This gene encodes a member of the gamma-glutamyl transpeptidase (GGT) family, which are important in the metabolism of glutathione. The most ubiquitously expressed human GGT gene, GGT1, encodes a single transmembrane polypeptide that is post-translationally processed to form a heavy and a light chain. In contrast, the product of this gene only contains homology to the light cha... See more...

Aliases for GGTLC1 Gene

Aliases for GGTLC1 Gene

  • Gamma-Glutamyltransferase Light Chain 1 2 3 4 5
  • Gamma-Glutamyltransferase-Like Activity 4 2 3 4
  • Gamma-Glutamyltransferase-Like Activity 3 2 3
  • Gamma-Glutamyltransferase-Like Protein 6 3 4
  • Glutathione Hydrolase Light Chain 1 3 4
  • DJ831C21.1 2 3
  • DJ831C21.2 2 3
  • GGTLA4 3 4
  • Gamma-Glutamyl Transpeptidase 3
  • EC 2.3.2.2 51
  • GGTLA3 3
  • GGTLC1 5
  • GGTL6 3

External Ids for GGTLC1 Gene

Previous HGNC Symbols for GGTLC1 Gene

  • GGTLA4
  • GGTLA3

Previous GeneCards Identifiers for GGTLC1 Gene

  • GC20M023914

Summaries for GGTLC1 Gene

Entrez Gene Summary for GGTLC1 Gene

  • This gene encodes a member of the gamma-glutamyl transpeptidase (GGT) family, which are important in the metabolism of glutathione. The most ubiquitously expressed human GGT gene, GGT1, encodes a single transmembrane polypeptide that is post-translationally processed to form a heavy and a light chain. In contrast, the product of this gene only contains homology to the light chain region, and lacks a transmembrane domain. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]

GeneCards Summary for GGTLC1 Gene

GGTLC1 (Gamma-Glutamyltransferase Light Chain 1) is a Protein Coding gene. Diseases associated with GGTLC1 include Bladder Sarcoma. Among its related pathways are Folate Metabolism and Eicosanoid Synthesis. Gene Ontology (GO) annotations related to this gene include obsolete gamma-glutamyltransferase activity. An important paralog of this gene is GGT1.

Additional gene information for GGTLC1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GGTLC1 Gene

Genomics for GGTLC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GGTLC1 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
GH20J023986 Promoter 0.4 EPDnew 600.7 +2.3 2289 0.1 ZNF24 GGTLC1 piR-47694-001 ENSG00000236168 CST5
GH20J024034 Enhancer 0.8 Ensembl 6.5 -45.8 -45767 0.6 CREB1 ZHX2 FOXA1 SP1 CEBPA CTBP1 FOXA2 MAFF ESRRA YY1 GGTLC1 HSALNG0129296 lnc-SYNDIG1-4 SYNDIG1
GH20J023978 Enhancer 0.9 Ensembl ENCODE 5.6 +8.4 8433 5.4 CTCF PHB2 FOXK2 SOX13 FOXA1 RAD51 YBX1 E4F1 NONO SP1 ENSG00000236168 GGTLC1 HSALNG0129289 CST5
GH20J024025 Enhancer 0.9 FANTOM5 Ensembl ENCODE 5.4 -37.9 -37867 3.2 SP1 GABPA JUN MAX GGTLC1 lnc-SYNDIG1-4 HSALNG0129296 SYNDIG1
GH20J024095 Enhancer 0.9 Ensembl ENCODE 4.7 -107.6 -107632 3.1 CREB1 PRDM10 ZNF629 FOXA1 PRDM1 PHB2 ZNF341 SP2 TSHZ1 MAFF GGTLC1 HSALNG0129302 lnc-GGTLC1-2 LOC105372576 LINC01721 SYNDIG1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GGTLC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GGTLC1

