GGT6 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [P... See more...

Aliases for GGT6 Gene

Aliases for GGT6 Gene

  • Gamma-Glutamyltransferase 6 2 3 4 5
  • Gamma-Glutamyltranspeptidase 6 3 4
  • Glutathione Hydrolase 6 3 4
  • Gamma-Glutamyltransferase 6 Homolog (Rat) 2
  • Gamma-Glutamyltransferase 6 Homolog 3
  • EC 3.4.19.13 4
  • EC 2.3.2.2 4
  • FLJ90165 2
  • GGT 6 4
  • GGT6 5

External Ids for GGT6 Gene

Previous GeneCards Identifiers for GGT6 Gene

  • GC17M004407
  • GC17M004460
  • GC17M004349

Summaries for GGT6 Gene

Entrez Gene Summary for GGT6 Gene

  • GGT6 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008]

GeneCards Summary for GGT6 Gene

GGT6 (Gamma-Glutamyltransferase 6) is a Protein Coding gene. Diseases associated with GGT6 include Glutathionuria and Bladder Sarcoma. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism. Gene Ontology (GO) annotations related to this gene include obsolete gamma-glutamyltransferase activity and glutathione hydrolase activity. An important paralog of this gene is GGT7.

UniProtKB/Swiss-Prot Summary for GGT6 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GGT6 Gene

Genomics for GGT6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GGT6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J004559 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 630.8 +0.6 592 1.9 GATAD2A CTCF RFX1 ZIC2 SCRT2 RFX3 ESR1 RAD51 BCL11A USF1 GGT6 RNU6-955P MYBBP1A piR-60051-037
GH17J004561 Enhancer 0.5 ENCODE 615.6 -1.3 -1250 1.8 PRDM1 SCRT2 RUNX3 SAP130 KLF1 GGT6 ENSG00000262921 SMTNL2
GH17J004583 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 19.7 -24.9 -24909 7.8 CTCF PRDM10 ZNF692 ZIC2 RBFOX2 PKNOX1 PATZ1 ZNF501 ZNF600 ZNF341 SMTNL2 GGT6 RNU6-955P ALOX15 SHPK DERL2 VMO1 LINC01996
GH17J004553 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 16.3 +5.8 5825 2.6 HNRNPL CTCF PRDM10 REST TFE3 NFKBIZ ZNF692 POLR2A BACH1 LARP7 MYBBP1A lnc-SPNS2-4 lnc-GGT6-1 RPAIN ANKFY1 ENSG00000261879 DHX33 ZNF232 ENSG00000262227 GGT6
GH17J004536 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.3 +24.2 24159 2.1 PRDM10 POLR2A PRDM1 ZIC2 RBFOX2 PATZ1 YY1 RBM22 NR2F2 ZFHX2 SPNS2 lnc-MYBBP1A-3 GGT6 ENSG00000229782 MYBBP1A C17orf107 KIF1C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GGT6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GGT6

Top Transcription factor binding sites by QIAGEN in the GGT6 gene promoter:
  • AhR
  • AP-1
  • GR
  • GR-alpha
  • GR-beta
  • ISGF-3
  • MAZR
  • RFX1
  • RSRFC4
  • STAT5B

Genomic Locations for GGT6 Gene

Genomic Locations for GGT6 Gene
chr17:4,556,927-4,560,920
(GRCh38/hg38)
Size:
3,994 bases
Orientation:
Minus strand
chr17:4,460,222-4,464,113
(GRCh37/hg19)
Size:
3,892 bases
Orientation:
Minus strand

Genomic View for GGT6 Gene

Genes around GGT6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GGT6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GGT6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GGT6 Gene

Proteins for GGT6 Gene

  • Protein details for GGT6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P531-GGT6_HUMAN
    Recommended name:
    Glutathione hydrolase 6
    Protein Accession:
    Q6P531
    Secondary Accessions:
    • B4DUH4
    • Q8NCM0

    Protein attributes for GGT6 Gene

    Size:
    493 amino acids
    Molecular mass:
    50509 Da
    Quaternary structure:
    • Heterodimer composed of the light and heavy chains. The active site is located in the light chain (By similarity).

