UniProtKB - O43708 (MAAI_HUMAN)
Maleylacetoacetate isomerase
GSTZ1
Functioni
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.
1 PublicationCatalytic activityi
Cofactori
: L-phenylalanine degradation Pathwayi
This protein is involved in step 5 of the subpathway that synthesizes acetoacetate and fumarate from L-phenylalanine. This subpathway is part of the pathway L-phenylalanine degradation, which is itself part of Amino-acid degradation.View all proteins of this organism that are known to be involved in the subpathway that synthesizes acetoacetate and fumarate from L-phenylalanine, the pathway L-phenylalanine degradation and in Amino-acid degradation.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 45 | Glutathione1 Publication | 1 | |
Binding sitei | 59 | Glutathione; via amide nitrogen and carbonyl oxygen1 Publication | 1 | |
Binding sitei | 111 | Glutathione1 Publication | 1 |
GO - Molecular functioni
- glutathione peroxidase activity Source: ProtInc
- glutathione transferase activity Source: UniProtKB
- identical protein binding Source: IntAct
- maleylacetoacetate isomerase activity Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
GO - Biological processi
- glutathione metabolic process Source: UniProtKB
- L-phenylalanine catabolic process Source: GO_Central
- tyrosine catabolic process Source: UniProtKB-KW
Keywordsi
Molecular function | Isomerase, Multifunctional enzyme, Transferase |
Biological process | Phenylalanine catabolism, Tyrosine catabolism |
Enzyme and pathway databases
BRENDAi | 2.5.1.18, 2681 5.2.1.2, 2681 |
PathwayCommonsi | O43708 |
Reactomei | R-HSA-156590, Glutathione conjugation R-HSA-204174, Regulation of pyruvate dehydrogenase (PDH) complex R-HSA-8963684, Tyrosine catabolism |
SignaLinki | O43708 |
UniPathwayi | UPA00139;UER00340 |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:GSTZ1 Synonyms:MAAI |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4643, GSTZ1 |
MIMi | 603758, gene |
neXtProti | NX_O43708 |
VEuPathDBi | HostDB:ENSG00000100577 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm By similarity
Cytosol
- cytosol Source: Reactome
Mitochondrion
- mitochondrial matrix Source: Reactome
- mitochondrion Source: UniProtKB
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Maleylacetoacetate isomerase deficiency (MAAID)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079259 | 87 – 216 | Missing in MAAID. 1 PublicationAdd BLAST | 130 | |
Natural variantiVAR_079260 | 99 | V → M in MAAID; decreased maleylacetoacetate isomerase activity. 1 Publication | 1 | |
Natural variantiVAR_079261 | 150 | A → V in MAAID; decreased maleylacetoacetate isomerase activity. 1 Publication | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 2954 |
MalaCardsi | GSTZ1 |
MIMi | 617596, phenotype |
OpenTargetsi | ENSG00000100577 |
PharmGKBi | PA29031 |
Miscellaneous databases
Pharosi | O43708, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4949 |
DrugBanki | DB04447, 1,4-Dithiothreitol DB08809, Dichloroacetic acid DB00143, Glutathione DB09462, Glycerin |
Genetic variation databases
BioMutai | GSTZ1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000186022 | 1 – 216 | Maleylacetoacetate isomeraseAdd BLAST | 216 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources | 1 | |
Modified residuei | 32 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 57 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 136 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 177 | N6-succinyllysineBy similarity | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | O43708 |
jPOSTi | O43708 |
MassIVEi | O43708 |
MaxQBi | O43708 |
PaxDbi | O43708 |
PeptideAtlasi | O43708 |
PRIDEi | O43708 |
ProteomicsDBi | 49126 [O43708-1] 49127 [O43708-2] 976 |
PTM databases
iPTMneti | O43708 |
PhosphoSitePlusi | O43708 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000100577, Expressed in right lobe of liver and 222 other tissues |
ExpressionAtlasi | O43708, baseline and differential |
Genevisiblei | O43708, HS |
Organism-specific databases
HPAi | ENSG00000100577, Tissue enriched (liver) |
Interactioni
Subunit structurei
Homodimer.
1 PublicationBinary interactionsi
O43708
GO - Molecular functioni
- identical protein binding Source: IntAct
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 109209, 20 interactors |
IntActi | O43708, 16 interactors |
MINTi | O43708 |
STRINGi | 9606.ENSP00000216465 |
Miscellaneous databases
RNActi | O43708, protein |
Structurei
Secondary structure
3D structure databases
SMRi | O43708 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | O43708 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 4 – 87 | GST N-terminalAdd BLAST | 84 | |
Domaini | 92 – 212 | GST C-terminalAdd BLAST | 121 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 14 – 19 | Glutathione binding | 6 | |
Regioni | 71 – 72 | Glutathione binding | 2 | |
Regioni | 115 – 117 | Glutathione binding | 3 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG0868, Eukaryota |
GeneTreei | ENSGT00390000006580 |
HOGENOMi | CLU_011226_20_3_1 |
InParanoidi | O43708 |
PhylomeDBi | O43708 |
TreeFami | TF105324 |
Family and domain databases
CDDi | cd03191, GST_C_Zeta, 1 hit cd03042, GST_N_Zeta, 1 hit |
InterProi | View protein in InterPro IPR010987, Glutathione-S-Trfase_C-like IPR036282, Glutathione-S-Trfase_C_sf IPR040079, Glutathione_S-Trfase IPR004045, Glutathione_S-Trfase_N IPR004046, GST_C IPR005955, GST_Zeta IPR034330, GST_Zeta_C IPR034333, GST_Zeta_N IPR036249, Thioredoxin-like_sf |
Pfami | View protein in Pfam PF14497, GST_C_3, 1 hit PF13417, GST_N_3, 1 hit |
SFLDi | SFLDS00019, Glutathione_Transferase_(cytos, 1 hit |
SUPFAMi | SSF47616, SSF47616, 1 hit SSF52833, SSF52833, 1 hit |
TIGRFAMsi | TIGR01262, maiA, 1 hit |
PROSITEi | View protein in PROSITE PS50405, GST_CTER, 1 hit PS50404, GST_NTER, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MQAGKPILYS YFRSSCSWRV RIALALKGID YKTVPINLIK DRGQQFSKDF
60 70 80 90 100
QALNPMKQVP TLKIDGITIH QSLAIIEYLE EMRPTPRLLP QDPKKRASVR
110 120 130 140 150
MISDLIAGGI QPLQNLSVLK QVGEEMQLTW AQNAITCGFN ALEQILQSTA
160 170 180 190 200
GIYCVGDEVT MADLCLVPQV ANAERFKVDL TPYPTISSIN KRLLVLEAFQ
210
VSHPCRQPDT PTELRA
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0C4DFM0 | A0A0C4DFM0_HUMAN | Maleylacetoacetate isomerase | GSTZ1 hCG_22265 | 216 | Annotation score: | ||
G3V4T6 | G3V4T6_HUMAN | Maleylacetoacetate isomerase | GSTZ1 | 217 | Annotation score: | ||
G3V267 | G3V267_HUMAN | Maleylacetoacetate isomerase | GSTZ1 | 189 | Annotation score: | ||
G3V5T0 | G3V5T0_HUMAN | Maleylacetoacetate isomerase | GSTZ1 | 202 | Annotation score: | ||
A0A0A0MR33 | A0A0A0MR33_HUMAN | Maleylacetoacetate isomerase | GSTZ1 | 174 | Annotation score: | ||
G3V5G8 | G3V5G8_HUMAN | Maleylacetoacetate isomerase | GSTZ1 | 38 | Annotation score: | ||
G3V3B9 | G3V3B9_HUMAN | Maleylacetoacetate isomerase | GSTZ1 | 119 | Annotation score: | ||
G3V5U6 | G3V5U6_HUMAN | Maleylacetoacetate isomerase | GSTZ1 | 59 | Annotation score: | ||
H0YJN8 | H0YJN8_HUMAN | Maleylacetoacetate isomerase | GSTZ1 | 70 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_009705 | 32 | K → E in allele GSTZ1*C. 6 PublicationsCorresponds to variant dbSNP:rs7975Ensembl. | 1 | |
Natural variantiVAR_009706 | 42 | R → G in allele GSTZ1*B and allele GSTZ1*C. 9 PublicationsCorresponds to variant dbSNP:rs7972Ensembl. | 1 | |
