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Aliases for GSTZ1 Gene

Aliases for GSTZ1 Gene

  • Glutathione S-Transferase Zeta 1 2 3 4 5
  • Glutathione Transferase Zeta 1 2 3
  • Maleylacetoacetate Isomerase 2 3
  • GSTZ1-1 3 4
  • MAAI 3 4
  • S-(Hydroxyalkyl)Glutathione Lyase 3
  • Glutathione S-Aralkyltransferase 3
  • Glutathione S-Alkyltransferase 3
  • Glutathione S-Aryltransferase 3
  • Maleylacetone Isomerase 3
  • EC 4
  • EC 4
  • MAAID 3
  • MAI 3

External Ids for GSTZ1 Gene

Previous GeneCards Identifiers for GSTZ1 Gene

  • GC14P075293
  • GC14P071604
  • GC14P075777
  • GC14P076857
  • GC14P077787
  • GC14P057953

Summaries for GSTZ1 Gene

Entrez Gene Summary for GSTZ1 Gene

  • 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]

GeneCards Summary for GSTZ1 Gene

GSTZ1 (Glutathione S-Transferase Zeta 1) is a Protein Coding gene. Diseases associated with GSTZ1 include Maleylacetoacetate Isomerase Deficiency and Tyrosinemia, Type I. Among its related pathways are Phenylalanine metabolism and Glutathione metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and glutathione peroxidase activity.

UniProtKB/Swiss-Prot for GSTZ1 Gene

  • Bifunctional enzyme showing minimal glutathione-conjugating activity with ethacrynic acid and 7-chloro-4-nitrobenz-2-oxa-1,3-diazole and maleylacetoacetate isomerase activity. Has also low glutathione peroxidase activity with T-butyl and cumene hydroperoxides. Is able to catalyze the glutathione dependent oxygenation of dichloroacetic acid to glyoxylic acid.

Gene Wiki entry for GSTZ1 Gene

Additional gene information for GSTZ1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GSTZ1 Gene

Genomics for GSTZ1 Gene

GeneHancer (GH) Regulatory Elements for GSTZ1 Gene

Promoters and enhancers for GSTZ1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I077319 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 568 +0.2 191 3.4 HDGF PKNOX1 ARID4B SIN3A ZBTB7B YY1 POLR2B ZNF766 ZNF207 ZNF143 GSTZ1 POMT2 PIR54443 TMEM63C PIR37736
GH14I077312 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 17.6 -5.4 -5413 5.7 PKNOX1 CLOCK FOXA2 ARID4B SIN3A ZNF2 ZNF143 FOS YY2 REST TMED8 GSTZ1 NGB ZDHHC22 ENSG00000201384 SAMD15 AHSA1 VIPAS39 TMEM63C POMT2
GH14I077299 Enhancer 0.9 ENCODE dbSUPER 24.5 -20.3 -20254 2.4 CTCF FOXA2 NFIB ARID4B SIN3A RAD21 ARID2 ZNF143 SMC3 NR2F6 GSTZ1 POMT2 NGB MIR1260A ZDHHC22 ENSG00000201384 VIPAS39 AHSA1 CIPC PIR44060
GH14I077301 Enhancer 1.4 Ensembl ENCODE dbSUPER 15.6 -15.8 -15801 6.5 PKNOX1 ATF1 FOXA2 ARID4B SIN3A FEZF1 ZNF2 ZNF207 ATF7 FOS VIPAS39 IRF2BPL GSTZ1 ALKBH1 NGB MIR1260A ZDHHC22 ENSG00000201384 SAMD15 TMED8
GH14I077371 Enhancer 1 Ensembl ENCODE 21.2 +52.0 52041 3.3 PKNOX1 FOXA2 INSM2 NEUROD1 KLF5 ZNF366 ATF7 FOS RCOR1 IKZF2 TMED8 POMT2 GSTZ1 ENSG00000259081 AHSA1 VIPAS39 SAMD15 LOC100422225
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GSTZ1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GSTZ1 gene promoter:

