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 contribut... See more...

Aliases for GGT1 Gene

Aliases for GGT1 Gene

  • Gamma-Glutamyltransferase 1 2 3 4 5
  • Glutathione Hydrolase 1 Proenzyme 3 4
  • Gamma-Glutamyltranspeptidase 1 3 4
  • Leukotriene-C4 Hydrolase 3 4
  • EC 2.3.2.2 4 54
  • GGT 1 3 4
  • GGT 3 4
  • Testicular Tissue Protein Li 73 3
  • Glutathione Hydrolase 1 3
  • CD224 Antigen 4
  • EC 3.4.19.13 4
  • EC 3.4.19.14 4
  • D22S672 3
  • D22S732 3
  • CD224 3
  • GGTD 3
  • GTG 3

External Ids for GGT1 Gene

Previous HGNC Symbols for GGT1 Gene

  • GGT

Previous GeneCards Identifiers for GGT1 Gene

  • GC22P021675
  • GC22M021675
  • GC22P023304
  • GC22P024980
  • GC22P007929

Summaries for GGT1 Gene

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 Glutathionuria and Obstructive Jaundice. Among its related pathways are Selenium Micronutrient Network and Glutathione 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 GGT2.

UniProtKB/Swiss-Prot Summary for GGT1 Gene

  • 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

Additional gene information for GGT1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GGT1 Gene

Genomics for GGT1 Gene

GeneHancer (GH) Regulatory Elements for GGT1 Gene

Promoters and enhancers for GGT1 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
GH22J024548 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 -2.5 -2545 8.9 FOXK2 SP1 ZBTB40 SIX5 ZBTB6 LCORL FOXA1 MLX RBPJ POLR2A SNRPD3 GUCD1 GGT1 SMARCB1 SPECC1L MIF-AS1 ENSG00000272973 ENSG00000272977 SLC2A11 ZNF70
GH22J024600 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 780.6 +46.9 46909 4.1 TCF7L2 NR2F1 MIXL1 ZNF133 L3MBTL2 NFIB ZNF652 ZNF148 ELF3 SP1 GGT1 lnc-SNRPD3-1 ENSG00000272977 SMARCB1 LRRC75B ENSG00000273295 CHCHD10 ENSG00000230947 NONHSAG045678.2-003
GH22J024606 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 769.6 +51.6 51594 2 USF2 MYC L3MBTL2 MAX ZNF121 POLR2A MAFK CBFA2T2 MLLT1 ZNF687 GGT1 KR153194-118 lnc-SNRPD3-1 NONHSAG045678.2-003
GH22J024627 Promoter 0.3 EPDnew 750.2 +71.2 71204 0.1 GGT1 ENSG00000230947 LRRC75B BCRP3 lnc-GGT1-16 KR153194-118
GH22J024591 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 27.7 +37.4 37385 2.9 FOXA1 ZBTB6 MLX RBPJ POLR2A NR2F1 NR2F6 MIXL1 NFYC HLF LRRC75B lnc-LRRC75B-1 GGT1 SPECC1L SMARCB1 ENSG00000230947 NONHSAG045678.2-003
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GGT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GGT1 gene promoter:
  • YY1

Genomic Locations for GGT1 Gene

Genomic Locations for GGT1 Gene
chr22:24,556,007-24,629,005
(GRCh38/hg38)
Size:
72,999 bases
Orientation:
Plus strand
chr22:24,979,718-25,024,972
(GRCh37/hg19)
Size:
45,255 bases
Orientation:
Plus strand

Genomic View for GGT1 Gene

Genes around GGT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GGT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GGT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GGT1 Gene

Proteins for GGT1 Gene

  • Protein details for GGT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19440-GGT1_HUMAN
    Recommended name:
    Glutathione hydrolase 1 proenzyme
    Protein Accession:
    P19440
    Secondary Accessions:
    • Q08247
    • Q14404
    • Q8TBS1
    • Q9UMK1

    Protein attributes for GGT1 Gene

    Size:
    569 amino acids
    Molecular mass:
    61410 Da
    Quaternary structure:
    • 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.
    • Chloride ions bound in the active site cavity may contribute to stabilize the protein fold.
    SequenceCaution:
    • Sequence=AAA35899.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GGT1 Gene