Natural variantiVAR_009707 | 82 | M → T7 PublicationsCorresponds to variant dbSNP:rs1046428Ensembl. | 1 | |
Natural variantiVAR_079259 | 87 – 216 | Missing in MAAID. 1 PublicationAdd BLAST | 130 | |
Natural variantiVAR_079260 | 99 | V → M in MAAID; decreased maleylacetoacetate isomerase activity. 1 Publication | 1 | |
Natural variantiVAR_014505 | 133 | N → H1 PublicationCorresponds to variant dbSNP:rs2234955Ensembl. | 1 | |
Natural variantiVAR_079261 | 150 | A → V in MAAID; decreased maleylacetoacetate isomerase activity. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_039862 | 1 – 55 | Missing in isoform 2. 1 PublicationAdd BLAST | 55 | |
Alternative sequenceiVSP_047392 | 73 – 114 | Missing in isoform 3. CuratedAdd BLAST | 42 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ001838 mRNA Translation: CAA05045.1 U86529 mRNA Translation: AAB96392.1 AF053545 , AF053539, AF053540, AF053541, AF053542, AF053543, AF053544 Genomic DNA Translation: AAC33591.1 AF098318 , AF095582, AF098311, AF098312, AF098313, AF098314, AF098315, AF098316, AF098317 Genomic DNA Translation: AAD43007.1 AK315154 mRNA Translation: BAG37600.1 CR456987 mRNA Translation: CAG33268.1 AY316305 Genomic DNA Translation: AAP69526.1 AC007954 Genomic DNA Translation: AAF62559.1 CH471061 Genomic DNA Translation: EAW81278.1 CH471061 Genomic DNA Translation: EAW81279.1 BC001453 mRNA Translation: AAH01453.1 |
CCDSi | CCDS9858.1 [O43708-1] CCDS9859.1 [O43708-3] CCDS9860.1 [O43708-2] |
RefSeqi | NP_001299589.1, NM_001312660.1 [O43708-2] NP_665877.1, NM_145870.2 NP_665878.2, NM_145871.2 |
Genome annotation databases
Ensembli | ENST00000361389; ENSP00000354959; ENSG00000100577 [O43708-2] ENST00000393734; ENSP00000377335; ENSG00000100577 [O43708-2] ENST00000557639; ENSP00000451927; ENSG00000100577 [O43708-2] |
GeneIDi | 2954 |
KEGGi | hsa:2954 |
UCSCi | uc001xtj.4, human [O43708-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
NIEHS-SNPs |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ001838 mRNA Translation: CAA05045.1 U86529 mRNA Translation: AAB96392.1 AF053545 , AF053539, AF053540, AF053541, AF053542, AF053543, AF053544 Genomic DNA Translation: AAC33591.1 AF098318 , AF095582, AF098311, AF098312, AF098313, AF098314, AF098315, AF098316, AF098317 Genomic DNA Translation: AAD43007.1 AK315154 mRNA Translation: BAG37600.1 CR456987 mRNA Translation: CAG33268.1 AY316305 Genomic DNA Translation: AAP69526.1 AC007954 Genomic DNA Translation: AAF62559.1 CH471061 Genomic DNA Translation: EAW81278.1 CH471061 Genomic DNA Translation: EAW81279.1 BC001453 mRNA Translation: AAH01453.1 |
CCDSi | CCDS9858.1 [O43708-1] CCDS9859.1 [O43708-3] CCDS9860.1 [O43708-2] |
RefSeqi | NP_001299589.1, NM_001312660.1 [O43708-2] NP_665877.1, NM_145870.2 NP_665878.2, NM_145871.2 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1FW1 | X-ray | 1.90 | A | 1-216 | [»] | |
SMRi | O43708 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 109209, 20 interactors |
IntActi | O43708, 16 interactors |
MINTi | O43708 |
STRINGi | 9606.ENSP00000216465 |
Chemistry databases
ChEMBLi | CHEMBL4949 |
