Free for academic non-profit institutions. Other users need a Commercial license
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]
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.
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 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO:0036374 | glutathione hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005575 | cellular_component | ND | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Eicosanoid Synthesis | ||
2 | Glutathione metabolism | ||
3 | NRF2 pathway | ||
4 | Folate Metabolism |
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 | -- |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GGTLC1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Ggt1 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | ggt1a 31 |
|
ManyToMany | |
ggt1b 31 |
|
ManyToMany | |||
ggt1l2.2 31 |
|
ManyToMany | |||
si:dkey-222h21.12 31 |
|
ManyToMany | |||
si:ch73-236c18.3 31 |
|
ManyToMany | |||
ggt1l2.1 31 |
|
ManyToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG1492 31 |
|
ManyToMany | |
CG4829 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | C53D5.5 31 |
|
ManyToMany | |
Y7A9A.1 31 |
|
ManyToMany | |||
H14N18.4 31 |
|
ManyToMany | |||
T03D8.6 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ECM38 31 |
|
OneToMany | |
Soybean (Glycine max) |
eudicotyledons | Gma.14319 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
CSA.7538 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
785651 | Benign: not provided | 23,985,954(-) | T/A | MISSENSE_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
bladder sarcoma |
|
|