GSTP1
glutathione S-transferase pi 1, the group of Soluble glutathione S-transferases
Basic information
Region (hg38): 11:67583742-67586656
Previous symbols: [ "FAEES3", "GST3" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (16 variants)
- not_provided (2 variants)
- Kala-azar_susceptibility_2 (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the GSTP1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000852.4. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | |||||
| missense | 16 | 16 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 16 | 1 | 1 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| GSTP1 | protein_coding | protein_coding | ENST00000398606 | 7 | 3066 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0142 | 0.959 | 124783 | 0 | 16 | 124799 | 0.0000641 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.334 | 129 | 119 | 1.09 | 0.00000661 | 1323 |
| Missense in Polyphen | 26 | 28.673 | 0.90677 | 407 | ||
| Synonymous | 1.00 | 46 | 55.5 | 0.829 | 0.00000321 | 433 |
| Loss of Function | 1.93 | 5 | 12.3 | 0.406 | 5.34e-7 | 141 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000188 | 0.000187 |
| Ashkenazi Jewish | 0.0000993 | 0.0000993 |
| East Asian | 0.0000557 | 0.0000556 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000532 | 0.0000530 |
| Middle Eastern | 0.0000557 | 0.0000556 |
| South Asian | 0.000131 | 0.000131 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Regulates negatively CDK5 activity via p25/p35 translocation to prevent neurodegeneration. {ECO:0000269|PubMed:21668448}.;
- Pathway
- Glutathione metabolism - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Prostate cancer - Homo sapiens (human);Fluid shear stress and atherosclerosis - Homo sapiens (human);Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human);Drug metabolism - other enzymes - Homo sapiens (human);Drug metabolism - cytochrome P450 - Homo sapiens (human);Chemical carcinogenesis - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Busulfan Pathway, Pharmacodynamics;Platinum Pathway, Pharmacokinetics/Pharmacodynamics;Pathway_PA165986194 -need delete;Acetaminophen Pathway, Pharmacokinetics;Etoposide Pathway, Pharmacokinetics/Pharmacodynamics;Ifosfamide Pathway, Pharmacodynamics;Acetaminophen Metabolism Pathway;Nuclear Receptors Meta-Pathway;NRF2 pathway;Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling;Exercise-induced Circadian Regulation;Arachidonate Epoxygenase - Epoxide Hydrolase;Metapathway biotransformation Phase I and II;Neutrophil degranulation;Detoxification of Reactive Oxygen Species;multi-drug resistance factors;Glutathione conjugation;Phase II - Conjugation of compounds;Cellular responses to stress;glutathione-mediated detoxification;Biological oxidations;Innate Immune System;Immune System;Metabolism;4-hydroxy-2-nonenal detoxification;Cellular responses to external stimuli
(Consensus)
Recessive Scores
- pRec
- 0.753
Intolerance Scores
- loftool
- 0.722
- rvis_EVS
- -0.09
- rvis_percentile_EVS
- 46.74
Haploinsufficiency Scores
- pHI
- 0.202
- hipred
- Y
- hipred_score
- 0.588
- ghis
- 0.498
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.792
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Gstp3
- Phenotype
Gene ontology
- Biological process
- response to reactive oxygen species;negative regulation of acute inflammatory response;negative regulation of protein kinase activity;glutathione metabolic process;xenobiotic metabolic process;central nervous system development;negative regulation of biosynthetic process;negative regulation of tumor necrosis factor-mediated signaling pathway;oligodendrocyte development;animal organ regeneration;response to estradiol;negative regulation of interleukin-1 beta production;negative regulation of tumor necrosis factor production;cellular response to insulin stimulus;regulation of stress-activated MAPK cascade;negative regulation of stress-activated MAPK cascade;positive regulation of superoxide anion generation;response to L-ascorbic acid;common myeloid progenitor cell proliferation;nitric oxide storage;negative regulation of apoptotic process;negative regulation of I-kappaB kinase/NF-kappaB signaling;response to amino acid;neutrophil degranulation;negative regulation of MAP kinase activity;negative regulation of MAPK cascade;negative regulation of JUN kinase activity;linoleic acid metabolic process;response to ethanol;negative regulation of fibroblast proliferation;negative regulation of nitric-oxide synthase biosynthetic process;regulation of ERK1 and ERK2 cascade;negative regulation of ERK1 and ERK2 cascade;negative regulation of leukocyte proliferation;cellular response to lipopolysaccharide;cellular response to epidermal growth factor stimulus;cellular response to glucocorticoid stimulus;cellular response to cell-matrix adhesion;negative regulation of monocyte chemotactic protein-1 production;negative regulation of smooth muscle cell chemotaxis;cellular oxidant detoxification;glutathione derivative biosynthetic process;negative regulation of vascular smooth muscle cell proliferation;negative regulation of extrinsic apoptotic signaling pathway
- Cellular component
- extracellular region;extracellular space;nucleus;cytoplasm;mitochondrion;cytosol;plasma membrane;vesicle;secretory granule lumen;extracellular exosome;TRAF2-GSTP1 complex;ficolin-1-rich granule lumen
- Molecular function
- glutathione transferase activity;glutathione peroxidase activity;protein binding;drug binding;JUN kinase binding;kinase regulator activity;S-nitrosoglutathione binding;dinitrosyl-iron complex binding;glutathione binding;nitric oxide binding