DrugBanki | DB04447, 1,4-Dithiothreitol DB08809, Dichloroacetic acid DB00143, Glutathione DB09462, Glycerin |
PTM databases
iPTMneti | O43708 |
PhosphoSitePlusi | O43708 |
Genetic variation databases
BioMutai | GSTZ1 |
Proteomic databases
EPDi | O43708 |
jPOSTi | O43708 |
MassIVEi | O43708 |
MaxQBi | O43708 |
PaxDbi | O43708 |
PeptideAtlasi | O43708 |
PRIDEi | O43708 |
ProteomicsDBi | 49126 [O43708-1] 49127 [O43708-2] 976 |
Protocols and materials databases
Antibodypediai | 188, 237 antibodies from 29 providers |
DNASUi | 2954 |
Genome annotation databases
Ensembli | ENST00000361389; ENSP00000354959; ENSG00000100577 [O43708-2] ENST00000393734; ENSP00000377335; ENSG00000100577 [O43708-2] ENST00000557639; ENSP00000451927; ENSG00000100577 [O43708-2] |
GeneIDi | 2954 |
KEGGi | hsa:2954 |
UCSCi | uc001xtj.4, human [O43708-1] |
Organism-specific databases
CTDi | 2954 |
DisGeNETi | 2954 |
GeneCardsi | GSTZ1 |
HGNCi | HGNC:4643, GSTZ1 |
HPAi | ENSG00000100577, Tissue enriched (liver) |
MalaCardsi | GSTZ1 |
MIMi | 603758, gene 617596, phenotype |
neXtProti | NX_O43708 |
OpenTargetsi | ENSG00000100577 |
PharmGKBi | PA29031 |
VEuPathDBi | HostDB:ENSG00000100577 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0868, Eukaryota |
GeneTreei | ENSGT00390000006580 |
HOGENOMi | CLU_011226_20_3_1 |
InParanoidi | O43708 |
PhylomeDBi | O43708 |
TreeFami | TF105324 |
Enzyme and pathway databases
UniPathwayi | UPA00139;UER00340 |
BRENDAi | 2.5.1.18, 2681 5.2.1.2, 2681 |
PathwayCommonsi | O43708 |
Reactomei | R-HSA-156590, Glutathione conjugation R-HSA-204174, Regulation of pyruvate dehydrogenase (PDH) complex R-HSA-8963684, Tyrosine catabolism |
SignaLinki | O43708 |
Miscellaneous databases
BioGRID-ORCSi | 2954, 9 hits in 1050 CRISPR screens |
ChiTaRSi | GSTZ1, human |
EvolutionaryTracei | O43708 |
GeneWikii | GSTZ1 |
GenomeRNAii | 2954 |
Pharosi | O43708, Tbio |
PROi | PR:O43708 |
RNActi | O43708, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000100577, Expressed in right lobe of liver and 222 other tissues |
ExpressionAtlasi | O43708, baseline and differential |
Genevisiblei | O43708, HS |
Family and domain databases
CDDi | cd03191, GST_C_Zeta, 1 hit cd03042, GST_N_Zeta, 1 hit |
InterProi | View protein in InterPro IPR010987, Glutathione-S-Trfase_C-like IPR036282, Glutathione-S-Trfase_C_sf IPR040079, Glutathione_S-Trfase IPR004045, Glutathione_S-Trfase_N IPR004046, GST_C IPR005955, GST_Zeta IPR034330, GST_Zeta_C IPR034333, GST_Zeta_N IPR036249, Thioredoxin-like_sf |
Pfami | View protein in Pfam PF14497, GST_C_3, 1 hit PF13417, GST_N_3, 1 hit |
SFLDi | SFLDS00019, Glutathione_Transferase_(cytos, 1 hit |
SUPFAMi | SSF47616, SSF47616, 1 hit SSF52833, SSF52833, 1 hit |
TIGRFAMsi | TIGR01262, maiA, 1 hit |
PROSITEi | View protein in PROSITE PS50405, GST_CTER, 1 hit PS50404, GST_NTER, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | MAAI_HUMAN | |
Accessioni | O43708Primary (citable) accession number: O43708 Secondary accession number(s): A6NED0 Q9BV63 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 15, 1998 |
Last sequence update: | November 24, 2009 | |
Last modified: | February 23, 2022 | |
This is version 215 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families