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Aliases for GGT1 Gene

Aliases for GGT1 Gene

  • Gamma-Glutamyltransferase 1 2 3 4 5
  • Leukotriene-C4 Hydrolase 3 4
  • Glutathione Hydrolase 1 3 4
  • EC 2.3.2.2 4 63
  • GGT 1 3 4
  • GGT 3 4
  • Testicular Tissue Protein Li 73 3
  • CD224 Antigen 4
  • EC 3.4.19.13 4
  • EC 3.4.19.14 4
  • D22S672 3
  • D22S732 3
  • CD224 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 Alcohol Abuse. Among its related pathways are Aflatoxin activation and detoxification and Taurine and hypotaurine metabolism. GO annotations related to this gene include gamma-glutamyltransferase activity and glutathione hydrolase activity. An important paralog of this gene is GGTLC2.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GGT1 Gene

Genomics for GGT1 Gene

Regulatory Elements for GGT1 Gene

Enhancers for GGT1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GGT1 on UCSC Golden Path with GeneCards custom track

Promoters for GGT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GGT1 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for GGT1 Gene

Chromosome:
22
Start:
24,583,750 bp from pter
End:
24,629,005 bp from pter
Size:
45,256 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:
    Gamma-glutamyltranspeptidase 1
    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:
    • Chloride ions bound in the active site cavity may contribute to stabilize the protein fold.
    • Cys-454 was thought to bind the gamma-glutamyl moiety, but mutagenesis of this residue had no effect on activity.
    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

Proteomics data for GGT1 Gene at MOPED

Post-translational modifications for GGT1 Gene

  • Cleaved by autocatalysis into a large and a small subunit and the autocatalytic cleavage is essential to the functional activation of the enzyme.
  • 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.
  • Ubiquitination at Lys 181
  • Glycosylation at Asn 95, Asn 120, Asn 230, Asn 266, Asn 297, Asn 344, and Asn 511
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for GGT1 Gene

Gene Families for GGT1 Gene

Protein Domains for GGT1 Gene

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

GENATLAS Biochemistry:
gamma-glutamyltransferase 1,expressed in placenta,sigmoid tissues,gamma-glutamyl cycle
UniProtKB/Swiss-Prot CatalyticActivity:
A (5-L-glutamyl)-peptide + an amino acid = a peptide + a 5-L-glutamyl amino acid.
UniProtKB/Swiss-Prot CatalyticActivity:
Glutathione + H(2)O = L-cysteinylglycine + L-glutamate.
UniProtKB/Swiss-Prot CatalyticActivity:
Leukotriene C(4) + H(2)O = leukotriene D(4) + L-glutamate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by autocatalytic cleavage.
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.

Enzyme Numbers (IUBMB) for GGT1 Gene

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

  • Taconic Biosciences Mouse Models for GGT1

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for GGT1 Gene COMPARTMENTS Subcellular localization image for GGT1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 2
endoplasmic reticulum 2
lysosome 2
mitochondrion 2
nucleus 2
peroxisome 2
vacuole 2
cytoskeleton 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
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.

Gene Ontology (GO) - Biological Process for GGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002682 regulation of immune system process ISS --
GO:0006520 cellular amino acid metabolic process TAS 2904146
GO:0006536 glutamate metabolic process IDA 24047895
GO:0006749 glutathione metabolic process IEA,TAS 18357469
GO:0006751 glutathione catabolic process IDA 17924658
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutathione Approved Nutra Target 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 57
Taurine Experimental Nutra Non-selective, endogenous glycine receptor partial agonist 26
L-Glutamic Acid Nutra Full agonist, Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
cysteinylglycine
  • Cys-Gly
  • L-Cysteinylglycine
  • N-Cysteinyl Glycine
  • N-Cysteinyl-Glycine
  • N-L-Cysteinyl-Glycine
19246-18-5
5-L-Glutamyl-taurine
  • 5-Glutamyl-taurine
beta-Aminopropionitrile
  • 2-Cyanoethylamine
  • 3-Aminopropanenitrile
  • 3-Aminopropionitrile
  • 3-Aminopropiononitrile
  • Aminopropionitrile
151-18-8
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
gamma-Glutamyl-beta-aminopropiononitrile
genes like me logo Genes that share compounds with GGT1: view

Transcripts for GGT1 Gene

Unigene Clusters for GGT1 Gene

Gamma-glutamyltransferase 1:
Representative Sequences:

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 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, PaxDb, MOPED, and MaxQB for GGT1 Gene