Genomic Locations for GSTZ1 Gene

Genomic Locations for GSTZ1 Gene
10,714 bases
Plus strand

Genomic View for GSTZ1 Gene

Genes around GSTZ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GSTZ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GSTZ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GSTZ1 Gene

Proteins for GSTZ1 Gene

  • Protein details for GSTZ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Maleylacetoacetate isomerase
    Protein Accession:
    Secondary Accessions:
    • A6NED0
    • A6NNB8
    • A8MWD7
    • B2RCK3
    • O15308
    • O75430
    • Q6IB17
    • Q7Z610
    • Q9BV63

    Protein attributes for GSTZ1 Gene

    216 amino acids
    Molecular mass:
    24212 Da
    Name=glutathione; Xref=ChEBI:CHEBI:57925;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for GSTZ1 Gene

    Alternative splice isoforms for GSTZ1 Gene


neXtProt entry for GSTZ1 Gene

Post-translational modifications for GSTZ1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GSTZ1 Gene

Domains & Families for GSTZ1 Gene

Gene Families for GSTZ1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GSTZ1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the GST superfamily. Zeta family.
  • Belongs to the GST superfamily. Zeta family.
genes like me logo Genes that share domains with GSTZ1: view

Function for GSTZ1 Gene

Molecular function for GSTZ1 Gene

GENATLAS Biochemistry:
glutathione-S-transferase,zeta class dimer of 24kDa,possessing glutathione peroxydase activity toward t-butyl and cumene hyperoxydes,also possessing maleylacetoacetate isomerase activity,last enzyme from the phenylalanine and tyrosine catabolic pathway,fundamental to the catabolism of aromatic AAs,ubiquitously expressed,unproved to be responsible and likely to be an uncommon cause of pseudotyrosinemia
UniProtKB/Swiss-Prot CatalyticActivity:
4-maleylacetoacetate = 4-fumarylacetoacetate.
UniProtKB/Swiss-Prot CatalyticActivity:
RX + glutathione = HX + R-S-glutathione.
UniProtKB/Swiss-Prot 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. Has also low glutathione peroxidase activity with T-butyl and cumene hydroperoxides. Is able to catalyze the glutathione dependent oxygenation of dichloroacetic acid to glyoxylic acid.

Enzyme Numbers (IUBMB) for GSTZ1 Gene

Phenotypes From GWAS Catalog for GSTZ1 Gene

Gene Ontology (GO) - Molecular Function for GSTZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004364 glutathione transferase activity TAS --
GO:0004602 glutathione peroxidase activity TAS 9396740
GO:0005515 protein binding IPI 17474147
GO:0016034 maleylacetoacetate isomerase activity EXP,IDA 10739172
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with GSTZ1: view
genes like me logo Genes that share phenotypes with GSTZ1: view

Animal Models for GSTZ1 Gene

MGI Knock Outs for GSTZ1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for GSTZ1 Gene

Localization for GSTZ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GSTZ1 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GSTZ1 gene
Compartment Confidence
mitochondrion 5
cytosol 5
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GSTZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion ISS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with GSTZ1: view

Pathways & Interactions for GSTZ1 Gene

genes like me logo Genes that share pathways with GSTZ1: view

UniProtKB/Swiss-Prot O43708-MAAI_HUMAN

  • Pathway: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 5/6.

