GSTT1

glutathione S-transferase theta 1, the group of Soluble glutathione S-transferases

Basic information

Links

ENSG00000277656

∙ NCBI:2952 ∙ OMIM:600436 ∙ HGNC:4641 ∙ Uniprot:P30711 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GSTT1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GSTT1 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Acts on 1,2- epoxy-3-(4-nitrophenoxy)propane, phenethylisothiocyanate 4- nitrobenzyl chloride and 4-nitrophenethyl bromide. Displays glutathione peroxidase activity with cumene hydroperoxide. {ECO:0000269|PubMed:16298388, ECO:0000269|PubMed:20097269}.;
Pathway: Glutathione metabolism - Homo sapiens (human);Hepatocellular carcinoma - 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);Platinum Pathway, Pharmacokinetics/Pharmacodynamics;Etoposide Pathway, Pharmacokinetics/Pharmacodynamics;Acetaminophen Metabolism Pathway;Glutathione metabolism;Nuclear Receptors Meta-Pathway;NRF2 pathway;Glutathione conjugation;Phase II - Conjugation of compounds;glutathione-mediated detoxification;Biological oxidations;Metabolism (Consensus)

Recessive Scores

pRec: 0.552

Intolerance Scores

loftool: 0.671
rvis_EVS: 0.73
rvis_percentile_EVS: 85.98

Haploinsufficiency Scores

pHI: 0.237
hipred: N
hipred_score: 0.375
ghis

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.379

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Gstt1
Phenotype: homeostasis/metabolism phenotype;

Gene ontology

Biological process: glutathione metabolic process;cellular oxidant detoxification;glutathione derivative biosynthetic process
Cellular component: cytosol;extracellular exosome
Molecular function: glutathione transferase activity;glutathione peroxidase activity;protein binding