GGT3P

gamma-glutamyltransferase 3 pseudogene, the group of Gamma-glutamyltransferases

Basic information

Region (hg38): 22:18773825-18791223

Previous symbols: [ "GGT3" ]

Links

ENSG00000197421

∙ NCBI:2679 ∙ ∙ HGNC:4252 ∙ Uniprot:A6NGU5 ∙ 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 GGT3P gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GGT3P 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: Initiates extracellular glutathione (GSH) breakdown; catalyzes the transfer of the glutamyl moiety of glutathione to amino acids and dipeptide acceptors. {ECO:0000250}.;
Pathway: Glutathione conjugation;Phase II - Conjugation of compounds;Biological oxidations;Metabolism;Glutathione synthesis and recycling;Aflatoxin activation and detoxification (Consensus)

Recessive Scores

pRec: 0.0998

Gene ontology

Biological process: regulation of immune system process;translation;proteolysis;cellular amino acid metabolic process;glutamate metabolic process;glutathione metabolic process;glutathione biosynthetic process;glutathione catabolic process;spermatogenesis;biological_process;cysteine biosynthetic process;peptide modification;response to estradiol;response to lipopolysaccharide;response to tumor necrosis factor;regulation of inflammatory response;leukotriene D4 biosynthetic process
Cellular component: integral component of membrane;extracellular exosome
Molecular function: peptidyltransferase activity;molecular_function;glutathione hydrolase activity;hypoglycin A gamma-glutamyl transpeptidase activity;leukotriene C4 gamma-glutamyl transferase activity