Gene Ontology (GO) - Biological Process for GSTZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006559 L-phenylalanine catabolic process TAS --
GO:0006572 tyrosine catabolic process IEA --
GO:0006749 glutathione metabolic process IDA 10739172
GO:0008152 metabolic process IEA --
GO:0009072 aromatic amino acid family metabolic process IEA --
genes like me logo Genes that share ontologies with GSTZ1: view

No data available for SIGNOR curated interactions for GSTZ1 Gene

Drugs & Compounds for GSTZ1 Gene

(6) Drugs for GSTZ1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutathione Approved, Investigational Nutra Target 0
Dichloroacetic Acid Approved, Investigational Pharma Target 0
Water Approved Pharma 0
1,4-Dithiothreitol Experimental Pharma Target 0

(12) Additional Compounds for GSTZ1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-Fumarylacetoacetic acid
  • (E)-4,6-dioxo-2-Octenedioate
  • (E)-4,6-dioxo-2-Octenedioic acid
  • 4-Fumaryl-acetoacetate
  • 4-Fumarylacetoacetate
  • Fumarylacetoacetate
Hydrochloric acid
  • Anhydrous Hydrochloric acid
  • Aqueous hydrogen chloride
  • Chlorane
  • Chlorohydric acid
  • HCL]
Maleylacetoacetic acid
  • 4-Maleylacetoacetate
  • 4-Maleylacetoacetic acid
  • Maleylacetoacetate
  • Sulfate (ion 2-)
  • Sulfate anion
  • Sulfate anion(2-)
  • Sulfate dianion
  • Sulfate ion
genes like me logo Genes that share compounds with GSTZ1: view

Transcripts for GSTZ1 Gene

Unigene Clusters for GSTZ1 Gene

Glutathione S-transferase zeta 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for GSTZ1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^
SP1: - - - - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - - - - - - -
SP4: - - - - - - - - - - - - -
SP5: - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - -
SP7: - - - - - - - - - -
SP8: - - - - -
SP9: - - -
SP10: - - - - -
SP11: - -
SP12: - - - - - - -
SP13: - - - - -
SP14: - - - -
SP15: - - - - - -
SP17: - - - - -

ExUns: 11a · 11b ^ 12a · 12b · 12c · 12d · 12e · 12f
SP1: -
SP2: -
SP3: -
SP4: -
SP5: -
SP6: -
SP9: -

Relevant External Links for GSTZ1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GSTZ1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GSTZ1 Gene

mRNA differential expression in normal tissues according to GTEx for GSTZ1 Gene

This gene is overexpressed in Liver (x8.0).

Protein differential expression in normal tissues from HIPED for GSTZ1 Gene

This gene is overexpressed in Liver, secretome (22.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GSTZ1 Gene

Protein tissue co-expression partners for GSTZ1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GSTZ1 Gene:


SOURCE GeneReport for Unigene cluster for GSTZ1 Gene:


mRNA Expression by UniProt/SwissProt for GSTZ1 Gene:

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.

Evidence on tissue expression from TISSUES for GSTZ1 Gene

  • Muscle(4.2)
  • Liver(2.9)
  • Nervous system(2.7)
  • Lung(2)
genes like me logo Genes that share expression patterns with GSTZ1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for GSTZ1 Gene

Orthologs for GSTZ1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GSTZ1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GSTZ1 33 34
  • 99.23 (n)
(Bos Taurus)
Mammalia GSTZ1 33 34
  • 86.98 (n)
(Canis familiaris)
Mammalia GSTZ1 33 34
  • 85.89 (n)
(Rattus norvegicus)
Mammalia Gstz1 33
  • 84.96 (n)
(Mus musculus)
Mammalia Gstz1 33 16 34
  • 84.34 (n)
(Ornithorhynchus anatinus)
Mammalia GSTZ1 34
  • 80 (a)
(Monodelphis domestica)
Mammalia GSTZ1 34
  • 76 (a)
(Gallus gallus)
Aves GSTZ1 33 34
  • 71.47 (n)
(Anolis carolinensis)
Reptilia GSTZ1 34
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gstz1 33
  • 67.61 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4751 33
(Danio rerio)
Actinopterygii gstz1 33 34
  • 66.82 (n)
Dr.29645 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3447 33
fruit fly
(Drosophila melanogaster)
Insecta GstZ1 33
  • 60.53 (n)
CG9363 35
  • 59 (a)
CG9362 35 34
  • 58 (a)
(Caenorhabditis elegans)
Secernentea gst-42 33 34
  • 52.52 (n)
Y53G8B.1 35 34
  • 47 (a)
gst-43 34
  • 46 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons GSTZ1 33
  • 51.07 (n)
(Oryza sativa)
Liliopsida Os02g0564000 33
  • 49.59 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2295 34
  • 50 (a)
Species where no ortholog for GSTZ1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GSTZ1 Gene