Genomic Locations for GGTLC1 Gene

Genomic Locations for GGTLC1 Gene
chr20:23,985,050-23,989,134
(GRCh38/hg38)
Size:
4,085 bases
Orientation:
Minus strand
chr20:23,965,690-23,969,416
(GRCh37/hg19)
Size:
3,727 bases
Orientation:
Minus strand

Genomic View for GGTLC1 Gene

Genes around GGTLC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GGTLC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GGTLC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GGTLC1 Gene

Proteins for GGTLC1 Gene

  • Protein details for GGTLC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BX51-GGTL1_HUMAN
    Recommended name:
    Glutathione hydrolase light chain 1
    Protein Accession:
    Q9BX51
    Secondary Accessions:
    • D3DW43
    • Q08246

    Protein attributes for GGTLC1 Gene

    Size:
    225 amino acids
    Molecular mass:
    24274 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Corresponds to the light chain of other gamma-glutamyltransferase family members. Has no catalytic activity.

neXtProt entry for GGTLC1 Gene

Selected DME Specific Peptides for GGTLC1 Gene

Q9BX51:
  • PGKQPLSSMCP
  • ATSTINLYFGSKV
  • DDGGTAHLS
  • PSPANFI

Post-translational modifications for GGTLC1 Gene

  • Glycosylation at Asn167
  • Glycosylation from GlyConnect
    • GGTL1_HUMAN (1259)

Domains & Families for GGTLC1 Gene

Gene Families for GGTLC1 Gene

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

Protein Domains for GGTLC1 Gene

Suggested Antigen Peptide Sequences for GGTLC1 Gene

GenScript: Design optimal peptide antigens:
  • Gamma-glutamyltransferase-like activity 4, isoform CRA_b (D3DW46_HUMAN)
  • Gamma-glutamyltransferase-like protein 6 (GGTL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BX51

UniProtKB/Swiss-Prot:

GGTL1_HUMAN :
  • Belongs to the gamma-glutamyltransferase family.
Family:
  • Belongs to the gamma-glutamyltransferase family.
genes like me logo Genes that share domains with GGTLC1: view

Function for GGTLC1 Gene

Enzyme Numbers (IUBMB) for GGTLC1 Gene

Phenotypes From GWAS Catalog for GGTLC1 Gene

Gene Ontology (GO) - Molecular Function for GGTLC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0036374 glutathione hydrolase activity IEA --
genes like me logo Genes that share ontologies with GGTLC1: view
genes like me logo Genes that share phenotypes with GGTLC1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GGTLC1

No data available for Molecular function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GGTLC1 Gene

Localization for GGTLC1 Gene

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 GGTLC1 gene
Compartment Confidence
plasma membrane 3
extracellular 2
nucleus 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GGTLC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with GGTLC1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for GGTLC1 Gene

Pathways & Interactions for GGTLC1 Gene

genes like me logo Genes that share pathways with GGTLC1: view

Pathways by source for GGTLC1 Gene

Interacting Proteins for GGTLC1 Gene

Gene Ontology (GO) - Biological Process for GGTLC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006751 glutathione catabolic process IEA --
GO:0008150 biological_process ND --
GO:1901750 leukotriene D4 biosynthetic process ISS --
genes like me logo Genes that share ontologies with GGTLC1: view

No data available for SIGNOR curated interactions for GGTLC1 Gene

Drugs & Compounds for GGTLC1 Gene

No Compound Related Data Available

Transcripts for GGTLC1 Gene

mRNA/cDNA for GGTLC1 Gene

3 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
3 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 GGTLC1

Alternative Splicing Database (ASD) splice patterns (SP) for GGTLC1 Gene

No ASD Table

Relevant External Links for GGTLC1 Gene

GeneLoc Exon Structure for
GGTLC1

Expression for GGTLC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GGTLC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Lung (Respiratory System)
  • Kidney (Urinary System)
  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for GGTLC1 Gene

This gene is overexpressed in Lung (x30.3) and Testis (x19.4).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GGTLC1

