GSTZ1 (glutathione S-transferase zeta 1)

Gene

• Entrez ID: 2954
• Gene name: Glutathione S-transferase zeta 1
• Gene symbol: GSTZ1
• Synonyms: GSTZ1-1, MAAI, MAAID, MAI
• 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 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT735300	hsa-miR-376c-3p	Luciferase reporter assay, Microarray, qRT-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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004364	Function	Glutathione transferase activity	IBA	21873635
GO:0004364	Function	Glutathione transferase activity	IDA	10739172
GO:0004602	Function	Glutathione peroxidase activity	TAS	9396740
GO:0005515	Function	Protein binding	IPI	17474147, 32296183
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	ISS
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006559	Process	L-phenylalanine catabolic process	IBA	21873635
GO:0006559	Process	L-phenylalanine catabolic process	IEA
GO:0006559	Process	L-phenylalanine catabolic process	TAS
GO:0006572	Process	Tyrosine catabolic process	IEA
GO:0006749	Process	Glutathione metabolic process	IBA	21873635
GO:0006749	Process	Glutathione metabolic process	IDA	10739172
GO:0010510	Process	Regulation of acetyl-CoA biosynthetic process from pyruvate	TAS
GO:0016034	Function	Maleylacetoacetate isomerase activity	IBA	21873635
GO:0016034	Function	Maleylacetoacetate isomerase activity	IDA	10739172
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:1901687	Process	Glutathione derivative biosynthetic process	TAS

Other IDs

• MIM: 603758
• HGNC: 4643
• e!Ensembl: ENSG00000100577

Protein

• UniProt ID: 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

• Sequence:

  MQAGKPILYSYFRSSCSWRVRIALALKGIDYKTVPINLIKDRGQQFSKDFQALNPMKQVP
  TLKIDGITIHQSLAIIEYLEEMRPTPRLLPQDPKKRASVRMISDLIAGGIQPLQNLSVLK
  QVGEEMQLTWAQNAITCGFNALEQILQSTAGIYCVGDEVTMADLCLVPQVANAERFKVDL
  TPYPTISSINKRLLVLEAFQVSHPCRQPDTPTELRA

• Sequence length: 216

Pathways

KEGG:

Tyrosine metabolism
Metabolic pathways

Reactome:

Glutathione conjugation
Regulation of pyruvate dehydrogenase (PDH) complex
Tyrosine catabolism

Associated diseases

Unknown
Disease name	Disease term	dbSNP ID	References
Bipolar disorder	Bipolar Disorder		22374552
Urinary bladder cancer	Malignant neoplasm of urinary bladder		22306368
Bladder neoplasm	Bladder Neoplasm		22306368
Deficiency of maleylacetoacetate isomerase	Deficiency of maleylacetoacetate isomerase		9417084, 12052898, 27876694
Vestibular diseases	Vestibular Diseases		18776599