    Alternative splice isoforms for GGT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GGT1 Gene

Selected DME Specific Peptides for GGT1 Gene

P19440:
  • LCEVFCR
  • VVQAIVRT
  • PGKQPLSSMCP
  • ATSTINLYFGSKV
  • VTEVVRNM
  • LILNILKGYNFS
  • DDGGTAHLS
  • GFPVGKGLA
  • PSPANFI
  • VDAAIAAL
  • PEFYTPDD
  • LTYHRIVEAFRFAYAKRT
  • GGLSVAVPGEI
  • GLCLWLPS
  • TIYNSTT

Post-translational modifications for GGT1 Gene

  • 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 activity.
  • Cleaved by autocatalysis into a large and a small subunit and the autocatalytic cleavage is essential to the functional activation of the enzyme.
  • Glycosylation at Asn95, Asn120, Asn511, Asn230, Asn266, Asn297, and Asn344
  • Ubiquitination at Lys181
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for GGT1 Gene

Antibody Products

  • Abcam antibodies for GGT1

Domains & Families for GGT1 Gene

Gene Families for GGT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • CD markers
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for GGT1 Gene

Suggested Antigen Peptide Sequences for GGT1 Gene

GenScript: Design optimal peptide antigens:
  • GGT1 protein (A2VCM7_HUMAN)
  • Gamma-glutamyltransferase 1 (GGT1_HUMAN)
  • Gamma-glutamyltransferase (O75693_HUMAN)
  • GGT1 protein (Q6ISU8_HUMAN)
  • GGT1 protein (Q6NZY2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P19440

UniProtKB/Swiss-Prot:

GGT1_HUMAN :
  • Belongs to the gamma-glutamyltransferase family.
Family:
  • Belongs to the gamma-glutamyltransferase family.
genes like me logo Genes that share domains with GGT1: view

Function for GGT1 Gene

Molecular function for GGT1 Gene

UniProtKB/Swiss-Prot 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.
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; Evidence={ECO:0000269 PubMed:17924658, ECO:0000269 PubMed:7673200, ECO:0000269 PubMed:7759490, ECO:0000269 PubMed:8095045, ECO:0000269 PubMed:8827453};.
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; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an S-substituted glutathione + H2O = an S-substitued 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; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + leukotriene C4 = L-glutamate + leukotriene D4; Xref=Rhea:RHEA:31563, ChEBI:CHEBI:15377, ChEBI:CHEBI:29985, ChEBI:CHEBI:57973, ChEBI:CHEBI:63166; EC=3.4.19.14; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by autocatalytic cleavage.
GENATLAS Biochemistry:
gamma-glutamyltransferase 1,expressed in placenta,sigmoid tissues,gamma-glutamyl cycle

Enzyme Numbers (IUBMB) for GGT1 Gene

Phenotypes From GWAS Catalog for GGT1 Gene

Gene Ontology (GO) - Molecular Function for GGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000048 peptidyltransferase activity IDA 21447318
GO:0002951 leukotriene-C(4) hydrolase IDA,IMP 14754911
GO:0003723 RNA binding IPI --
GO:0005515 protein binding IPI 15528406
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with GGT1: view
genes like me logo Genes that share phenotypes with GGT1: view

Human Phenotype Ontology for GGT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GGT1 Gene

MGI Knock Outs for GGT1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GGT1

Clone Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for GGT1 Gene

Localization for GGT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GGT1 Gene

Cell 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 GGT1 gene
Compartment Confidence
plasma membrane 5
extracellular 3
mitochondrion 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000243 commitment complex IBA --
GO:0005615 extracellular space HDA 16502470
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
genes like me logo Genes that share ontologies with GGT1: view

Pathways & Interactions for GGT1 Gene

genes like me logo Genes that share pathways with GGT1: view

UniProtKB/Swiss-Prot P19440-GGT1_HUMAN

  • Pathway: Sulfur metabolism; glutathione metabolism.