Gene Tree for GSTZ1 (if available)
Gene Tree for GSTZ1 (if available)

Paralogs for GSTZ1 Gene

No data available for Paralogs for GSTZ1 Gene

Variants for GSTZ1 Gene

Sequence variations from dbSNP and Humsavar for GSTZ1 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1050007707 uncertain-significance, Limb-Girdle Muscular Dystrophy, Recessive 77,320,823(+) G/A upstream_transcript_variant
rs116224770 likely-benign, Limb-Girdle Muscular Dystrophy, Recessive 77,320,809(+) G/A upstream_transcript_variant
rs140540096 affects, MALEYLACETOACETATE ISOMERASE DEFICIENCY 77,327,990(+) G/A coding_sequence_variant, intron_variant, missense_variant
rs147337187 likely-benign, Limb-Girdle Muscular Dystrophy, Recessive 77,320,805(+) C/T upstream_transcript_variant
rs151103906 uncertain-significance, not specified, Limb-Girdle Muscular Dystrophy, Recessive 77,320,450(+) C/A/G upstream_transcript_variant

Variation tolerance for GSTZ1 Gene

Residual Variation Intolerance Score: 79.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.86; 93.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GSTZ1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GSTZ1 Gene

Disorders for GSTZ1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GSTZ1 Gene - From: HGMD, OMIM, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
maleylacetoacetate isomerase deficiency
  • maaid
tyrosinemia, type i
  • tyrsn1
  • hereditary tyrosinemia
- elite association - COSMIC cancer census association via MalaCards
Search GSTZ1 in MalaCards View complete list of genes associated with diseases


  • Maleylacetoacetate isomerase deficiency (MAAID) [MIM:617596]: An autosomal recessive inborn error of metabolism characterized by mild elevations in succinylacetone in blood and urine, usually identified by newborn screening. Liver function and coagulation are normal. MAAID is a benign disorder. {ECO:0000269 PubMed:27876694}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GSTZ1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GSTZ1: view

No data available for Genatlas for GSTZ1 Gene

Publications for GSTZ1 Gene

  1. Characterization of a fungal maleylacetoacetate isomerase gene and identification of its human homologue. (PMID: 9417084) Fernández-Cañón JM … Peñalva MA (The Journal of biological chemistry 1998) 2 3 4 22 58
  2. Zeta, a novel class of glutathione transferases in a range of species from plants to humans. (PMID: 9396740) Board PG … Jermiin LS (The Biochemical journal 1997) 2 3 4 22 58
  3. No evidence for glutathione S-transferases GSTA2, GSTM2, GSTO1, GSTO2, and GSTZ1 in breast cancer risk. (PMID: 19859803) Andonova IE … Brauch H (Breast cancer research and treatment 2010) 3 22 44 58
  4. Crystal structure of maleylacetoacetate isomerase/glutathione transferase zeta reveals the molecular basis for its remarkable catalytic promiscuity. (PMID: 11327815) Polekhina G … Parker MW (Biochemistry 2001) 3 4 22 58
  5. Investigation of glutathione S-transferase zeta and the development of sporadic breast cancer. (PMID: 11737895) Smith RA … Griffiths LR (Breast cancer research : BCR 2001) 3 22 44 58

Products for GSTZ1 Gene

Sources for GSTZ1 Gene

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