    Alternative splice isoforms for GGT6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GGT6 Gene

Post-translational modifications for GGT6 Gene

  • Glycosylation at Asn161 and Asn370
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GGT6 Gene

Domains & Families for GGT6 Gene

Gene Families for GGT6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for GGT6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GGT6 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51026 (B4DPG6_HUMAN)
  • Gamma-glutamyltranspeptidase 6 (GGT6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6P531

UniProtKB/Swiss-Prot:

GGT6_HUMAN :
  • Belongs to the gamma-glutamyltransferase family.
Family:
  • Belongs to the gamma-glutamyltransferase family.
genes like me logo Genes that share domains with GGT6: view

Function for GGT6 Gene

Molecular function for GGT6 Gene

UniProtKB/Swiss-Prot Function:
Cleaves glutathione conjugates.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an alpha-amino acid + an N-terminal (5-L-glutamyl)-[peptide] = 5-L-glutamyl amino acid + N-terminal L-alpha-aminoacyl-[peptide]; Xref=Rhea:RHEA:23904, Rhea:RHEA-COMP:9780, Rhea:RHEA-COMP:9795, ChEBI:CHEBI:77644, ChEBI:CHEBI:78597, ChEBI:CHEBI:78599, ChEBI:CHEBI:78608; EC=2.3.2.2;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=glutathione + H2O = L-cysteinylglycine + L-glutamate; Xref=Rhea:RHEA:28807, ChEBI:CHEBI:15377, ChEBI:CHEBI:29985, ChEBI:CHEBI:57925, ChEBI:CHEBI:61694; EC=3.4.19.13;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an S-substituted glutathione + H2O = an S-substituted L-cysteinylglycine + L-glutamate; Xref=Rhea:RHEA:59468, ChEBI:CHEBI:15377, ChEBI:CHEBI:29985, ChEBI:CHEBI:90779, ChEBI:CHEBI:143103; EC=3.4.19.13;.
GENATLAS Biochemistry:
gamma-glutamyltransferase 6,ubiquitously expressed including fetal liver and brain,gamma-glutamyl cycle

Enzyme Numbers (IUBMB) for GGT6 Gene

Phenotypes From GWAS Catalog for GGT6 Gene

Gene Ontology (GO) - Molecular Function for GGT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0016787 hydrolase activity IEA --
GO:0036374 glutathione hydrolase activity IEA --
genes like me logo Genes that share ontologies with GGT6: view
genes like me logo Genes that share phenotypes with GGT6: view

Animal Model Products

CRISPR Products

miRNA for GGT6 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GGT6

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GGT6 Gene

Localization for GGT6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GGT6 Gene

Membrane. Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GGT6 gene
Compartment Confidence
extracellular 4
plasma membrane 2
mitochondrion 2
nucleus 2
cytosol 2
endoplasmic reticulum 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for GGT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with GGT6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GGT6 Gene

Pathways & Interactions for GGT6 Gene

genes like me logo Genes that share pathways with GGT6: view

UniProtKB/Swiss-Prot Q6P531-GGT6_HUMAN

  • Pathway: Sulfur metabolism; glutathione metabolism.

Gene Ontology (GO) - Biological Process for GGT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006749 glutathione metabolic process IEA --
GO:0006750 glutathione biosynthetic process IEA --
GO:0008150 biological_process ND --
GO:1901750 leukotriene D4 biosynthetic process ISS --
genes like me logo Genes that share ontologies with GGT6: view

No data available for SIGNOR curated interactions for GGT6 Gene

Drugs & Compounds for GGT6 Gene

(9) Drugs for GGT6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 82
Water Approved Pharma 0
Glutamic acid Approved Nutra Agonist, Full agonist 304
Glutathione Approved, Investigational Nutra 0

(8) Additional Compounds for GGT6 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-L-Glutamyl-taurine
  • 5-Glutamyl-taurine
  • Glutaurine
  • alpha-Glutamyl taurine
  • gamma-L-Glutamyltaurine
  • gamma-L-Glutamyl-taurine
beta-Aminopropionitrile
  • 2-Cyanoethylamine
  • 3-Aminopropionitrile
  • 3-Aminopropiononitrile
  • Aminopropionitrile
  • BAPN
151-18-8
cysteinylglycine
  • CG
  • Cys-gly
  • N-L-Cysteinylglycine
  • L-Cysteinylglycine
  • N-Cysteinyl glycine
19246-18-5
gamma-Glutamyl-beta-aminopropiononitrile
  • gamma-Glutamyl-3-aminopropiononitrile
  • g-Glutamyl-3-aminopropiononitrile
  • γ-glutamyl-3-aminopropiononitrile
  • g-Glutamyl-b-aminopropiononitrile
  • γ-glutamyl-β-aminopropiononitrile
gamma-Glutamyl-beta-cyanoalanine
genes like me logo Genes that share compounds with GGT6: view

