Endometriosis Knowledgebase

Search Result

Gene id

2954

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

GSTZ1 Gene UCSC Ensembl

Aliases

GSTZ1-1, MAAI, MAI

Gene name

glutathione S-transferase zeta 1

Alternate names

maleylacetoacetate isomerase, S-(hydroxyalkyl)glutathione lyase, glutathione S-alkyltransferase, glutathione S-aralkyltransferase, glutathione S-aryltransferase, glutathione transferase zeta 1, maleylacetone isomerase,

Gene location

14q24.3 (77320886: 77331596) Exons: 12 NC_000014.9

Gene summary(Entrez)

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 with glutathione. This enzyme catalyzes the conversion of maleylacetoacetate to fumarylacetoacatate, which is one of the steps in the phenylalanine/tyrosine degradation pathway. Deficiency of a similar gene in mouse causes oxidative stress. Several transcript variants of this gene encode multiple protein isoforms. [provided by RefSeq, Jul 2015]

OMIM

603758

Protein Summary

Protein general information

O43708

Name: Maleylacetoacetate isomerase (MAAI) (EC 5.2.1.2) (GSTZ1 1) (Glutathione S transferase zeta 1) (EC 2.5.1.18)

Length: 216 Mass: 24,212

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

MQAGKPILYSYFRSSCSWRVRIALALKGIDYKTVPINLIKDRGQQFSKDFQALNPMKQVPTLKIDGITIHQSLAI
IEYLEEMRPTPRLLPQDPKKRASVRMISDLIAGGIQPLQNLSVLKQVGEEMQLTWAQNAITCGFNALEQILQSTA
GIYCVGDEVTMADLCLVPQVANAERFKVDLTPYPTISSINKRLLVLEAFQVSHPCRQPDTPTELRA

Structural information

Protein Domains	GST (4-87) GST (92-212)
Interpro:	IPR010987 IPR004045 IPR004046 IPR005955 IPR034330 IPR034333 IPR012336
Prosite:	PS50405 PS50404
Pfam:	PF14497 PF13417
CDD:	cd03191 cd03042
PDB:	1FW1
PDBsum:	1FW1
MINT:	1444642
STRING:	ENSP00000216465;

Other Databases

GeneCards: GSTZ1; Malacards: GSTZ1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004364	glutathione transferase a ctivity	IDA	molecular_function
GO:0004364	glutathione transferase a ctivity	TAS	molecular_function
GO:0004602	glutathione peroxidase ac tivity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005739	mitochondrion	ISS	cellular_component
GO:0005739	mitochondrion	IBA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006559	L-phenylalanine catabolic process	IEA	biological_process
GO:0006559	L-phenylalanine catabolic process	TAS	biological_process
GO:0006572	tyrosine catabolic proces s	IEA	biological_process
GO:0006749	glutathione metabolic pro cess	IDA	biological_process
GO:0016034	maleylacetoacetate isomer ase activity	IDA	molecular_function
GO:0016034	maleylacetoacetate isomer ase activity	EXP	molecular_function
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0098869	cellular oxidant detoxifi cation	IEA	biological_process
GO:1901687	glutathione derivative bi osynthetic process	TAS	biological_process
GO:0003824	catalytic activity	IEA	molecular_function
GO:0003824	catalytic activity	IEA	molecular_function
GO:0004364	glutathione transferase a ctivity	IEA	molecular_function
GO:0004364	glutathione transferase a ctivity	IDA	molecular_function
GO:0004364	glutathione transferase a ctivity	TAS	molecular_function
GO:0004364	glutathione transferase a ctivity	TAS	molecular_function
GO:0004602	glutathione peroxidase ac tivity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005739	mitochondrion	ISS	cellular_component
GO:0005739	mitochondrion	IBA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006559	L-phenylalanine catabolic process	IEA	biological_process
GO:0006559	L-phenylalanine catabolic process	IEA	biological_process
GO:0006559	L-phenylalanine catabolic process	TAS	biological_process
GO:0006559	L-phenylalanine catabolic process	TAS	biological_process
GO:0006572	tyrosine catabolic proces s	IEA	biological_process
GO:0006749	glutathione metabolic pro cess	IDA	biological_process
GO:0008152	metabolic process	IEA	biological_process
GO:0009072	aromatic amino acid famil y metabolic process	IEA	biological_process
GO:0016034	maleylacetoacetate isomer ase activity	IEA	molecular_function
GO:0016034	maleylacetoacetate isomer ase activity	TAS	molecular_function
GO:0016034	maleylacetoacetate isomer ase activity	IDA	molecular_function
GO:0016034	maleylacetoacetate isomer ase activity	EXP	molecular_function
GO:0016740	transferase activity	IEA	molecular_function
GO:0016853	isomerase activity	IEA	molecular_function
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0098869	cellular oxidant detoxifi cation	IEA	biological_process
GO:1901687	glutathione derivative bi osynthetic process	TAS	biological_process
GO:0004364	glutathione transferase a ctivity	IDA	molecular_function
GO:0004364	glutathione transferase a ctivity	TAS	molecular_function
GO:0004364	glutathione transferase a ctivity	TAS	molecular_function
GO:0004602	glutathione peroxidase ac tivity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005739	mitochondrion	ISS	cellular_component
GO:0005739	mitochondrion	IBA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006559	L-phenylalanine catabolic process	TAS	biological_process
GO:0006559	L-phenylalanine catabolic process	TAS	biological_process
GO:0006749	glutathione metabolic pro cess	IDA	biological_process
GO:0016034	maleylacetoacetate isomer ase activity	TAS	molecular_function
GO:0016034	maleylacetoacetate isomer ase activity	IDA	molecular_function
GO:0016034	maleylacetoacetate isomer ase activity	EXP	molecular_function
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:1901687	glutathione derivative bi osynthetic process	TAS	biological_process

KEGG pathways

hsa01100 Metabolic pathways
hsa00350 Tyrosine metabolism

Diseases

Associated diseases	References
Ovarian endometriosis	PMID: 25298284
Cancer	PMID: 19692168
Chronic obstructive pulmonary disease (COPD)	PMID: 19625176
Keratosis	PMID: 12485442
Ovarian endometriosis	PMID: 25298284
Parkinson's disease	PMID: 15288444
Endometriosis-associated ovarian carcinoma, Ovarian endometrioid cancer (OEC) and ovarian clear cell cancer (OCCC)	INFBASE25298284
Ovarian endometriosis	INFBASE25298284
Sensation Disorders	PMID: 18776599

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
25298284	Ovarian en dometriosi s			30 EMS-associat ed ovarian carc inoma (18 Ovari an endometrioid cancer, 12 ova rian clear cell cancer)	Female infertility	RASSF2 RUNX3 GSTZ1 CYP2A GBGT1 NDUFS1 SPOCK2 ADAM22 and TRIM36	Show abstract