MPST (Mercaptopyruvate Sulfurtransferase) Gene
A comprehensive biomedical resource on MPST gene, including genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | MPST |
|---|---|
| Full Name | Mercaptopyruvate sulfurtransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 22q12.3 |
| NCBI Gene ID | 4357 ncbi.nlm.nih.gov/gene/4357 |
| Ensembl ID | ENSG00000100234 |
| UniProt ID | P25325 |
| OMIM ID | 604446 |
| HGNC ID | 7224 |
| Aliases | MST, TST2, 3-mercaptopyruvate sulfurtransferase |
Description
The MPST gene encodes mercaptopyruvate sulfurtransferase, a mitochondrial enzyme involved in sulfur metabolism. It catalyzes the transfer of sulfur from 3-mercaptopyruvate to cyanide or other thiol compounds, producing pyruvate and thiocyanate or persulfide. This enzyme plays a key role in hydrogen sulfide (H2S) biosynthesis and detoxification of cyanide. MPST is expressed in various tissues, with highest levels in liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mercaptolactate-cysteine disulfiduria | Deficiency in MPST leads to accumulation of mercaptolactate-cysteine disulfide in urine. | OMIM #604446 |
| Cyanide poisoning | MPST detoxifies cyanide by converting it to thiocyanate; reduced activity may increase susceptibility. | NCBI Gene, UniProt |
| Sulfite oxidase deficiency (indirect) | Altered sulfur metabolism via MPST may contribute to secondary effects. | OMIM #272300 (related pathway) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 10.8 | High |
| Heart | 6.2 | Medium |
| Brain | 4.1 | Medium |
| Lung | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Liver cancer cell line |
| HEK293 | 8.7 | Embryonic kidney cells |
| A549 | 5.1 | Lung carcinoma cells |
| SH-SY5Y | 3.9 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of function; start codon loss |
| c.374C>T (p.Thr125Met) | Missense | 0.02% | Reduced enzyme activity in vitro |
| c.586G>A (p.Gly196Arg) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Met1? are predicted to abolish protein translation, leading to complete loss of enzyme activity.
Gain of Function (GOF)
No gain-of-function mutations reported for MPST.
Dominant Negative (DN)
No dominant-negative mutations reported for MPST.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hydrogen sulfide biosynthesis (Reactome: R-HSA-1614558)
• Cyanide detoxification (KEGG: map00980)
• Sulfur metabolism (KEGG: map00920)
Protein Summary
Mercaptopyruvate sulfurtransferase (MPST) is a 297-amino acid mitochondrial enzyme (UniProt P25325) that catalyzes the transfer of sulfur from 3-mercaptopyruvate to thiol acceptors, producing pyruvate and persulfide. It is a key enzyme in the transsulfuration pathway and contributes to hydrogen sulfide (H2S) production, which acts as a signaling molecule. The protein forms homodimers and is highly expressed in liver and kidney. Structural studies show a conserved catalytic cysteine residue (Cys248) essential for activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MPST Knockout HEK293 Cell Line | EDJ-KQ2328 | Human | 4357 | Details Get a Quote |
| ZMPSTE24 Knockout HEK293 Cell Line | EDJ-KQ6983 | Human | 10269 | Details Get a Quote |
| MPST Knockout A-549 Cell Line | EDJ-KQ22722 | Human | 4357 | Details Get a Quote |
| MPST Knockout HCT 116 Cell Line | EDJ-KQ22723 | Human | 4357 | Details Get a Quote |
| MPST Knockout HeLa Cell Line | EDJ-KQ22724 | Human | 4357 | Details Get a Quote |
| ZMPSTE24 Knockout A-549 Cell Line | EDJ-KQ31688 | Human | 10269 | Details Get a Quote |
| ZMPSTE24 Knockout HCT 116 Cell Line | EDJ-KQ31689 | Human | 10269 | Details Get a Quote |
| ZMPSTE24 Knockout HeLa Cell Line | EDJ-KQ31690 | Human | 10269 | Details Get a Quote |
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