GSTZ1 (glutathione S-transferase zeta 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2954
Gene name Glutathione S-transferase zeta 1
Gene symbol GSTZ1
Synonyms (NCBI Gene)
GSTZ1-1MAAIMAAIDMAI
Chromosome 14
Chromosome location 14q24.3
Summary This gene is a member of the glutathione S-transferase (GSTs) super-family which encodes multifunctional enzymes important in the detoxification of electrophilic molecules, including carcinogens, mutagens, and several therapeutic drugs, by conjugation wit
SNPs SNP information provided by dbSNP.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs140540096 G>A Affects Missense variant, intron variant, coding sequence variant
rs199552988 C>T Affects Coding sequence variant, missense variant
rs747265163 C>A,T Affects, other Coding sequence variant, synonymous variant, stop gained, intron variant
rs776678047 G>A,T Affects Intron variant
rs1303562049 A>G Pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
6
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (6)
miRTarBase ID miRNA Experiments Reference
MIRT735300 hsa-miR-376c-3p Luciferase reporter assayMicroarrayqRT-PCR 32357971
MIRT2240012 hsa-miR-1914 CLIP-seq
MIRT2240013 hsa-miR-4268 CLIP-seq
MIRT2240014 hsa-miR-4448 CLIP-seq
MIRT2240015 hsa-miR-663b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (32)
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004364 Function Glutathione transferase activity IBA
GO:0004364 Function Glutathione transferase activity IDA 10739172
GO:0004364 Function Glutathione transferase activity IEA
GO:0004364 Function Glutathione transferase activity TAS 9396740
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603758 4643 ENSG00000100577
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43708
Protein name Maleylacetoacetate isomerase (MAAI) (EC 5.2.1.2) (GSTZ1-1) (Glutathione S-transferase zeta 1) (EC 2.5.1.18)
Protein function Bifunctional enzyme showing minimal glutathione-conjugating activity with ethacrynic acid and 7-chloro-4-nitrobenz-2-oxa-1,3-diazole and maleylacetoacetate isomerase activity. Also has low glutathione peroxidase activity with T-butyl and cumene
PDB 1FW1 , 8E8P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13417 GST_N_3 8 → 87 Glutathione S-transferase, N-terminal domain Domain
PF14497 GST_C_3 103 → 200 Glutathione S-transferase, C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Mostly expressed in liver followed by kidney, skeletal muscle and brain. Also expressed in melanocytes, synovium, placenta, breast and fetal liver and heart.
Sequence
Sequence length 216
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Tyrosine metabolism
Metabolic pathways 		  Glutathione conjugation
Regulation of pyruvate dehydrogenase (PDH) complex
Tyrosine catabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
GSTZ1-related disorder Likely pathogenic rs140540096 RCV004758023
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Maleylacetoacetate isomerase deficiency Pathogenic; Likely pathogenic rs200122889, rs1368031096, rs140540096, rs1303562049 RCV003152865
RCV003234981
RCV000496086
RCV000995560
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (4)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEFICIENCY OF MALEYLACETOACETATE ISOMERASE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VESTIBULAR DISEASES — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (50)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 30095910
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 21948024
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31370365 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 34311603 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety disorder Pubtator 32507125 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 22374552
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder PSYGENET_DG 22374552
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm Bladder Neoplasm BEFREE 20675267, 22306368, 29875071
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm CTD_human_DG 22306368
★★★★★
★☆☆☆☆
Found in Text Mining only
Borderline Personality Disorder Borderline personality disorder BEFREE 22374552
★★★★★
★☆☆☆☆
Found in Text Mining only