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.
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
cow
(Bos Taurus)
Mammalia GGT1 35
  • 84.15 (n)
  • 83.45 (a)
-- 36
  • 83 (a)
OneToMany
dog
(Canis familiaris)
Mammalia GGT1 35
  • 85.56 (n)
  • 83.98 (a)
-- 36
  • 84 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ggt1 35
  • 80.83 (n)
  • 79.49 (a)
Ggt1 16
Ggt1 36
  • 79 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia GGT1 35
  • 98.83 (n)
  • 98.95 (a)
rat
(Rattus norvegicus)
Mammalia Ggt1 35
  • 80.59 (n)
  • 80.04 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 72 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 66 (a)
ManyToMany
-- 36
  • 74 (a)
ManyToMany
chicken
(Gallus gallus)
Aves GGT1 35
  • 66.6 (n)
  • 68.65 (a)
-- 36
  • 67 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ggt1 35
  • 62.61 (n)
  • 64.04 (a)
zebrafish
(Danio rerio)
Actinopterygii ggt1a 35
  • 61.05 (n)
  • 61.81 (a)
zgc64172 35
ggt1a 36
  • 59 (a)
ManyToMany
ggt1b 36
  • 56 (a)
ManyToMany
ggt1l2.1 36
  • 41 (a)
ManyToMany
ggt1l2.2 36
  • 50 (a)
ManyToMany
si:ch73-236c18.3 36
  • 45 (a)
ManyToMany
si:dkey-222h21.12 36
  • 48 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG1492 37
  • 37 (a)
CG4829 37
  • 41 (a)
CG6461 37
  • 45 (a)
EG:23E12.1 37
  • 42 (a)
CG4829 35
  • 51.45 (n)
  • 41.89 (a)
CG1492 36
  • 34 (a)
ManyToMany
CG4829 36
  • 26 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000853 35
  • 53.48 (n)
  • 45.01 (a)
worm
(Caenorhabditis elegans)
Secernentea C53D5.5 37
  • 41 (a)
T03D8.6 37
  • 34 (a)
Y7A9A.1 37
  • 36 (a)
C53D5.5 35
  • 48.7 (n)
  • 43.26 (a)
C53D5.5 36
  • 36 (a)
ManyToMany
H14N18.4 36
  • 34 (a)
ManyToMany
T03D8.6 36
  • 29 (a)
ManyToMany
Y7A9A.1 36
  • 34 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR144W 35
  • 50.29 (n)
  • 37.33 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C05236g 35
  • 42.92 (n)
  • 36.29 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ECM38 35
  • 43.48 (n)
  • 35.26 (a)
ECM38 36
  • 27 (a)
OneToMany
ECM38 38
thale cress
(Arabidopsis thaliana)
eudicotyledons GGT2 35
  • 46.39 (n)
  • 43.13 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01753 35
  • 49.45 (n)
  • 40.39 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ggt1 35
  • 45.93 (n)
  • 41.03 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
ManyToMany
CSA.7538 36
  • 50 (a)
ManyToMany
Species with no ortholog for GGT1:
  • 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)
  • 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 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)

Paralogs for GGT1 Gene

Paralogs for GGT1 Gene

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 Sequence Context AA Info Type
rs4049829 - 24,623,188(+) AGACG(C/T)GGTGC reference, missense
rs2330838 - 24,611,235(+) GCTCG(A/C/G)AGATT reference, missense
rs3895576 - 24,620,475(+) GGCAG(C/T)CCTGG reference, missense
rs2330837 - 24,611,233(+) GTGCT(C/T)GAAGA reference, missense
rs17004876 - 24,627,898(+) TCAAT(A/G)ATGAA reference, missense

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

Variant ID Type Subtype PubMed ID
nsv7350 OTHER Inversion 18451855
esv2724041 CNV Deletion 23290073
nsv526567 CNV Gain 19592680
nsv914599 CNV Gain 21882294
esv2724068 CNV Deletion 23290073
nsv9884 CNV Gain+Loss 18304495
nsv914635 CNV Loss 21882294
nsv914636 CNV Loss 21882294
esv1162534 CNV Deletion 17803354
nsv482076 CNV Gain 20164927
esv25356 CNV Gain 19812545
esv2724069 CNV Deletion 23290073
esv2530395 CNV Loss 19546169

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for GGT1 Gene

Disorders for GGT1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
glutathionuria
  • gamma-glutamyltransferase deficiency
alcohol abuse
  • alcoholism
extrahepatic cholestasis
  • extrahepatic biliary stasis
obstructive jaundice
  • cholestatic jaundice
hepatitis
  • hepatitis a
- 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]: Autosomal recessive disease. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GGT1

Genetic Association Database (GAD)
GGT1
Human Genome Epidemiology (HuGE) Navigator
GGT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GGT1
genes like me logo Genes that share disorders with GGT1: view

No data available for Genatlas for GGT1 Gene

Publications for GGT1 Gene

  1. Involvement of Ser-451 and Ser-452 in the catalysis of human gamma- glutamyl transpeptidase. (PMID: 7673200) Ikeda Y. … Meister A. (J. Biol. Chem. 1995) 3 4 23 67
  2. Association between serum gamma-glutamyltransferase and chronic kidney disease among US adults. (PMID: 20090360) Teppala S. … Ducatman A. (Kidney Blood Press. Res. 2010) 3 23
  3. Association of gamma-glutamyltransferase with incidence of type 2 diabetes in Japan. (PMID: 20404051) Fujita M. … Hata A. (Exp. Biol. Med. (Maywood) 2010) 3 23
  4. The human gamma-glutamyltransferase gene family. (PMID: 18357469) Heisterkamp N. … Sneddon T.P. (Hum. Genet. 2008) 2 3
  5. Hepatic fat content-independent association of the serum level of gamma-glutamyltransferase with visceral adiposity, but not subcutaneous adiposity. (PMID: 17698237) Iwasaki T. … Terauchi Y. (Diabetes Res. Clin. Pract. 2008) 3 23

Products for GGT1 Gene

Sources for GGT1 Gene

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