Gamma-glutamyltransferase-1 (GGT1; MIM 612346) is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. Autocatalytic cleavage of the GGT1 precursor polypeptide produces a heavy chain and a light chain that associate with each other to form the functional enzyme. Li... See more...

Aliases for GGTLC3 Gene

Aliases for GGTLC3 Gene

  • Gamma-Glutamyltransferase Light Chain Family Member 3 2 3 5
  • Putative Gamma-Glutamyltransferase Light Chain 3 3 4
  • Putative Glutathione Hydrolase Light Chain 3 3 4
  • Gamma-Glutamyltransferase Light Chain 3 2 3
  • EC 2.3.2.2 51
  • GGTLC3 5
  • GGT 3

External Ids for GGTLC3 Gene

Previous GeneCards Identifiers for GGTLC3 Gene

  • GC22M018747
  • GC22M020366

Summaries for GGTLC3 Gene

Entrez Gene Summary for GGTLC3 Gene

  • Gamma-glutamyltransferase-1 (GGT1; MIM 612346) is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. Autocatalytic cleavage of the GGT1 precursor polypeptide produces a heavy chain and a light chain that associate with each other to form the functional enzyme. Light chain-only GGTs, such as GGTLC3, contain a region corresponding to the GGT1 light chain, but they lack the membrane-anchoring heavy chain region (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008]

GeneCards Summary for GGTLC3 Gene

GGTLC3 (Gamma-Glutamyltransferase Light Chain Family Member 3) is a Protein Coding gene. Diseases associated with GGTLC3 include Contractural Arachnodactyly, Congenital and Cataract 4, Multiple Types. Gene Ontology (GO) annotations related to this gene include obsolete gamma-glutamyltransferase activity. An important paralog of this gene is GGT2.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GGTLC3 Gene

Genomics for GGTLC3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GGTLC3 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
GH22J018510 Enhancer 0.6 Ensembl 0.4 +5.9 5864 5.4 FOXA1 ZNF623 NBN YBX1 LCORL FOXP1 ZNF18 SOX6 ZSCAN4 TRIM22 FAM247B piR-48049-050 ENSG00000273300 DGCR11 GGTLC3 HSALNG0133957-002 USP18
GH22J018515 Enhancer 0.2 Ensembl 0.7 +2.2 2216 0.7 piR-48049-050 GGTLC3 HSALNG0133957-002 USP18
GH22J018149 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 0 +367.9 367947 2.8 MXD4 MNT IRF2 POLR2A HOMEZ THAP11 SIN3A HCFC1 ZNF511 FOXA2 ENSG00000280007 USP18 lnc-MICAL3-7 TUBA8 piR-58297-290 GGTLC3
GH22J018385 Promoter 0.7 EPDnew Ensembl 0.1 +131.4 131365 1.6 FAM230J HSALNG0133957-003 GGTLC3 HSALNG0133957-002 USP18
GH22J018483 Enhancer 0.2 Ensembl 0.3 +34.0 33964 1.2 ENSG00000277017 GGTLC3 HSALNG0133957-004 FAM230A HSALNG0133957-002 USP18
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GGTLC3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GGTLC3

Genomic Locations for GGTLC3 Gene

Latest Assembly
chr22:18,516,335-18,518,165
(GRCh38/hg38)
Size:
1,831 bases
Orientation:
Minus strand

Previous Assembly
chr22:20,366,211-20,368,028
(GRCh37/hg19 by Entrez Gene)
Size:
1,818 bases
Orientation:
Minus strand

Genomic View for GGTLC3 Gene

Genes around GGTLC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GGTLC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GGTLC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GGTLC3 Gene

Proteins for GGTLC3 Gene

  • Protein details for GGTLC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    B5MD39-GGTL3_HUMAN
    Recommended name:
    Putative glutathione hydrolase light chain 3
    Protein Accession:
    B5MD39
    Secondary Accessions:
    • A6NEA2

    Protein attributes for GGTLC3 Gene

    Size:
    225 amino acids
    Molecular mass:
    24102 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 GGTLC3 Gene

Selected DME Specific Peptides for GGTLC3 Gene

B5MD39:
  • PSPANFI
  • PEFYTPDD
  • VVQAIVRT
  • ATSTINLYFGSKV
  • DDGGTAHLS

Post-translational modifications for GGTLC3 Gene

No Post-translational modifications

Other Protein References for GGTLC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for GGTLC3 Gene

