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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
External Ids for GGTLC3 Gene
- HGNC: 33426
- NCBI Entrez Gene: 728226
- Ensembl: ENSG00000274252
- OMIM®: 612340
- UniProtKB/Swiss-Prot: B5MD39
Previous GeneCards Identifiers for GGTLC3 Gene
- GC22M018747
- GC22M020366
Summaries 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.
Additional gene information for GGTLC3 Gene
- HGNC (33426)
- NCBI Entrez Gene (728226)
- Ensembl (ENSG00000274252)
- OMIM® (612340)
- UniProtKB/Swiss-Prot (B5MD39)
- Open Targets Platform(ENSG00000274252)
- Search for GGTLC3 at DataMed
- Search for GGTLC3 at HumanCyc
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:
-
- 22q11.21 by HGNC
- 22q11.21 by Entrez Gene
- 22q11.21 by Ensembl
GGTLC3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression 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:
Antibodies for research
- Invitrogen Antibodies for GGTLC3 (AFLGC-GGTLC3)
-
Santa Cruz Biotechnology (SCBT) Antibodies for GGTLC3
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for GGTLC3
- Origene Custom Protein Services for GGTLC3
Assay products for research
Domains & Families for GGTLC3 Gene
Gene Families for GGTLC3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for GGTLC3 Gene
- InterPro:
- ProtoNet:
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- Family:
-
- Belongs to the gamma-glutamyltransferase family.
Function for GGTLC3 Gene
Enzyme Numbers (IUBMB) for GGTLC3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0036374 | glutathione hydrolase activity | IEA | -- |
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GGTLC3 - Starting at $85 >
- * GGTLC3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
- Browse CRISPR knockouts for GGTLC3
miRNA products for research
Inhibitory RNAs for research
Clone products for research
- Applied Biological Materials (abm): Clones for GGTLC3 - Starting at $45 >
- * GGTLC3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
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
| 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 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0070062 | extracellular exosome | HDA | 23533145 |
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
Interacting Proteins for GGTLC3 Gene
GPS-Prot Interaction Network for GGTLC3
| 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 | -- |
No data available for Pathways by source and SIGNOR curated interactions for GGTLC3 Gene
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 :
-
- ENST00000619998 968 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GGTLC3 - Starting at $85 >
- * GGTLC3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
- Browse CRISPR knockouts for GGTLC3
miRNA products for research
Inhibitory RNAs for research
Clone products for research
- Applied Biological Materials (abm): Clones for GGTLC3 - Starting at $45 >
- * GGTLC3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
Relevant External Links for GGTLC3 Gene
- GeneLoc Exon Structure for
- GGTLC3
Expression 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).
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
- Elite partner
Evidence on tissue expression from TISSUES for GGTLC3 Gene
- Liver(2.2)
- Lung(2.2)
- Blood(2.1)
Primer products for research
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
No data available for Orthologs for GGTLC3 Gene
Paralogs for GGTLC3 Gene
Variants for GGTLC3 Gene
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| contractural arachnodactyly, congenital |
|
|
| cataract 4, multiple types |
|
|
| cataract 34, multiple types |
|
|
| glutathionuria |
|
|
| loeys-dietz syndrome 2 |
|
|
Search GGTLC3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for GGTLC3
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for GGTLC3 Gene
Publications for GGTLC3 Gene
- The human gamma-glutamyltransferase gene family. (PMID: 18357469) Heisterkamp N … Sneddon TP (Human genetics 2008) 2 3 4
- 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
- In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. (PMID: 23533145) Principe S … Drake RR (Proteomics 2013) 3
- The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 4
- Expression of multiple gamma-glutamyltransferase genes in man. (PMID: 7906515) Courtay C … Groffen J (The Biochemical journal 1994) 3
ExternalLinks
Products for GGTLC3 Gene
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for GGTLC3
- Origene Custom Protein Services for GGTLC3
- Browse OriGene Inhibitory RNA Products For GGTLC3
- Browse OriGene qPCR primer pairs and template standards
- Browse CRISPR knockouts for GGTLC3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For GGTLC3
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Invitrogen Antibodies for GGTLC3 (AFLGC-GGTLC3)
- VectorBuilder Custom and pre-made DNA vectors for GGTLC3 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for GGTLC3 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for GGTLC3 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for GGTLC3 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for GGTLC3
- antibodies-online: Search results for available GGTLC3 related products ranked by validation data
- antibodies-online: Search results for available GGTLC3 related products ranked by validation data
- antibodies-online: Search results for available GGTLC3 related products ranked by validation data
- Santa Cruz Biotechnology (SCBT) Antibodies for GGTLC3
- Search Santa Cruz Biotechnology (SCBT) for GGTLC3 siRNA/shRNA
- Browse Santa Cruz Biotechnology (SCBT) for GGTLC3 CRISPR
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for knockout CRISPR/Cas9 clones, lentivirus, and/or AAV products for GGTLC3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles, and/or promoter clone products for GGTLC3
- Search GeneCopoeia for miRNA 3'UTR Target clone products for GGTLC3
- Search GeneCopoeia for shRNA, lentivirus, and/or AAV clone products for GGTLC3
Sources for GGTLC3 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB