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Aliases for GGT1 Gene

Aliases for GGT1 Gene

  • Gamma-Glutamyltransferase 1 2 3 4
  • GGT 3 4 6
  • Leukotriene-C4 Hydrolase 3 4
  • Glutathione Hydrolase 1 3 4
  • EC 2.3.2.2 4 63
  • GGT 1 3 4
  • Gamma-Glutamyltranspeptidase 1 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 osteogenesis imperfecta, type i. Among its related pathways are Metabolism and 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

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

Genomic Location for GGT1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys181
  • Glycosylation at Asn95, Asn120, Asn230, Asn266, Asn297, Asn344, and Asn511
  • Modification sites at PhosphoSitePlus

Domains for GGT1 Gene

Gene Families for GGT1 Gene

HGNC:
  • CD :CD molecules
  • GGT :Gamma-glutamyltransferases

Protein Domains for GGT1 Gene

Graphical View of Domain Structure for InterPro Entry

P19440

UniProtKB/Swiss-Prot:

GGT1_HUMAN :
  • P19440
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

Gene Ontology (GO) - Molecular Function for GGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003840 gamma-glutamyltransferase activity TAS 18357469
GO:0005515 protein binding IPI 15528406
GO:0036374 glutathione hydrolase activity IDA 23682772
genes like me logo Genes that share ontologies with GGT1: view
genes like me logo Genes that share phenotypes with GGT1: view

Animal Models for GGT1 Gene

MGI Knock Outs for GGT1:

No data available for miRNA , Transcription Factor Targeting 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
plasma membrane 5
extracellular 3
endoplasmic reticulum 2
mitochondrion 2
nucleus 2
peroxisome 2
chloroplast 1
cytoskeleton 1
cytosol 1
golgi apparatus 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for GGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 16502470
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0031362 anchored component of external side of plasma membrane TAS 18357469
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with GGT1: view

Pathways 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:0006508 proteolysis --
GO:0006520 cellular amino acid metabolic process TAS 2904146
GO:0006536 glutamate metabolic process IDA 24047895
GO:0006691 leukotriene metabolic process TAS --
genes like me logo Genes that share ontologies with GGT1: view

Compounds for GGT1 Gene

(15) HMDB Compounds for GGT1 Gene

Compound Synonyms Cas Number PubMed IDs
5-L-Glutamyl-taurine
  • 5-Glutamyl-taurine
Not Available
Carbon dioxide
  • Carbon oxide
124-38-9
Cysteinylglycine
  • L-Cysteinylglycine
19246-18-5
Famotidine
  • Amfamox
76824-35-6
Gamma-Glutamyl-Se-methylselenocysteine
Not Available

(1) Drugbank Compounds for GGT1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Glutathione
  • 5-L-Glutamyl-L-cysteinylglycine
70-18-8 target

(136) Novoseek inferred chemical compound relationships for GGT1 Gene

Compound -log(P) Hits PubMed IDs
aspartate 87.8 114
alanine 87.4 118
acivicin 83.1 29
ursodeoxycholic acid 80 33
cysteinylglycine 78.5 21
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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Kidney - Cortex (12.5), Liver (5.1), and Whole Blood (4.8).

Integrated Proteomics: protein expression 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 expressions with GGT1: view

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 35
  • 98.83 (n)
  • 98.95 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 83 (a)
OneToMany
GGT1 35
  • 84.15 (n)
  • 83.45 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 84 (a)
OneToMany
GGT1 35
  • 85.56 (n)
  • 83.98 (a)
mouse
(Mus musculus)
Mammalia Ggt1 35
  • 80.83 (n)
  • 79.49 (a)
Ggt1 16
Ggt1 36
  • 79 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 72 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 66 (a)
ManyToMany
-- 36
  • 74 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Ggt1 35
  • 80.59 (n)
  • 80.04 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 67 (a)
OneToMany
GGT1 35
  • 66.6 (n)
  • 68.65 (a)
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)
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
zgc64172 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000853 35
  • 53.48 (n)
  • 45.01 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1492 36
  • 34 (a)
ManyToMany
CG4829 35
  • 51.45 (n)
  • 41.89 (a)
CG4829 36
  • 26 (a)
ManyToMany
EG:23E12.1 37
  • 42 (a)
CG4829 37
  • 41 (a)
CG6461 37
  • 45 (a)
CG1492 37
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea 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
Y7A9A.1 37
  • 36 (a)
C53D5.5 37
  • 41 (a)
T03D8.6 37
  • 34 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR144W 35
  • 50.29 (n)
  • 37.33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ECM38 35
  • 43.48 (n)
  • 35.26 (a)
ECM38 36
  • 27 (a)
OneToMany
ECM38 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C05236g 35
  • 42.92 (n)
  • 36.29 (a)
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 MAF
rs380131 -- 24,617,730(-) CTGCT(C/T)GAAGA intron-variant
rs389004 -- 24,615,365(+) AGCAC(A/G)TGGAG intron-variant
rs391837 -- 24,622,283(+) aaccc(A/G)gccgg intron-variant
rs416588 -- 24,629,021(+) AGTGT(A/T)TTGTG downstream-variant-500B
rs493075 -- 24,614,392(+) gcagg(C/T)ggatc intron-variant

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

Relevant External Links for GGT1 Gene

HapMap Linkage Disequilibrium report
GGT1

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

Disorders for GGT1 Gene

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.

(96) Novoseek inferred disease relationships for GGT1 Gene

Disease -log(P) Hits PubMed IDs
liver diseases 81.4 83
cholestasis 79.8 44
fatty liver 79.7 54
cholestasis intrahepatic 73.8 16
liver damage 72.1 25

Relevant External Links for GGT1

Genetic Association Database (GAD)
GGT1
Human Genome Epidemiology (HuGE) Navigator
GGT1
genes like me logo Genes that share disorders with GGT1: view

Publications for GGT1 Gene

  1. Human gamma-glutamyl transpeptidase mutants involving conserved aspartate residues and the unique cysteine residue of the light subunit. (PMID: 7759490) Ikeda Y. … Meister A. (J. Biol. Chem. 1995) 3 4 23
  2. Gamma-glutamyl transpeptidase gene organization and expression: a comparative analysis in rat, mouse, pig and human species. (PMID: 10392451) Chikhi N. … Laperche Y. (Comp. Biochem. Physiol. 1999) 3 4 23
  3. 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
  4. [The value of gamma-glutamyl transpeptidase mRNA typing in monitoring carcinogensis of heptocytes]. (PMID: 11940314) Han G. … Liu H. (Zhonghua Nei Ke Za Zhi 2002) 3 23
  5. Glucose intolerance and serum aminotransferase activities in Japanese men. (PMID: 12480555) Miyake Y. … Kono S. (J. Hepatol. 2003) 3 23

Products for GGT1 Gene

Sources for GGT1 Gene

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