Transcripts for GGT6 Gene

mRNA/cDNA for GGT6 Gene

5 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GGT6

Alternative Splicing Database (ASD) splice patterns (SP) for GGT6 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5
SP1:
SP2: -
SP3: - - -
SP4: - - - - -
SP5:

Relevant External Links for GGT6 Gene

GeneLoc Exon Structure for
GGT6

Expression for GGT6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GGT6 Gene

mRNA differential expression in normal tissues according to GTEx for GGT6 Gene

This gene is overexpressed in Colon - Transverse (x8.9), Skin - Sun Exposed (Lower leg) (x6.6), Esophagus - Mucosa (x6.5), Skin - Not Sun Exposed (Suprapubic) (x6.2), and Pancreas (x4.3).

Protein differential expression in normal tissues from HIPED for GGT6 Gene

This gene is overexpressed in Urine (45.7) and Prostate (21.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GGT6 Gene



Protein tissue co-expression partners for GGT6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GGT6

SOURCE GeneReport for Unigene cluster for GGT6 Gene:

Hs.130749

Evidence on tissue expression from TISSUES for GGT6 Gene

  • Kidney(4.6)
  • Intestine(4.5)
  • Liver(2.8)
  • Skin(2.1)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with GGT6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GGT6 Gene

Orthologs for GGT6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GGT6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GGT6 30 31
  • 99.27 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GGT6 30 31
  • 81.5 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GGT6 30 31
  • 79.01 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ggt6 30
  • 76.24 (n)
Mouse
(Mus musculus)
Mammalia Ggt6 30 17 31
  • 76.16 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GGT6 31
  • 48 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GGT6 31
  • 46 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 11 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100496507 30
  • 43.11 (n)
Zebrafish
(Danio rerio)
Actinopterygii GGT6 31
  • 22 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG17636 31
  • 14 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ECM38 31
  • 12 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 14 (a)
ManyToMany
Species where no ortholog for GGT6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GGT6 Gene

ENSEMBL:
Gene Tree for GGT6 (if available)
TreeFam:
Gene Tree for GGT6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GGT6: view image

Paralogs for GGT6 Gene

Paralogs for GGT6 Gene

genes like me logo Genes that share paralogs with GGT6: view

Variants for GGT6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GGT6 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
713608 Benign: not provided 4,558,296(-) G/A MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
738667 Benign: not provided 4,558,957(-) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
rs11657054 - p.Ala58Val
rs7216284 - p.Arg40Trp

Additional dbSNP identifiers (rs#s) for GGT6 Gene

Structural Variations from Database of Genomic Variants (DGV) for GGT6 Gene

Variant ID Type Subtype PubMed ID
esv3639785 CNV gain 21293372
nsv1061858 CNV gain 25217958
nsv574272 CNV loss 21841781

Variation tolerance for GGT6 Gene

Residual Variation Intolerance Score: 79.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.04; 75.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GGT6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GGT6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GGT6 Gene

Disorders for GGT6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GGT6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
glutathionuria
  • gamma-glutamyltranspeptidase deficiency
bladder sarcoma
  • sarcoma of bladder
blood group incompatibility
- elite association - COSMIC cancer census association via MalaCards
Search GGT6 in MalaCards View complete list of genes associated with diseases

Genatlas disease for GGT6 Gene

glutathionuria
genes like me logo Genes that share disorders with GGT6: view

No data available for UniProtKB/Swiss-Prot for GGT6 Gene

Publications for GGT6 Gene

  1. The human gamma-glutamyltransferase gene family. (PMID: 18357469) Heisterkamp N … Sneddon TP (Human genetics 2008) 2 3 4 23
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. Inflammation-dependent overexpression of c-Myc enhances CRL4DCAF4 E3 ligase activity and promotes ubiquitination of ST7 in colitis-associated cancer. (PMID: 30945288) Liu H … Yang C (The Journal of pathology 2019) 3
  4. The intracellular NADH level regulates atrophic nonunion pathogenesis through the CtBP2-p300-Runx2 transcriptional complex. (PMID: 30585266) Zhang W … Wang K (International journal of biological sciences 2018) 3
  5. A Multinational Arab Genome-Wide Association Study Identifies New Genetic Associations for Rheumatoid Arthritis. (PMID: 28118524) Saxena R … Arayssi T (Arthritis & rheumatology (Hoboken, N.J.) 2017) 3

Products for GGT6 Gene

Sources for GGT6 Gene