Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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

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
MIRT2240016	hsa-miR-767-3p	CLIP-seq

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
GO:0004602	Function	Glutathione peroxidase activity	TAS	9396740
GO:0005515	Function	Protein binding	IPI	17474147, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	20884751
GO:0005739	Component	Mitochondrion	ISS
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA	20884751
GO:0005829	Component	Cytosol	TAS
GO:0006559	Process	L-phenylalanine catabolic process	IBA
GO:0006559	Process	L-phenylalanine catabolic process	IEA
GO:0006559	Process	L-phenylalanine catabolic process	TAS	9417084
GO:0006572	Process	L-tyrosine catabolic process	IEA
GO:0006749	Process	Glutathione metabolic process	IBA
GO:0006749	Process	Glutathione metabolic process	IDA	10739172
GO:0009072	Process	Aromatic amino acid metabolic process	IEA
GO:0016034	Function	Maleylacetoacetate isomerase activity	IBA
GO:0016034	Function	Maleylacetoacetate isomerase activity	IDA	10739172
GO:0016034	Function	Maleylacetoacetate isomerase activity	IEA
GO:0016034	Function	Maleylacetoacetate isomerase activity	TAS	10373324
GO:0016740	Function	Transferase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	16189514, 25416956, 32296183
GO:0042803	Function	Protein homodimerization activity	IPI	10739172
GO:0098869	Process	Cellular oxidant detoxification	IEA
GO:1990748	Process	Cellular detoxification	IDA	20884751

MIM	HGNC	e!Ensembl
603758	4643	ENSG00000100577

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

MQAGKPILYSYFRSSCSWRVRIALALKGIDYKTVPINLIKDRGQQFSKDFQALNPMKQVP
TLKIDGITIHQSLAIIEYLEEMRPTPRLLPQDPKKRASVRMISDLIAGGIQPLQNLSVLK
QVGEEMQLTWAQNAITCGFNALEQILQSTAGIYCVGDEVTMADLCLVPQVANAERFKVDL
TPYPTISSINKRLLVLEAFQVSHPCRQPDTPTELRA

Sequence length

216

Interactions

View interactions

	KEGG		Reactome
	Tyrosine metabolism Metabolic pathways		Glutathione conjugation Regulation of pyruvate dehydrogenase (PDH) complex Tyrosine catabolism

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
GSTZ1-related disorder	Likely pathogenic	rs140540096	RCV004758023
Maleylacetoacetate isomerase deficiency	Pathogenic; Likely pathogenic	rs200122889, rs1368031096, rs140540096, rs1303562049	RCV003152865 RCV003234981 RCV000496086 RCV000995560

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	31370365
Amyotrophic Lateral Sclerosis	Associate	34311603
Anxiety Disorders	Associate	32507125
Breast Neoplasms	Stimulate	26850694
Carcinoma Hepatocellular	Inhibit	26850694, 31782257
Carcinoma Hepatocellular	Associate	33931597, 36341373
Carcinoma Non Small Cell Lung	Associate	36630201
Fatigue	Associate	22454423
Hypoxia	Associate	38287425
Lung Neoplasms	Associate	19887610, 36630201
Multiple Myeloma	Associate	31624634
Neoplasms	Inhibit	31782257
Neoplasms	Associate	36291099
Nervous System Diseases	Associate	31624634
Ovarian Diseases	Associate	25298284
Ovarian Neoplasms	Associate	29910195
Phobia Social	Associate	32507125
Squamous Cell Carcinoma of Head and Neck	Associate	29802697
Tyrosinemias	Associate	9417084
Urinary Bladder Neoplasms	Associate	20675267, 22306368, 40570095
Vestibular Diseases	Associate	18776599

GSTZ1 (glutathione S-transferase zeta 1)