Interacting Proteins for GGT1 Gene

Gene Ontology (GO) - Biological Process for GGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000387 spliceosomal snRNP assembly IEA --
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0002682 regulation of immune system process ISS --
GO:0006369 termination of RNA polymerase II transcription TAS --
GO:0006396 RNA processing IEA --
genes like me logo Genes that share ontologies with GGT1: view

No data available for SIGNOR curated interactions for GGT1 Gene

Drugs & Compounds for GGT1 Gene

(104) Drugs for GGT1 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

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 70
Water Approved Pharma 0
Glutamic acid Approved Nutra Full agonist, Agonist 281
Taurine Approved Nutra Non-selective, endogenous glycine receptor partial agonist 39

(49) Additional Compounds for GGT1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
cysteinylglycine
  • CG
  • Cys-gly
  • N-L-Cysteinylglycine
  • L-Cysteinylglycine
  • N-Cysteinyl glycine
19246-18-5
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
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

(1) ApexBio Compounds for GGT1 Gene

Compound Action Cas Number
GGsTop γ-glutamyl transpeptidase (GGT) inhibitor, novel and irreversible 926281-37-0
genes like me logo Genes that share compounds with GGT1: view

Transcripts for GGT1 Gene

mRNA/cDNA for GGT1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GGT1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GGT1 Gene

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

Relevant External Links for GGT1 Gene

GeneLoc Exon Structure for
GGT1
ECgene alternative splicing isoforms for
GGT1

Expression for GGT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GGT1 Gene

mRNA differential expression in normal tissues according to GTEx for GGT1 Gene

This gene is overexpressed in Kidney - Cortex (x12.5), Liver (x5.1), and Whole Blood (x4.8).

Protein differential expression in normal tissues from HIPED for GGT1 Gene

This gene is overexpressed in Urine (17.6), Kidney (17.5), Pancreatic juice (13.4), and Fetal gut (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GGT1 Gene



NURSA nuclear receptor signaling pathways regulating expression of GGT1 Gene:

GGT1

SOURCE GeneReport for Unigene cluster for GGT1 Gene:

Hs.645535

mRNA Expression by UniProt/SwissProt for GGT1 Gene:

P19440-GGT1_HUMAN
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.

Evidence on tissue expression from TISSUES for GGT1 Gene

  • Liver(4.8)
  • Kidney(4.7)
  • Lung(4.5)
  • Pancreas(4.5)
  • Blood(3)
  • Gall bladder(2.5)
  • Urine(2.3)
  • Intestine(2.1)
  • Stomach(2.1)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GGT1 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns with GGT1: view

No data available for Protein tissue co-expression partners for GGT1 Gene

Orthologs for GGT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GGT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GGT1 32
  • 98.83 (n)
dog
(Canis familiaris)
Mammalia GGT1 32
  • 85.56 (n)
cow
(Bos Taurus)
Mammalia GGT1 32
  • 84.15 (n)
mouse
(Mus musculus)
Mammalia Ggt1 17 32
  • 80.83 (n)
rat
(Rattus norvegicus)
Mammalia Ggt1 32
  • 80.59 (n)
chicken
(Gallus gallus)
Aves GGT1 32
  • 66.6 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia ggt1 32
  • 62.61 (n)
zebrafish
(Danio rerio)
Actinopterygii ggt1a 32
  • 61.05 (n)
zgc64172 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000853 32
  • 53.48 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4829 34 32
  • 51.45 (n)
CG6461 34
  • 45 (a)
EG:23E12.1 34
  • 42 (a)
CG1492 34
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea C53D5.5 34 32
  • 48.7 (n)
Y7A9A.1 34
  • 36 (a)
T03D8.6 34
  • 34 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR144W 32
  • 50.29 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ECM38 35 32
  • 43.48 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C05236g 32
  • 42.92 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons GGT2 32
  • 46.39 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01753 32
  • 49.45 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ggt1 32
  • 45.93 (n)
Species where no ortholog for GGT1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GGT1 Gene

ENSEMBL:
Gene Tree for GGT1 (if available)
TreeFam:
Gene Tree for GGT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GGT1: view image

Paralogs for GGT1 Gene

Paralogs for GGT1 Gene

(9) SIMAP similar genes for GGT1 Gene using alignment to 20 proteins:

  • GGT1_HUMAN
  • A2VCM7_HUMAN
  • B5MC34_HUMAN
  • B5MC36_HUMAN
  • C9JGF3_HUMAN
  • C9JIY6_HUMAN
  • E7EM62_HUMAN
  • E7ENJ5_HUMAN
  • E7ERN9_HUMAN
  • E7ESL5_HUMAN
  • E7ET76_HUMAN
  • E7ETJ6_HUMAN
  • E7ETN1_HUMAN
  • E7ETR7_HUMAN
  • E7ETU4_HUMAN
  • E7EVF8_HUMAN
  • E9PHP2_HUMAN
  • O75693_HUMAN
  • Q6ISU8_HUMAN
  • Q6NZY2_HUMAN
genes like me logo Genes that share paralogs with GGT1: view

Variants for GGT1 Gene

Sequence variations from dbSNP and Humsavar for GGT1 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000038222 -- 24,610,687(+) G/C intron_variant
rs1000175745 -- 24,610,956(+) C/T intron_variant
rs1000232388 -- 24,588,993(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000266797 -- 24,589,237(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000472834 -- 24,616,515(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GGT1 Gene

Variant ID Type Subtype PubMed ID
dgv4528n100 CNV gain 25217958
dgv8039n54 CNV gain 21841781
esv1162534 CNV deletion 17803354
esv2530395 CNV loss 19546169
esv25356 CNV gain 19812545
esv2724041 CNV deletion 23290073
esv2724068 CNV deletion 23290073
esv2724069 CNV deletion 23290073
esv3575443 CNV gain 25503493
esv3893463 CNV gain 25118596
nsv1055830 CNV gain 25217958
nsv1057819 CNV gain 25217958
nsv1110863 OTHER inversion 24896259
nsv1114314 CNV deletion 24896259
nsv482076 CNV gain 20164927
nsv526567 CNV gain 19592680
nsv588744 CNV gain 21841781
nsv7350 OTHER inversion 18451855
nsv962775 CNV duplication 23825009
nsv9884 CNV gain+loss 18304495

Variation tolerance for GGT1 Gene

Residual Variation Intolerance Score: 80.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.26; 40.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GGT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GGT1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GGT1 Gene

Disorders for GGT1 Gene

MalaCards: The human disease database

(50) MalaCards diseases for GGT1 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glutathionuria
  • gamma-glutamyltranspeptidase deficiency
obstructive jaundice
  • cholestatic jaundice
extrahepatic cholestasis
  • extrahepatic biliary stasis
liver disease
  • disorder of liver
hepatitis b
  • chronic hepatitis b
- elite association - COSMIC cancer census association via MalaCards
Search GGT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GGT1_HUMAN
  • Glutathionuria (GLUTH) [MIM:231950]: A very rare, autosomal recessive metabolic disorder characterized by the presence of glutathione in the urine, due to generalized gamma-glutamyl transpeptidase deficiency. Most patients manifest mild to moderate mental retardation, and behavioral disturbance. Seizures, tremor, marfanoid features and strabismus are observed in some patients. {ECO:0000269 PubMed:29483667}. Note=The disease is caused by mutations affecting the gene represented in this entry. A large homozygous deletion that removes several exons of all isoforms of GGT1 has been found in one family affected by glutathionuria. {ECO:0000269 PubMed:29483667}.

Additional Disease Information for GGT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for GGT1 Gene

Publications for GGT1 Gene

  1. Gamma-glutamyl transpeptidase gene organization and expression: a comparative analysis in rat, mouse, pig and human species. (PMID: 10392451) Chikhi N … Laperche Y (Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology 1999) 3 4 23 56
  2. Involvement of Ser-451 and Ser-452 in the catalysis of human gamma-glutamyl transpeptidase. (PMID: 7673200) Ikeda Y … Meister A (The Journal of biological chemistry 1995) 3 4 23 56
  3. Human gamma-glutamyl transpeptidase mutants involving conserved aspartate residues and the unique cysteine residue of the light subunit. (PMID: 7759490) Ikeda Y … Meister A (The Journal of biological chemistry 1995) 3 4 23 56
  4. γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1. (PMID: 29483667) Darin N … Asin-Cayuela J (European journal of human genetics : EJHG 2018) 3 4 56
  5. Human GGT2 does not autocleave into a functional enzyme: A cautionary tale for interpretation of microarray data on redox signaling. (PMID: 23682772) West MB … Hanigan MH (Antioxidants & redox signaling 2013) 3 4 56

Products for GGT1 Gene

Sources for GGT1 Gene