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 51
  • D22S672 2 3
  • D22S732 2 3
  • CD224 2 3
  • 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
  • GGTD 3
  • GGT1 5
  • 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
  • GC22P024927

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 Arachidonic acid metabolism and Cytochrome P450 - arranged by substrate type. 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, such as leukotriene C4 (LTC4). The metabolism of glutathione by GGT1 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 (PubMed:17924658, PubMed:7673200, PubMed:7759490, PubMed:8095045, PubMed:8827453, PubMed:21447318). Contributes to cysteine homeostasis, glutathione homeostasis and in the conversion of the leukotriene LTC4 to LTD4.
  • [Isoform 3]: Seems to be inactive.

Gene Wiki entry 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 Pubs

Promoters and enhancers for GGT1 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GGT1

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

Genomic Locations for GGT1 Gene

Latest Assembly
chr22:24,583,750-24,629,005
(GRCh38/hg38)
Size:
45,256 bases
Orientation:
Plus strand

Previous Assembly
chr22:24,979,718-25,024,963
(GRCh37/hg19 by Entrez Gene)
Size:
45,246 bases
Orientation:
Plus strand

chr22:24,979,718-25,024,972
(GRCh37/hg19 by Ensembl)
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.
    SequenceCaution:
    • Sequence=AAA35899.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    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.
    • [Isoform 1]: Produced by alternative promoter usage.
    • [Isoform 2]: Produced by alternative splicing of isoform 1.
    • [Isoform 3]: Produced by alternative promoter usage.

    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

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

Protein Domains for GGT1 Gene

InterPro:
Blocks:
  • Gamma-glutamyltranspeptidase
ProtoNet:

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, such as leukotriene C4 (LTC4). The metabolism of glutathione by GGT1 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 (PubMed:17924658, PubMed:7673200, PubMed:7759490, PubMed:8095045, PubMed:8827453, PubMed:21447318). Contributes to cysteine homeostasis, glutathione homeostasis and in the conversion of the leukotriene LTC4 to LTD4.
UniProtKB/Swiss-Prot Function:
[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:21447318, ECO:0000269|PubMed:23682772, 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={ECO:0000269|PubMed:17924658, ECO:0000269|PubMed:21447318};.
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; Evidence={ECO:0000269|PubMed:17924658, ECO:0000269|PubMed:21447318};.
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={ECO:0000269|PubMed:21447318};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=11 mM for glycylglycine {ECO:0000269|PubMed:7759490}; KM=10.6 uM for glutathione {ECO:0000269|PubMed:21447318}; KM=8.8 uM for oxidized-glutathione {ECO:0000269|PubMed:21447318}; KM=1.3 mM for D-gamma-glutamyl-p-nitroanalide {ECO:0000269|PubMed:7759490}; KM=9.9 uM for S-methylglutathion {ECO:0000269|PubMed:21447318}; KM=33.4 uM for gamma-glutamyl leucine {ECO:0000269|PubMed:21447318}; KM=10.8 uM for leukotriene C4 {ECO:0000269|PubMed:21447318};
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by autocatalytic cleavage (PubMed:23682772). Inhibited by serine-borate (PubMed:21447318).
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 IBA,IDA 21447318
GO:0002951 leukotriene-C(4) hydrolase IDA,IMP 14754911
GO:0005515 protein binding IPI 15528406
GO:0008233 peptidase activity IEA --
GO:0016740 transferase 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:

Inhibitory RNAs for research

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

Clone products for research

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 5
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 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:0005615 extracellular space HDA 16502470
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA 20458337
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: Lipid metabolism; leukotriene D4 biosynthesis.
  • 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:0006412 translation IEA --
GO:0006508 proteolysis IEA,IMP 14754911
GO:0006520 cellular amino acid metabolic process TAS,IDA 14754911
GO:0006536 glutamate metabolic process IDA 21447318
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutathione Approved, Investigational Nutra Target 0
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 97
Water Approved Pharma 0
Glutamic acid Approved Nutra 320

(47) 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
5beta-Cholestanone
  • 5-Glutamyl-taurine
  • gamma-Glutamyltaurine
  • gamma-GT
  • gamma-L-Glutamyltaurine
  • Glutaurina
601-53-6
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
  • g-Glutamyl-b-cyanoalanine
  • Γ-glutamyl-β-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

