817 CN482822 CA427232 BC073999 H55249 BQ182506 BQ716895 
    CR591358 BX104188 CR602504 CA430450 BT009808 BM694514 BM695539 BM723277 
    BX338079 BX403504 BC011362 CD618064 BU733119 BM707753 BX420411 CA390965 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for GGT5    About this scheme

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


    ECgene alternative splicing isoforms for GGT5

    (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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    GGT5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    GGT5 Expression
    About this image


    GGT5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Lung (Respiratory System)
             Basal Cells Trachea
     
     Adrenal Gland (Endocrine System)
    GGT5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GGT5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.437156
        Custom PCR Arrays for GGT5
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    In Situ
    Assay Products:
     

     
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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 GGT5 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ggt51 , 5 gamma-glutamyltransferase 51, 5 81.05(n)1
    80.35(a)1
      10 (38.55 cM)5
    238871  NM_011820.41  NP_035950.21 
     755893815 
    chicken
    (Gallus gallus)
    Aves GGT51 gamma-glutamyltransferase 5 56.04(n)
    50.09(a)
      416943  XM_004934341.1  XP_004934398.1 
    lizard
    (Anolis carolinensis)
    Reptilia GGT56
    gamma-glutamyltransferase 5
    46(a)
    1 ↔ 1
    GL343947.1(93986-102414)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004975181 gamma-glutamyltransferase 5-like 55.99(n)
    51.37(a)
      100497518  XM_002931913.2  XP_002931959.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003337571 gamma-glutamyltransferase 5-like 55.62(n)
    49.51(a)
      100333757  XM_002667837.3  XP_002667883.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ggt-16
    gamma-glutamyl transpeptidase
    33(a)
    many ↔ many
    X(18399914-18406392)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ECM386
    Gamma-glutamyltranspeptidase, major glutathione-de...
    22(a)
    1 → many
    XII(726069-728051) YLR299W


    ENSEMBL Gene Tree for GGT5 (if available)
    TreeFam Gene Tree for GGT5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GGT5 gene
    GGT62  GGTLC12  GGT12  GGT72  GGTLC22  GGTLC32  GGT22  
    5 SIMAP similar genes for GGT5 using alignment to 4 protein entries:     GGT5_HUMAN (see all proteins):
    GGT    GGT2    GGT3P    GGT1    GGTLC3

    GGT5 for paralogs           About GeneDecksing



    (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)
    About This Section

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    Selected SNPs for GGT5 (see all 844)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1813231411,2
    C--24615286(+) ACCCCA/GTCTCA 3 -- ds50010--------
    rs1431968791,2
    --24615435(+) GAGTGA/GTGAGG 3 -- ds50010--------
    rs130535991,2
    F,A--24615448(+) TTGGGA/GGGCAG 3 -- ds50012Minor allele frequency- G:0.03WA NA 238
    rs7388101,2
    C,F,O,A,H--24615506(+) GGTCCA/GCGAGC 3 -- ds500126Minor allele frequency- G:0.29NA EA NS WA CSA 2685
    rs130572761,2
    C,F--24615508(+) TCCACG/AAGCAT 3 -- ds50012Minor allele frequency- A:0.03WA NA 238
    rs1482642341,2
    --24615576(+) CACCCC/TTCTGT 3 -- ds50010--------
    rs1851550831,2
    --24615605(+) CTCCCC/GACTTA 3 -- ds50010--------
    rs347878691,2
    C--24615638(+) CCGCCTCT/-TCTTT 3 -- cds11Minor allele frequency- -:0.50NA 2
    rs711892311,2
    C--24615639(+) CTCTT-/CT    
       T
    /TCT
    TAATC
    6 -- cds11NA 2
    rs733942981,2
    C--24615676(+) GAGAGG/AGTGGG 3 -- ut312Minor allele frequency- A:0.13WA 120

    HapMap Linkage Disequilibrium report for GGT5 (24615622 - 24641110 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GGT5 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2724041CNV Deletion23290073
    esv2493035CNV Deletion19546169
    nsv528009CNV Loss19592680
    nsv483072CNV Loss15286789
    nsv914630CNV Loss21882294
    nsv914631CNV Loss21882294
    nsv528842CNV Loss19592680
    esv24290CNV Gain19812545
    nsv526567CNV Gain19592680
    nsv834157CNV Gain17160897

    Human Gene Mutation Database (HGMD): GGT5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GGT5
    DNA2.0 Custom Variant and Variant Library Synthesis for GGT5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 137168    OMIM disorders: --

    4 diseases for GGT5:    
    About MalaCards
    glutathionuria    amyotrophic lateral sclerosis    lateral sclerosis    tuberculosis


    GGT5 for disorders           About GeneDecksing


    Export disorders for GGT5 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 GGT5 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with GGT5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a human gamma-glutamyl cleaving enzyme related to, but distinct from, gamma-glutamyl transpeptidase. (PubMed id 1676842)1, 2, 3 Heisterkamp N....Groffen J. (Proc. Natl. Acad. Sci. U.S.A. 1991)
    2. Localization of a gamma-glutamyl-transferase-related gene family on chromosome 22. (PubMed id 8095916)1, 3, 9 Morris C....Groffen J. (Hum. Genet. 1993)
    3. The human gamma-glutamyltransferase gene family. (PubMed id 18357469)1, 3 Heisterkamp N.... Sneddon T.P. (Hum. Genet. 2008)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    6. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)
    7. Expression and regulation of gamma-glutamyl transpeptidase-related enzyme in tracheal cells. (PubMed id 9374738)1, 9 Potdar P.D....Ostrowski L.E. (Am. J. Physiol. 1997)
    8. Evidence for the pro-oxidant effect of gamma-glutamyltranspeptidase-related enzyme. (PubMed id 11063908)1, 9 Enoiu M....Wellman M. (amp 2000)
    9. Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis. (PubMed id 23624525)1 Deng M....Zhang X. (Nat. Genet. 2013)
    10. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (J. Proteome Res. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 2687 HGNC: 4260 AceView: GGTLA1 Ensembl:ENSG00000099998 euGenes: HUgn2687
    ECgene: GGT5 Kegg: 2687 H-InvDB: GGT5

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for GGT5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GGT5 gene:
    Search GeneIP for patents involving GGT5

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



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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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