Gene Families for GGTLC3 Gene

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

Protein Domains for GGTLC3 Gene

Suggested Antigen Peptide Sequences for GGTLC3 Gene

GenScript: Design optimal peptide antigens:
  • Putative gamma-glutamyltransferase light chain 3 (GGTL3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

B5MD39

UniProtKB/Swiss-Prot:

GGTL3_HUMAN :
  • Belongs to the gamma-glutamyltransferase family.
Family:
  • Belongs to the gamma-glutamyltransferase family.
genes like me logo Genes that share domains with GGTLC3: view

Function for GGTLC3 Gene

Enzyme Numbers (IUBMB) for GGTLC3 Gene

Gene Ontology (GO) - Molecular Function for GGTLC3 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 GGTLC3: view

No data available for Molecular function , Phenotypes From GWAS Catalog , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GGTLC3 Gene

Localization for GGTLC3 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 GGTLC3 gene
Compartment Confidence
extracellular 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GGTLC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with GGTLC3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for GGTLC3 Gene

Pathways & Interactions for GGTLC3 Gene

PathCards logo

SuperPathways for GGTLC3 Gene

No Data Available

Interacting Proteins for GGTLC3 Gene

Gene Ontology (GO) - Biological Process for GGTLC3 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 GGTLC3: view

No data available for Pathways by source and SIGNOR curated interactions for GGTLC3 Gene

Drugs & Compounds for GGTLC3 Gene

No Compound Related Data Available

Transcripts for GGTLC3 Gene

mRNA/cDNA for GGTLC3 Gene

1 REFSEQ mRNAs :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for GGTLC3 Gene

No ASD Table

Relevant External Links for GGTLC3 Gene

GeneLoc Exon Structure for
GGTLC3

Expression for GGTLC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GGTLC3 Gene

mRNA differential expression in normal tissues according to GTEx for GGTLC3 Gene

This gene is overexpressed in Kidney - Cortex (x19.4), Thyroid (x7.8), and Lung (x5.5).

Protein differential expression in normal tissues from HIPED for GGTLC3 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GGTLC3 Gene



Protein tissue co-expression partners for GGTLC3 Gene

- Elite partner

Evidence on tissue expression from TISSUES for GGTLC3 Gene

  • Liver(2.2)
  • Lung(2.2)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with GGTLC3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GGTLC3 Gene

Orthologs for GGTLC3 Gene

Evolution for GGTLC3 Gene

ENSEMBL:
Gene Tree for GGTLC3 (if available)
TreeFam:
Gene Tree for GGTLC3 (if available)

No data available for Orthologs for GGTLC3 Gene

Paralogs for GGTLC3 Gene

Paralogs for GGTLC3 Gene

(7) SIMAP similar genes for GGTLC3 Gene using alignment to 2 proteins:

  • GGTL3_HUMAN
  • J3KR28_HUMAN
genes like me logo Genes that share paralogs with GGTLC3: view

Variants for GGTLC3 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GGTLC3 Gene

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

Variation tolerance for GGTLC3 Gene

Gene Damage Index Score: 0.83; 17.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GGTLC3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GGTLC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for GGTLC3 Gene

Disorders for GGTLC3 Gene

MalaCards: The human disease database

(8) MalaCards diseases for GGTLC3 Gene - From: COP

Disorder Aliases PubMed IDs
contractural arachnodactyly, congenital
  • cca
cataract 4, multiple types
  • ctrct4
cataract 34, multiple types
  • ctrct34
glutathionuria
  • gamma-glutamyltranspeptidase deficiency
loeys-dietz syndrome 2
  • lds2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GGTLC3

genes like me logo Genes that share disorders with GGTLC3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GGTLC3 Gene

Publications for GGTLC3 Gene

  1. The human gamma-glutamyltransferase gene family. (PMID: 18357469) Heisterkamp N … Sneddon TP (Human genetics 2008) 2 3 4
  2. Inflammation-dependent overexpression of c-Myc enhances CRL4DCAF4 E3 ligase activity and promotes ubiquitination of ST7 in colitis-associated cancer. (PMID: 30945288) Liu H … Yang C (The Journal of pathology 2019) 3
  3. In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. (PMID: 23533145) Principe S … Drake RR (Proteomics 2013) 3
  4. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 4
  5. Expression of multiple gamma-glutamyltransferase genes in man. (PMID: 7906515) Courtay C … Groffen J (The Biochemical journal 1994) 3

Products for GGTLC3 Gene

Sources for GGTLC3 Gene