Drug products for research

Transcripts for GGT1 Gene

mRNA/cDNA for GGT1 Gene

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

Inhibitory RNAs for research

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

Clone products for research

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

Expression for GGT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



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

  • Kidney(4.7)
  • Liver(4.6)
  • Lung(4.6)
  • Pancreas(4.5)
  • Blood(2.5)
  • Gall bladder(2.4)
  • Stomach(2.2)
  • Intestine(2.1)
  • Heart(2.1)

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 30
  • 98.83 (n)
Dog
(Canis familiaris)
Mammalia GGT1 30
  • 85.56 (n)
-- 31
  • 84 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia GGT1 30
  • 84.15 (n)
-- 31
  • 83 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Ggt1 30 17 31
  • 80.83 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Ggt1 30
  • 80.59 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 74 (a)
ManyToMany
-- 31
  • 66 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 72 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 67 (a)
OneToMany
GGT1 30
  • 66.6 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 63 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ggt1 30
  • 62.61 (n)
Zebrafish
(Danio rerio)
Actinopterygii ggt1a 30 31
  • 61.05 (n)
ManyToMany
ggt1b 31
  • 56 (a)
ManyToMany
ggt1l2.2 31
  • 50 (a)
ManyToMany
si:dkey-222h21.12 31
  • 48 (a)
ManyToMany
si:ch73-236c18.3 31
  • 45 (a)
ManyToMany
ggt1l2.1 31
  • 41 (a)
ManyToMany
zgc64172 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000853 30
  • 53.48 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG4829 30 31 32
  • 51.45 (n)
ManyToMany
CG6461 32
  • 45 (a)
EG:23E12.1 32
  • 42 (a)
CG1492 31 32
  • 34 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea C53D5.5 30 31 32
  • 48.7 (n)
ManyToMany
Y7A9A.1 31 32
  • 34 (a)
ManyToMany
H14N18.4 31
  • 34 (a)
ManyToMany
T03D8.6 31 32
  • 29 (a)
ManyToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AAR144W 30
  • 50.29 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ECM38 30 31
  • 43.48 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C05236g 30
  • 42.92 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons GGT2 30
  • 46.39 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 51 (a)
ManyToMany
CSA.7538 31
  • 50 (a)
ManyToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU01753 30
  • 49.45 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ggt1 30
  • 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)
  • 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)
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GGT1 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs114926965 Benign: not provided 24,621,039(+) G/A
NM_001288833.2(GGT1):c.702G>A (p.Thr234=)
SYNONYMOUS
rs185947660 Likely Benign: not provided 24,623,794(+) C/T
NM_001288833.2(GGT1):c.898C>T (p.Arg300Trp)
MISSENSE
rs200266956 Likely Benign: not provided 24,628,141(+) G/A
NM_001288833.2(GGT1):c.1397G>A (p.Arg466Gln)
MISSENSE
rs369713123 Benign: not provided 24,628,109(+) G/A
NM_001288833.2(GGT1):c.1365G>A (p.Pro455=)
SYNONYMOUS
rs532666474 Likely Benign: not provided 24,620,401(+) C/T
NM_001288833.2(GGT1):c.456C>T (p.Pro152=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GGT1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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 Assays for research

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

Disorders for GGT1 Gene

MalaCards: The human disease database

(63) MalaCards diseases for GGT1 Gene - From: OMI, CVR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
glutathionuria
  • gamma-glutamyltranspeptidase deficiency
obstructive jaundice
  • cholestatic jaundice
extrahepatic cholestasis
  • extrahepatic biliary stasis
liver disease
  • disorder of liver
biliary atresia
  • atresia of bile duct
- 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 variants 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
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GGT1: view

No data available for Genatlas for GGT1 Gene

Publications for GGT1 Gene

  1. 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 74
  2. Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. (PMID: 18940312) Yuan X … Mooser V (American journal of human genetics 2008) 3 23 41
  3. 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
  4. 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
  5. 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

Products for GGT1 Gene

Sources for GGT1 Gene