GSTZ1
Maleylacetoacetate isomerase
Also known as: GSTZ1-1, MAAI, MAAI_HUMAN, MAI
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O43708
- Gene
- GSTZ1
- Ensembl
- ENSG00000100577
- Chromosome
- 14
- Canonical length
- 216 aa
- Protein class
- Disease related genes, Enzymes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
216 residues, UniProt reviewed canonical sequence.
>O43708|GSTZ1
1 MQAGKPILYS YFRSSCSWRV RIALALKGID YKTVPINLIK DRGQQFSKDF QALNPMKQVP
61 TLKIDGITIH QSLAIIEYLE EMRPTPRLLP QDPKKRASVR MISDLIAGGI QPLQNLSVLK
121 QVGEEMQLTW AQNAITCGFN ALEQILQSTA GIYCVGDEVT MADLCLVPQV ANAERFKVDL
181 TPYPTISSIN KRLLVLEAFQ VSHPCRQPDT PTELRALocalizationUniProt · AlphaFold · HPA
Whether an antibody against GSTZ1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.27
- Highest tissue expression
- 246 nTPM
Expression across tissuesHPA
Tissue
- liver: 246 nTPM
- testis: 56 nTPM
- skeletal muscle: 44 nTPM
- tongue: 35 nTPM
- adrenal gland: 32 nTPM
- choroid plexus: 26 nTPM
Single-cell type
- late spermatids: 674 nCPM
- hepatocytes: 483 nCPM
- late primary spermatocytes: 149 nCPM
- early spermatids: 119 nCPM
- cytotrophoblasts: 112 nCPM
- esophageal suprabasal cells: 90 nCPM
Immune cell
- intermediate monocyte: 22 nTPM
- myeloid DC: 21 nTPM
- non-classical monocyte: 20 nTPM
- classical monocyte: 16 nTPM
- plasmacytoid DC: 15 nTPM
- basophil: 13 nTPM
Brain region
- white matter: 18 nTPM
- cerebellum: 16 nTPM
- medulla oblongata: 16 nTPM
- pons: 15 nTPM
- hypothalamus: 15 nTPM
- spinal cord: 15 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GSTZ1.
Disease | AllUniProt
Conditions GSTZ1 is implicated in, by any mechanism.
- Maleylacetoacetate isomerase deficiency (MAAID) MIM:617596
Disease | GeneticClinVar
5 pathogenic / likely-pathogenic of 59 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Maleylacetoacetate isomerase deficiency
- GSTZ1-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.48
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.01
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular detoxification
- glutathione metabolic process
- L-phenylalanine catabolic process
- L-tyrosine catabolic process
Molecular functions
- glutathione peroxidase activity
- glutathione transferase activity
- identical protein binding
- protein homodimerization activity
- maleylacetoacetate isomerase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Glutathione S-transferase, N-terminal
- Glutathione S-transferase, C-terminal
- Glutathione S-transferase, C-terminal-like
- Thioredoxin-like superfamily
- Glutathione S-transferase, C-terminal domain superfamily
- Glutathione transferase family
- Glutathione S-transferase, N-terminal domain
- Glutathione S-transferase, C-terminal domain
- Glutathione S-transferases, class Zeta
- Glutathione S-transferases, class Zeta , C-terminal
- Glutathione S-transferases, class Zeta , N-terminal
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GSTZ1 as an antibody target. Whether an autoantibody or antibody against GSTZ1 could matter depends on whether native GSTZ1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GSTZ1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label GSTZ1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...