SOURCE GeneReport for Unigene cluster for GGTLC1 Gene:

Hs.355394

Evidence on tissue expression from TISSUES for GGTLC1 Gene

  • Lung(4.2)
  • Nervous system(4.1)
  • Kidney(3)
  • Liver(2)
genes like me logo Genes that share expression patterns with GGTLC1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GGTLC1 Gene

Orthologs for GGTLC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GGTLC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GGTLC1 30 31
  • 98.67 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 69 (a)
ManyToMany
-- 31
  • 1 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia -- 31
  • 33 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia -- 31
  • 32 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Ggt1 31
  • 30 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
OneToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 26 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 25 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii ggt1a 31
  • 25 (a)
ManyToMany
ggt1b 31
  • 22 (a)
ManyToMany
ggt1l2.2 31
  • 17 (a)
ManyToMany
si:dkey-222h21.12 31
  • 17 (a)
ManyToMany
si:ch73-236c18.3 31
  • 16 (a)
ManyToMany
ggt1l2.1 31
  • 15 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG1492 31
  • 14 (a)
ManyToMany
CG4829 31
  • 11 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea C53D5.5 31
  • 17 (a)
ManyToMany
Y7A9A.1 31
  • 15 (a)
ManyToMany
H14N18.4 31
  • 14 (a)
ManyToMany
T03D8.6 31
  • 12 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ECM38 31
  • 12 (a)
OneToMany
Soybean
(Glycine max)
eudicotyledons Gma.14319 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 23 (a)
ManyToMany
CSA.7538 31
  • 20 (a)
ManyToMany
Species where no ortholog for GGTLC1 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)
  • 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)
  • Rat (Rattus norvegicus)
  • 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)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for GGTLC1 Gene

ENSEMBL:
Gene Tree for GGTLC1 (if available)
TreeFam:
Gene Tree for GGTLC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GGTLC1: view image

Paralogs for GGTLC1 Gene

Paralogs for GGTLC1 Gene

(6) SIMAP similar genes for GGTLC1 Gene using alignment to 1 proteins:

  • GGTL1_HUMAN
genes like me logo Genes that share paralogs with GGTLC1: view

Variants for GGTLC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GGTLC1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
785651 Benign: not provided 23,985,954(-) T/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GGTLC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GGTLC1 Gene

Variant ID Type Subtype PubMed ID
esv26651 CNV gain 19812545
esv2673741 CNV deletion 23128226
esv3645541 CNV loss 21293372
nsv1063474 CNV loss 25217958
nsv522873 CNV gain 19592680
nsv820636 CNV deletion 20802225
nsv833944 CNV gain 17160897
nsv953004 CNV deletion 24416366
nsv962565 CNV duplication 23825009
nsv962566 CNV duplication 23825009
nsv9793 CNV gain+loss 18304495
nsv979449 CNV duplication 23825009

Variation tolerance for GGTLC1 Gene

Residual Variation Intolerance Score: 82.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.68; 46.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GGTLC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GGTLC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GGTLC1 Gene

Disorders for GGTLC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GGTLC1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
bladder sarcoma
  • sarcoma of bladder
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with GGTLC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GGTLC1 Gene

Publications for GGTLC1 Gene

  1. The human gamma-glutamyltransferase gene family. (PMID: 18357469) Heisterkamp N … Sneddon TP (Human genetics 2008) 2 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4
  4. Molecular characterization of human acetyl-CoA synthetase, an enzyme regulated by sterol regulatory element-binding proteins. (PMID: 10843999) Luong A … Goldstein JL (The Journal of biological chemistry 2000) 2 3
  5. Human lung expresses unique gamma-glutamyl transpeptidase transcripts. (PMID: 7689219) Wetmore LA … Drazen JM (Proceedings of the National Academy of Sciences of the United States of America 1993) 3 4

Products for GGTLC1 Gene

Sources for GGTLC1 Gene