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MPST Gene

protein-coding   GIFtS: 62
GCID: GC22P037415

Mercaptopyruvate Sulfurtransferase

  See MPST-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Mercaptopyruvate Sulfurtransferase1 2
Human Liver Rhodanese1 2
MST2 3
TST22 3
3-Mercaptopyruvate Sulfurtransferase2
EC 2.8.1.23

External Ids:    HGNC: 72231   Entrez Gene: 43572   Ensembl: ENSG000001283097   OMIM: 6024965   UniProtKB: P253253   

Export aliases for MPST gene to outside databases

Previous GC identifers: GC22P034030 GC22P035658 GC22P035740 GC22P020380


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MPST Gene:
This protein encoded by this gene catalyzes the transfer of a sulfur ion from 3-mercaptopyruvate to cyanide or
other thiol compounds. It may be involved in cysteine degradation and cyanide detoxification. There is confusion
in literature between this protein (mercaptopyruvate sulfurtransferase, MPST), which appears to be cytoplasmic,
and thiosulfate sulfurtransferase (rhodanese, TST, GeneID:7263), which is a mitochondrial protein. Deficiency in
MPST activity has been implicated in a rare inheritable disorder known as mercaptolactate-cysteine disulfiduria
(MCDU). Alternatively spliced transcript variants encoding same or different isoforms have been identified for
this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for MPST Gene:
MPST (mercaptopyruvate sulfurtransferase) is a protein-coding gene. Diseases associated with MPST include encephalopathy due to beta-mercaptolactate-cysteine disulfiduria, and microtia. GO annotations related to this gene include 3-mercaptopyruvate sulfurtransferase activity and thiosulfate sulfurtransferase activity. An important paralog of this gene is TST.

UniProtKB/Swiss-Prot: THTM_HUMAN, P25325
Function: Transfer of a sulfur ion to cyanide or to other thiol compounds. Also has weak rhodanese activity.
Detoxifies cyanide and is required for thiosulfate biosynthesis. Acts as an antioxidant. In combination with
cysteine aminotransferase (CAT), contributes to the catabolism of cysteine and is an important producer of
hydrogen sulfide in the brain, retina and vascular endothelial cells. Hydrogen sulfide H(2)S is an important
synaptic modulator, signaling molecule, smooth muscle contractor and neuroprotectant. Its production by the
3MST/CAT pathway is regulated by calcium ions (By similarity)

Gene Wiki entry for MPST Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MPST gene promoter:
         RFX1   USF1   AML1a   HNF-4alpha2   HNF-4alpha1   POU2F1   POU2F1a   USF-1   ZID   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMPST promoter sequence
   Search Chromatin IP Primers for MPST

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MPST


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q12.3   HGNC cytogenetic band: 22q13.1

MPST Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MPST gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P037415:  view genomic region     (about GC identifiers)

Start:
37,415,676 bp from pter      End:
37,425,863 bp from pter
Size:
10,188 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: THTM_HUMAN, P25325 (See protein sequence)
Recommended Name: 3-mercaptopyruvate sulfurtransferase  
Size: 297 amino acids; 33178 Da
Subunit: Monomer; active form (By similarity). Homodimer; disulfide-linked, inactive form (By similarity)
Miscellaneous: Thioredoxin (Trx) or dihydrolipoic acid (DHLA) are required to release hydrogen sulfide from the
persulfide intermediate (By similarity)
Caution: Was originally (PubMed:1953758) thought to be rhodanese
2 PDB 3D structures from and Proteopedia for MPST:
3OLH (3D)        4JGT (3D)    
Secondary accessions: O75750

Explore the universe of human proteins at neXtProt for MPST: NX_P25325

Explore proteomics data for MPST at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MPST Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001013454.1  NP_001123989.1  NP_066949.2  

    ENSEMBL proteins: 
     ENSP00000384812   ENSP00000383950   ENSP00000342333   ENSP00000411719   ENSP00000385062  
     ENSP00000380402   ENSP00000380318  

    MPST Human Recombinant Protein Products:

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    Novus Biologicals MPST Proteins
    Novus Biologicals MPST Lysates
    Browse Sino Biological Recombinant Proteins
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    ProSpec Recombinant Protein for MPST
    Cloud-Clone Corp. Proteins for MPST

     
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    antibodies-online proteins for MPST (9 products) 

     
    antibodies-online peptides for MPST

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    MPST Assay Products:

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    Cloud-Clone Corp. ELISAs for MPST
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    antibodies-online kits for MPST (10 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: 3-Mercaptopyruvate sulfurtransferase
    Hydrogen sulphide synthesis

    2 InterPro protein domains:
     IPR001763 Rhodanese-like_dom
     IPR001307 Thiosulphate_STrfase_CS

    Graphical View of Domain Structure for InterPro Entry P25325

    ProtoNet protein and cluster: P25325

    2 Blocks protein domains:
    IPB001307 Thiosulfate sulfurtransferase
    IPB001763 Rhodanese-like


    UniProtKB/Swiss-Prot: THTM_HUMAN, P25325
    Domain: Contains two rhodanese domains with different primary structures but with near identical secondary
    structure conformations suggesting a common evolutionary origin. Only the C-terminal rhodanese domain contains
    the catalytic cysteine residue (By similarity)
    Similarity: Contains 2 rhodanese domains


    Find genes that share domains with MPST           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: THTM_HUMAN, P25325
    Function: Transfer of a sulfur ion to cyanide or to other thiol compounds. Also has weak rhodanese activity.
    Detoxifies cyanide and is required for thiosulfate biosynthesis. Acts as an antioxidant. In combination with
    cysteine aminotransferase (CAT), contributes to the catabolism of cysteine and is an important producer of
    hydrogen sulfide in the brain, retina and vascular endothelial cells. Hydrogen sulfide H(2)S is an important
    synaptic modulator, signaling molecule, smooth muscle contractor and neuroprotectant. Its production by the
    3MST/CAT pathway is regulated by calcium ions (By similarity)
    Catalytic activity: 3-mercaptopyruvate + cyanide = pyruvate + thiocyanate
    Enzyme regulation: By oxidative stress, and thioredoxin. Under oxidative stress conditions, the catalytic cysteine
    site is converted to a sulfenate which inhibits the MPST enzyme activity. Reduced thioredoxin cleaves an
    intersubunit disulfide bond to turn on the redox switch and reactivate the enzyme

         Genatlas biochemistry entry for MPST:
    mercaptopyruvate sulfurtransferase

         Enzyme Number (IUBMB): EC 2.8.1.21

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004792thiosulfate sulfurtransferase activity IEA--
    GO:00167843-mercaptopyruvate sulfurtransferase activity IEA--
         
    Find genes that share ontologies with MPST           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MPST

    miRNA
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    miRTarBase miRNAs that target MPST:
    hsa-mir-191-5p (MIRT021491), hsa-mir-193b-3p (MIRT016463)

    Block miRNA regulation of human, mouse, rat MPST using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate MPST:
    hsa-miR-3065-3p
    SwitchGear 3'UTR luciferase reporter plasmidMPST 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MPST

    Gene Editing
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MPST
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPST

    Cell Line
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    THTM_HUMAN, P25325: Cytoplasm (By similarity). Mitochondrion (By similarity). Cell junction, synapse,
    synaptosome (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion4
    cytosol3
    nucleus2
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IEA--
    GO:0005743mitochondrial inner membrane ----
    GO:0030054cell junction IEA--
    GO:0043005neuron projection ISS--

    Find genes that share ontologies with MPST           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MPST About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolic pathways0.38
    2Sulfur amino acid metabolism
    Cysteine and methionine metabolism0.35
    3Trans-sulfuration pathway
    Trans-sulfuration pathway
    4Sulfur relay system
    Sulfur relay system
    5Sulfur metabolism
    Sulfur metabolism


    Find genes that share SuperPaths with MPST           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MPST
        Trans-sulfuration pathway



    4 Kegg Pathways  (Kegg details for MPST):
        Cysteine and methionine metabolism
    Sulfur metabolism
    Metabolic pathways
    Sulfur relay system

        Pathway & Disease-focused RT2 Profiler PCR Array including MPST: 
              Amino Acid Metabolism I in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MPST

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for MPST (P253253 ENSP000003803184) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHMP243863, ENSP000003503864I2D: score=1 STRING: ENSP00000350386
    MOCS3O953963, ENSP000002440514I2D: score=1 STRING: ENSP00000244051
    NFS1Q9Y6973, ENSP000003632054I2D: score=1 STRING: ENSP00000363205
    RAE1P784063, ENSP000003602864I2D: score=1 STRING: ENSP00000360286
    MARCH6O603373I2D: score=3 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009440cyanate catabolic process TAS9070219
    GO:0009636response to toxic substance TAS9070219
    GO:0070814hydrogen sulfide biosynthetic process ISS--

    Find genes that share ontologies with MPST           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MPST (THTM)

    8 HMDB Compounds for MPST    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Mercaptolactate-cysteine disulfide3-((2-carboxy-2-hydroxyethyl)dithio)-L-Alanine (see all 4)18841-42-4--
    3-Mercaptopyruvic acid3-Mercaptopyruvate (see all 13)2464-23-5--
    CyanideCarbon nitride ion (see all 9)57-12-5--
    Ethanol1-Hydroxyethane (see all 57)64-17-5--
    Pyruvic acid2-Oxopropanoate (see all 14)127-17-3--
    SulfiteSulfite ion (see all 10)14265-45-3--
    ThiocyanateAmmonium rhodanate (see all 15)302-04-5--
    ThiosulfateHyposulfite (see all 14)14383-50-7--

    7 Novoseek inferred chemical compound relationships for MPST gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3-mercaptopyruvate 98.9 45 12871026 (4), 16719781 (4), 8806051 (3), 8934630 (2) (see all 18)
    thiosulfate 75.6 3 16500920 (1), 12871026 (1)
    thiocyanate 67.3 2 8934630 (1), 12871026 (1)
    cyanide 67.3 17 12871026 (4), 8806051 (2), 16719781 (2), 16545926 (2) (see all 5)
    sulfur 49.5 5 8934630 (1), 8806051 (1), 18781374 (1)
    cysteine 46.8 11 16719781 (3), 18537713 (2), 15329822 (1), 16545926 (1) (see all 5)
    pyruvate 41 4 2178324 (2), 16719781 (1)



    Find genes that share compounds with MPST           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MPST gene (4 alternative transcripts): 
    NM_001013436.2  NM_001130517.2  NM_021126.5  NM_001013440.1  

    Unigene Cluster for MPST:

    Mercaptopyruvate sulfurtransferase
    Hs.248267  [show with all ESTs]
    Unigene Representative Sequence: AK055733
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000401419 ENST00000404802(uc003aqm.3) ENST00000341116(uc003aqj.3)
    ENST00000429360 ENST00000404393 ENST00000485587(uc003aqi.1) ENST00000397225
    ENST00000397129(uc003aql.3 uc011amu.2)
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    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat MPST
      QuantiFast Probe-based Assays in human, mouse, rat MPST

    Additional mRNA sequence: 

    AK055733.1 BC003508.1 BC009450.1 BC016737.1 BC018717.1 BT019636.1 CR456523.1 CR541712.1 
    X59434.1 

    19 DOTS entries:

    DT.454458  DT.100878103  DT.100878114  DT.100878090  DT.100878107  DT.100878094  DT.95141890  DT.100028399 
    DT.95141915  DT.95228409  DT.100832179  DT.100878116  DT.95141919  DT.100699933  DT.100757695  DT.100769726 
    DT.100878085  DT.100878089  DT.95141928 

    Selected AceView cDNA sequences (see all 346):

    BM821221 BX393975 CR541712 BU558274 CR601393 BU615893 BG696856 BM930961 
    AU102670 CR595674 CR608639 CR601092 BG387386 CR614224 AW136716 CA396744 
    CR619875 BE531079 BU730860 BX394688 AW079544 CK903395 BC018717 CR614516 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MPST (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d · 8e
    SP1:              -                                                               
    SP2:              -     -                 -     -                                 
    SP3:                    -                 -     -                                 
    SP4:                                                                              
    SP5:                                      -                                       


    ECgene alternative splicing isoforms for MPST

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MPST expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGCGCCCGGC
    MPST Expression
    About this image

    MPST Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MPST Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.248267
        Pathway & Disease-focused RT2 Profiler PCR Array including MPST: 
              Amino Acid Metabolism I in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat MPST
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPST

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MPST gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mpst1 , 5 mercaptopyruvate sulfurtransferase1, 5 83.67(n)1
    84.8(a)1
      15 (37.47 cM)5
    2462211  NM_138670.31  NP_619611.31 
     784067125 
    chicken
    (Gallus gallus)
    Aves MPST1 mercaptopyruvate sulfurtransferase 70.61(n)
    73.65(a)
      418048  NM_001277377.1  NP_001264306.1 
    lizard
    (Anolis carolinensis)
    Reptilia MPST6
    mercaptopyruvate sulfurtransferase
    75(a)
    1 ↔ 1
    5(22685950-22692115)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.36782 Xenopus laevis transcribed sequence with weak similarity more 73.19(n)    BJ042181.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1625441 zgc:162544 58.68(n)
    58.68(a)
      796025  NM_001089346.1  NP_001082815.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mpst-66
    mpst-56
    (see all 7)
    Protein MPST-6 (mpst-6) mRNA, complete cds
    (see all 7)
    26(a)
    26(a)
    (see all 7)
    many ↔ many
    many ↔ many
    (see all 7)
    IV(8563604-8564597) WBGene00022007
    IV(8567183-8568176) WBGene00022006
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TUM1(YOR251C)4
    TUM11
    Rhodanese domain sulfur transferase, accepts persulfite more4
    TUM11
    46.04(n)1
    40.47(a)1
      15(803464-802550)4
    8544251, 4  NP_014894.31  NP_014894.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MST11 MST1 48.23(n)
    45.45(a)
      844264  NM_106574.2  NP_565203.1 
    rice
    (Oryza sativa)
    Liliopsida Os12g06086001 Os12g0608600 48.11(n)
    45.39(a)
      4352752  NM_001073769.1  NP_001067237.1 


    ENSEMBL Gene Tree for MPST (if available)
    TreeFam Gene Tree for MPST (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MPST gene
    TST2  
    1 SIMAP similar gene for MPST using alignment to 6 protein entries:     THTM_HUMAN (see all proteins):
    TST

    Find genes that share paralogs with MPST           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for MPST (see all 173)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1807415031,2
    --37418233(+) ACACCA/CCTTGG 3 -- int10--------
    rs622307921,2
    C,F--37418261(+) AGACCG/ATGCTG 3 -- int15Minor allele frequency- A:0.12NA WA 244
    rs1385681321,2
    C--37418413(+) TCACTC/TTCTCT 3 -- int10--------
    rs1866009811,2
    --37418660(+) TCCTGA/TGACCA 3 -- int10--------
    rs1909922051,2
    --37418695(+) TTGCCA/CGTGGC 3 -- int10--------
    rs1811906571,2
    C--37418701(+) GTGGCA/CTCATT 3 -- int10--------
    rs1495918031,2
    C--37418778(+) GCACTC/TGGTCC 3 -- int10--------
    rs1472602091,2
    --37418901(+) CTCCAC/TACACC 3 -- int10--------
    rs48215851,2
    C,A,H--37419220(+) GTGTGG/TCTGAG 3 -- int111Minor allele frequency- T:0.25WA NA CSA EA 371
    rs1860343011,2
    --37419232(+) AGTCCA/GGATTC 3 -- int10--------

    HapMap Linkage Disequilibrium report for MPST (37415676 - 37425863 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for MPST:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661268CNV Deletion23128226
    nsv3622CNV Insertion18451855
    esv34015CNV Loss18971310
    dgv4960n71CNV Loss21882294
    nsv829203CNV Loss20364138
    nsv834187CNV Loss17160897
    nsv459882CNV Gain19166990

    Human Gene Mutation Database (HGMD): MPST
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MPST
    DNA2.0 Custom Variant and Variant Library Synthesis for MPST

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602496    OMIM disorders: --

    UniProtKB/Swiss-Prot: THTM_HUMAN, P25325
  • Note=Aberrant MPST activity is found in a few cases of mercaptolactate-cysteine disulfiduria (MCDU)
    characterized by the appearance of large quantaties of the sulfur-containing amino acid,
    beta-mercaptolactate-cysteine disulfide, in the urine (PubMed:4973015, PubMed:4690911 and PubMed:6945862). Some
    cases have associated mental retardation (PubMed:4973015 and PubMed:6945862)

  • 2 diseases for MPST:    
    About MalaCards
    encephalopathy due to beta-mercaptolactate-cysteine disulfiduria    microtia


    Find genes that share disorders with MPST           About GenesLikeMe

    Genetic Association Database (GAD): MPST
    Human Genome Epidemiology (HuGE) Navigator: MPST (1 document)

    Export disorders for MPST gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MPST gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with MPST)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and sequence analysis of the human liver rhodanese: comparison with the bovine and chicken enzymes. (PubMed id 1953758)1, 2, 3 Pallini R.... Cacace M.G. (Biochem. Biophys. Res. Commun. 1991)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    5. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)
    6. Evidence for a functional genetic polymorphism of the human mercaptopyruvate sulfurtransferase (MPST), a cyanide detoxification enzyme. (PubMed id 16545926)1, 9 Billaut-Laden I.... Broly F. (Toxicol. Lett. 2006)
    7. Structure and kinetic analysis of H2S production by human mercaptopyruvate sulfurtransferase. (PubMed id 23698001)1 Yadav P.K....Banerjee R. (J. Biol. Chem. 2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4357 HGNC: 7223 AceView: MPST Ensembl:ENSG00000128309 euGenes: HUgn4357
    ECgene: MPST Kegg: 4357 H-InvDB: MPST

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MPST Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MPST gene:
    Search GeneIP for patents involving MPST

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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