• Gene id: 2954

Gene Summary

• Gene Symbol: GSTZ1   Gene   UCSC   Ensembl
• Aliases: GSTZ1-1, MAAI, MAAID, 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 (77321001: 77331596)     Exons: 9     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 wit
• OMIM: 603758

SNPs

rs10841496

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.20368720C>A
NC_000012.11   g.20521654C>A
NG_030033.1   g.4476C>A
NM_000921.5   c.-565C>A
NM_001378408.1   c.-1593C>A
NM_001378407.1   c.-565C>A|SEQ=[C/A]|GENE=PDE3A

rs1727130

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.100213841C>A
NC_000007.14   g.100213841C>G
NC_000007.14   g.100213841C>T
NC_000007.13   g.99811464C>A
NC_000007.13   g.99811464C>G
NC_000007.13   g.99811464C>T
NG_034114.1   g.41118C>A
NG_034114.1   g.41118C>G
NG_034114.1   g.41118C>T|SEQ=[C/A/G/T]|GE

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: 24212
  • 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: (4..8-)
    (/note="GST-N-terminal)
    (92..21-)
    (/note="GST-C-terminal")
  • Interpro: IPR010987  IPR036282  IPR040079  IPR004045  IPR004046   IPR005955  IPR034330  IPR034333  IPR036249  
  • Prosite: PS50405 PS50404
  • CDD: cd03191 cd03042
  • PDB: 1FW1
  • PDBsum: 1FW1
  • STRING: ENSP00000216465
• Other Databases: GeneCards:  GSTZ1  Malacards:  GSTZ1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006559	L-phenylalanine catabolic process	IBA	biological process
GO:0016034	maleylacetoacetate isomerase activity	IBA	molecular function
GO:0006749	glutathione metabolic process	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0004364	glutathione transferase activity	IBA	molecular function
GO:0016034	maleylacetoacetate isomerase activity	IDA	molecular function
GO:0006749	glutathione metabolic process	IDA	biological process
GO:0004364	glutathione transferase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0009072	aromatic amino acid family metabolic process	IEA	biological process
GO:0006559	L-phenylalanine catabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0006572	tyrosine catabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016853	isomerase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0004364	glutathione transferase activity	TAS	molecular function
GO:0004602	glutathione peroxidase activity	TAS	molecular function
GO:0016034	maleylacetoacetate isomerase activity	TAS	molecular function
GO:0006559	L-phenylalanine catabolic process	TAS	biological process
GO:0004364	glutathione transferase activity	IEA	molecular function
GO:0016034	maleylacetoacetate isomerase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0010510	regulation of acetyl-CoA biosynthetic process from pyruvate	TAS	biological process
GO:1901687	glutathione derivative biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006559	L-phenylalanine catabolic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0098869	cellular oxidant detoxification	IEA	biological process
GO:0006559	L-phenylalanine catabolic process	IEA	biological process
GO:0005739	mitochondrion	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00350	Tyrosine metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq