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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PTPMT1 Gene

protein-coding   GIFtS: 56
GCID: GC11P047586

Protein Tyrosine Phosphatase, Mitochondrial 1

  See 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)
About This Section

Aliases
Protein Tyrosine Phosphatase, Mitochondrial 11 2     DUSP232
Phosphoinositide Lipid Phosphatase2 3     NB4 Apoptosis/Differentiation Related Protein2
Protein-Tyrosine Phosphatase Mitochondrial 12 3     Phosphatidylglycerophosphatase And Protein-Tyrosine Phosphatase 12
MOSP2 3     EC 3.1.3.163
PLIP2 3     EC 3.1.3.273
PTEN-Like Phosphatase2 3     EC 3.1.3.483

External Ids:    HGNC: 269651   Entrez Gene: 1149712   Ensembl: ENSG000001105367   OMIM: 6095385   UniProtKB: Q8WUK03   

Export aliases for PTPMT1 gene to outside databases

Previous GC identifers: GC11P047532 GC11U900934 GC11P047287


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for PTPMT1 Gene: 
PTPMT1 (protein tyrosine phosphatase, mitochondrial 1) is a protein-coding gene. Diseases associated with PTPMT1 include cogan's syndrome, and stomach cancer, and among its related super-pathways are Glycerophospholipid biosynthesis and Metabolic pathways. GO annotations related to this gene include phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity and protein tyrosine phosphatase activity.

UniProtKB/Swiss-Prot: PTPM1_HUMAN, Q8WUK0
Function: Lipid phosphatase which dephosphorylates phosphatidylglycerophosphate (PGP) to phosphatidylglycerol
(PG). PGP is an essential intermediate in the biosynthetic pathway of cardiolipin, a mitochondrial-specific
phospholipid regulating the membrane integrity and activities of the organelle. Has also been shown to display
phosphatase activity toward phosphoprotein substrates, specifically mediates dephosphorylation of mitochondrial
proteins, thereby playing an essential role in ATP production. Has probably a preference for proteins
phosphorylated on Ser and/or Thr residues compared to proteins phosphorylated on Tyr residues. Probably involved
in regulation of insulin secretion in pancreatic beta cells (By similarity)




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_009237.18  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PTPMT1 gene promoter:
         MEF-2A   C/EBPbeta   AP-1   ATF-2   c-Jun   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPTPMT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PTPMT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PTPMT1


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

Entrez Gene cytogenetic band: 11p11.2   Ensembl cytogenetic band:  11p11.2   HGNC cytogenetic band: 11p11.2

PTPMT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PTPMT1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P047586:  view genomic region     (about GC identifiers)

Start:
47,586,982 bp from pter      End:
47,595,013 bp from pter
Size:
8,032 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PTPM1_HUMAN, Q8WUK0 (See protein sequence)
Recommended Name: Phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1 precursor  
Size: 201 amino acids; 22844 Da
Subcellular location: Mitochondrion inner membrane (By similarity). Note=Associated with the inner membrane (By
similarity)
Caution: Was originally erroneously termed DUSP23
Sequence caution: Sequence=AAH14048.1; Type=Erroneous initiation; Sequence=AAK07545.1; Type=Erroneous initiation;
Secondary accessions: E9PAT8 Q7Z557 Q96CR2 Q9BXV8
Alternative splicing: 3 isoforms:  Q8WUK0-1   Q8WUK0-2   Q8WUK0-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PTPMT1: NX_Q8WUK0

Explore proteomics data for PTPMT1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WUK0

  • PTPMT1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PTPMT1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001137456.1  NP_783859.1  

    ENSEMBL proteins: 
     ENSP00000410272   ENSP00000436160   ENSP00000325882   ENSP00000325958  
    Reactome Protein details: Q8WUK0
    Human Recombinant Protein Products for PTPMT1: 
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    Sino Biological Recombinant Protein for PTPMT1
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    ProSpec Recombinant Protein for PTPMT1
    Cloud-Clone Corp. Proteins for PTPMT1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IBA--
    GO:0005743mitochondrial inner membrane IEA--

    PTPMT1 for ontologies           About GeneDecksing



    PTPMT1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    DUSPA: Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases

    4 InterPro protein domains:
     IPR016130 Tyr_Pase_AS
     IPR024950 DUSP
     IPR000387 Tyr/Dual-sp_Pase
     IPR000340 Dual-sp_phosphatase_cat-dom

    Graphical View of Domain Structure for InterPro Entry Q8WUK0

    ProtoNet protein and cluster: Q8WUK0

    1 Blocks protein domain: IPB000340 Dual specificity protein phosphatase

    UniProtKB/Swiss-Prot: PTPM1_HUMAN, Q8WUK0
    Similarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily
    Similarity: Contains 1 tyrosine-protein phosphatase domain


    PTPMT1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PTPM1_HUMAN, Q8WUK0
    Function: Lipid phosphatase which dephosphorylates phosphatidylglycerophosphate (PGP) to phosphatidylglycerol
    (PG). PGP is an essential intermediate in the biosynthetic pathway of cardiolipin, a mitochondrial-specific
    phospholipid regulating the membrane integrity and activities of the organelle. Has also been shown to display
    phosphatase activity toward phosphoprotein substrates, specifically mediates dephosphorylation of mitochondrial
    proteins, thereby playing an essential role in ATP production. Has probably a preference for proteins
    phosphorylated on Ser and/or Thr residues compared to proteins phosphorylated on Tyr residues. Probably involved
    in regulation of insulin secretion in pancreatic beta cells (By similarity)
    Catalytic activity: Phosphatidylglycerophosphate + H(2)O = phosphatidylglycerol + phosphate
    Catalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate
    Catalytic activity: A phosphoprotein + H(2)O = a protein + phosphate

         Enzyme Numbers (IUBMB): EC 3.1.3.161 EC 3.1.3.271 EC 3.1.3.481

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004439phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IBA--
    GO:0004725protein tyrosine phosphatase activity IEA--
    GO:0008138protein tyrosine/serine/threonine phosphatase activity IBA--
    GO:0008962phosphatidylglycerophosphatase activity ISS--
    GO:0016791phosphatase activity ----
         
    PTPMT1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PTPMT1:
     Decreased TP53 protein express 

         6 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Ptpmt1):
     cellular  embryogenesis  growth/size  hematopoietic system  immune system 
     mortality/aging 

    PTPMT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PTPMT1: Ptpmt1tm1Ckq Ptpmt1tm1.2Jedi

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PTPMT1 
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    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PTPMT1
    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate PTPMT1 (see all 12):
    hsa-miR-1226 hsa-miR-576-5p hsa-miR-634 hsa-miR-4260 hsa-miR-197 hsa-miR-151-3p hsa-miR-335 hsa-miR-1207-3p
    SwitchGear 3'UTR luciferase reporter plasmidPTPMT1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPMT1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PTPMT1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis0.64
    Phospholipid metabolism0.64
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    3choline biosynthesis III
    Synthesis of PG0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5        Reactome Pathways for PTPMT1
        Glycerophospholipid biosynthesis
    Metabolism
    Phospholipid metabolism
    Synthesis of PG
    Metabolism of lipids and lipoproteins


    UniProtKB/Swiss-Prot: PTPM1_HUMAN, Q8WUK0
    Pathway: Phospholipid metabolism; phosphatidylglycerol biosynthesis; phosphatidylglycerol from CDP-diacylglycerol:
    step 2/2


    PTPMT1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PTPMT1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5 Interacting proteins for PTPMT1 (Q8WUK02, 3 ENSP000003259584) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK6Q166592, 3MINT-8261780 I2D: score=2 
    TAB1Q157502, 3MINT-8260306 I2D: score=2 
    MDFIQ997503I2D: score=1 
    TMEM55BENSP000003811024STRING: ENSP00000381102
    TMEM55AENSP000002854194STRING: ENSP00000285419
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006470protein dephosphorylation IBA--
    GO:0006644phospholipid metabolic process TAS--
    GO:0006655phosphatidylglycerol biosynthetic process TAS--
    GO:0016311dephosphorylation ----
    GO:0032049cardiolipin biosynthetic process ISS--

    PTPMT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PTPMT1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PTPMT1 (PTPM1)

    3 HMDB Compounds for PTPMT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Phosphatidyl-D-myo-inositol1-Phosphatidyl-1D-myo-inositol (see all 6)----
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    4 Novoseek inferred chemical compound relationships for PTPMT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 58.6 23 11907074 (2), 12879010 (2), 7718049 (1), 9544992 (1) (see all 15)
    phosphoinositide 36.3 1 17142110 (1)
    serine 31.4 1 10602479 (1)
    lipid 0 1 10932079 (1)

    Search CenterWatch for drugs/clinical trials and news about PTPMT1 / PTPM1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PTPMT1 gene (2 alternative transcripts): 
    NM_001143984.1  NM_175732.2  

    Unigene Clusters for PTPMT1:

    Protein tyrosine phosphatase, mitochondrial 1
    Hs.656205  [show with all ESTs], Hs.742231
    Unigene Representative Sequences: NM_175732, BC014048
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000426530 ENST00000534775 ENST00000326656 ENST00000326674 ENST00000527079(uc001nfs.4 uc001nfv.4 uc009ylt.3 uc001nfu.4)

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    hsa-miR-1226 hsa-miR-576-5p hsa-miR-634 hsa-miR-4260 hsa-miR-197 hsa-miR-151-3p hsa-miR-335 hsa-miR-1207-3p
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    Additional mRNA sequence: BC014048.1 

    12 DOTS entries:

    DT.92444702  DT.100821907  DT.99980096  DT.100029638  DT.120735689  DT.120735620  DT.92444700  DT.92444706 
    DT.120735745  DT.85104508  DT.97786066  DT.100717211 

    24/577 AceView cDNA sequences (see all 577):

    BE879492 BM549265 BU165649 AL135819 CR602353 BE909774 BF435924 AA136516 
    CA844246 BQ435071 CR611803 BM840169 BU678841 CR614929 CB852109 AV654780 
    BM793850 BG219906 AY333987 BU689034 BG290344 BP431115 AI302861 CA397674 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for PTPMT1 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11a · 11b
    SP1:                                                                                      -                                   -                     
    SP2:                                                                                      -                                   -                     
    SP3:                                                                                                                                                
    SP4:                                                                                      -                                                         
    SP5:                                                                                                                                                


    ECgene alternative splicing isoforms for PTPMT1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PTPMT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PTPMT1 Expression
    About this image


    See PTPMT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PTPMT1

    SOURCE GeneReport for Unigene clusters: Hs.656205 Hs.742231
        SABiosciences Custom PCR Arrays for PTPMT1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPMT1

    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PTPMT1 gene from 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ptpmt11 , 5 protein tyrosine phosphatase, mitochondrial 11, 5 87.05(n)1
    84.46(a)1
      2 (50.44 cM)5
    664611  NM_025576.21  NP_079852.11 
     909087165 
    chicken
    (Gallus gallus)
    Aves PTPMT11 protein tyrosine phosphatase, mitochondrial 1 69.12(n)
    65.79(a)
      423181  XM_421105.3  XP_421105.1 
    lizard
    (Anolis carolinensis)
    Reptilia PTPMT16
    Uncharacterized protein
    56(a)
    1 ↔ 1
    1(44261702-44268046)
    zebrafish
    (Danio rerio)
    Actinopterygii ptpmt11 protein tyrosine phosphatase, mitochondrial 1 60.31(n)
    58.38(a)
      567019  NM_001080187.1  NP_001073656.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Plip1 PTEN-like phosphatase 56.98(n)
    45.93(a)
      42807  NM_142923.2  NP_651180.3 
    worm
    (Caenorhabditis elegans)
    Secernentea F28C6.81 Protein F28C6.8 43.61(n)
    32.88(a)
      174381  NM_063425.4  NP_495826.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G566101 dual specificity protein phosphatase family protein 46.4(n)
    39.77(a)
      835762  NM_125044.3  NP_200472.2 
    rice
    (Oryza sativa)
    Liliopsida Os05g05242001 hypothetical protein 49.62(n)
    41.95(a)
      4339367  NM_001062623.1  NP_001056088.1 


    ENSEMBL Gene Tree for PTPMT1 (if available)
    TreeFam Gene Tree for PTPMT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/151 SNPs in PTPMT1 are shown (see all 151)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2001240261,2
    Cuntested147593121(+) GAGTTC/TCACAA 3 F syn1 ut311Minor allele frequency- T:0.00EU 1323
    rs1434741101,2
    --47585000(+) TGGGAA/GACCAA 2 -- us2k10--------
    rs1857276451,2
    --47585087(+) ACACAA/CAAAAT 2 -- us2k10--------
    rs1889728581,2
    C--47585107(+) ATGGTA/GGCGGG 2 -- us2k10--------
    rs1817273561,2
    --47585109(+) GGTGGC/TGGGCA 2 -- us2k10--------
    rs1862262321,2
    --47585197(+) GATGGC/TGCCAC 2 -- us2k10--------
    rs110392981,2
    F,H--47585198(+) ATGGCA/GCCACT 2 -- us2k16Minor allele frequency- G:0.21NS EA CSA WA 538
    rs1422234951,2
    C--47585254(+) AATAT-/AAAAAA 2 -- us2k10--------
    rs71263781,2
    C,F,A--47585348(+) gggacG/Tgatct 2 -- us2k17Minor allele frequency- T:0.32NA WA EA 366
    rs1920759931,2
    --47585513(+) GATCAC/TGCCAT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for PTPMT1 (47586982 - 47595013 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for PTPMT1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv509405CNV Insertion20534489
    nsv897325CNV Loss21882294
    nsv314CNV Loss18451855
    nsv832142CNV Loss17160897
    nsv825872CNV Gain20364138

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    DNA2.0 Custom Variant and Variant Library Synthesis for PTPMT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609538    OMIM disorders: --

    9 diseases for PTPMT1:    About MalaCards
    cogan's syndrome    stomach cancer    centronuclear myopathy    myopathy
    endotheliitis    hepatocellular carcinoma    breast cancer    gastric cancer
    pancreatitis

    1 disease from the University of Copenhagen DISEASES database for PTPMT1:
    Centronuclear myopathy

    PTPMT1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for PTPMT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 0 2 9544992 (1), 10602479 (1)


    Export disorders for PTPMT1 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)
    About This Section

    PubMed articles for PTPMT1 gene, integrated from 9 sources (see all 33):
    (articles sorted by number of sources associating them with PTPMT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (2004)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    3. Downregulation of the mitochondrial phosphatase PTPMT1 is sufficient to promote cancer cell death. (PubMed id 23326511)1 Niemi N.M....MacKeigan J.P. (2013)
    4. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    5. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    6. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    7. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    8. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    10. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 114971 HGNC: 26965 AceView: NDUFS3andPLIP Ensembl:ENSG00000110536 euGenes: HUgn114971
    ECgene: PTPMT1 H-InvDB: PTPMT1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PTPMT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PTPMT1 gene:
    Search GeneIP for patents involving PTPMT1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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