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MTMR1 Gene

protein-coding   GIFtS: 60
GCID: GC0XP149861

Myotubularin Related Protein 1

  See MTMR1-related disease
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
Myotubularin Related Protein 11 2
Myotubularin-Related Protein 12
EC 3.1.3.-3
EC 3.1.38
EC 3.1.3.488

External Ids:    HGNC: 74491   Entrez Gene: 87762   Ensembl: ENSG000000636017   OMIM: 3001715   UniProtKB: Q136133   

Export aliases for MTMR1 gene to outside databases

Previous GC identifers: GC0XP144160 GC0XP146545 GC0XP147632 GC0XP148502 GC0XP149532 GC0XP138746


(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 MTMR1 Gene:
This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the
consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been
described but their biological validity has not been determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for MTMR1 Gene:
MTMR1 (myotubularin related protein 1) is a protein-coding gene. Diseases associated with MTMR1 include myotonic dystrophy type 2. GO annotations related to this gene include protein tyrosine phosphatase activity and phosphatidylinositol-3-phosphatase activity. An important paralog of this gene is MTMR7.

UniProtKB/Swiss-Prot: MTMR1_HUMAN, Q13613
Function: Lipid phosphatase that acts on phosphatidylinositol 3-phosphate and phosphatidylinositol
(3,5)-bisphosphate

Gene Wiki entry for MTMR1 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_000023.10  NT_011681.17  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MTMR1 gene promoter:
         RFX1   C/EBPbeta   ATF-2   c-Jun   Pax-4a   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTMR1 promoter sequence
   Search Chromatin IP Primers for MTMR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MTMR1


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

MTMR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTMR1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP149861:  view genomic region     (about GC identifiers)

Start:
149,861,435 bp from pter      End:
149,933,576 bp from pter
Size:
72,142 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MTMR1_HUMAN, Q13613 (See protein sequence)
Recommended Name: Myotubularin-related protein 1  
Size: 665 amino acids; 74678 Da
Subunit: Interacts with MTMR12
Secondary accessions: Q9UBX6 Q9UEM0 Q9UQD5
Alternative splicing: 2 isoforms:  Q13613-1   Q13613-2   

Explore the universe of human proteins at neXtProt for MTMR1: NX_Q13613

Explore proteomics data for MTMR1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys237
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MTMR1 (Q13613) (see all 14)
     VLYPVAS  NAELVFL  LAMLMLD  LDSYYRT 


    See MTMR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003819.1  
    ENSEMBL proteins: 
     ENSP00000431992   ENSP00000404599   ENSP00000390736   ENSP00000405946   ENSP00000434105  
     ENSP00000359417   ENSP00000436957   ENSP00000414178   ENSP00000389884   ENSP00000414925  
     ENSP00000434514   ENSP00000440534   ENSP00000387446   ENSP00000445281   ENSP00000441879  
     ENSP00000443444  
    Reactome Protein details: Q13613

    MTMR1 Human Recombinant Protein Products:

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    Novus Biologicals MTMR1 Proteins
    Novus Biologicals MTMR1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MTMR1

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    DUSPM: Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins

    Selected InterPro protein domains (see all 6):
     IPR017906 Myotubularin_phosphatase_dom
     IPR010569 Myotubularin-like_Pase_dom
     IPR016130 Tyr_Pase_AS
     IPR011993 PH_like_dom
     IPR000387 Tyr/Dual-sp_Pase

    Graphical View of Domain Structure for InterPro Entry Q13613

    ProtoNet protein and cluster: Q13613

    2 Blocks protein domains:
    IPB004182 GRAM domain
    IPB010569 Myotubularin-related


    UniProtKB/Swiss-Prot: MTMR1_HUMAN, Q13613
    Similarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily
    Similarity: Contains 1 GRAM domain
    Similarity: Contains 1 myotubularin phosphatase domain


    Find genes that share domains with MTMR1           About GenesLikeMe


    (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,
    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: MTMR1_HUMAN, Q13613
    Function: Lipid phosphatase that acts on phosphatidylinositol 3-phosphate and phosphatidylinositol
    (3,5)-bisphosphate

         Genatlas biochemistry entry for MTMR1:
    myotubularin related protein 1

         Enzyme Numbers (IUBMB): EC 3.1.32 EC 3.1.3.482 EC 3.1.3.-1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004438phosphatidylinositol-3-phosphatase activity ISS--
    GO:0004725protein tyrosine phosphatase activity IEA--
    GO:0016791phosphatase activity ----
         
    Find genes that share ontologies with MTMR1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for MTMR1:
     Increased apoptosis  Increased cell number in G1, s 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Mtmr1):
     normal 

    Find genes that share phenotypes with MTMR1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MTMR1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MTMR1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MTMR1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MTMR1

    miRNA
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    miRTarBase miRNAs that target MTMR1:
    hsa-mir-106b-5p (MIRT044287)

    Block miRNA regulation of human, mouse, rat MTMR1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MTMR1 (see all 13):
    hsa-miR-148b* hsa-miR-548d-3p hsa-miR-148b hsa-miR-218 hsa-miR-1297 hsa-miR-455-3p hsa-miR-152 hsa-miR-382
    SwitchGear 3'UTR luciferase reporter plasmidMTMR1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MTMR1
    Predesigned siRNA for gene silencing in human, mouse, rat MTMR1

    Gene Editing
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    OriGene ORF clones in mouse, rat for MTMR1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MTMR1 (NM_003828)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTMR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTMR1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTMR1


    (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
    MTMR1_HUMAN, Q13613: Cell membrane; Peripheral membrane protein; Cytoplasmic side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol4
    nucleus2
    extracellular1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane ISS--

    Find genes that share ontologies with MTMR1           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 MTMR1 About    
    See pathways by source

    SuperPathContained pathways About
    1PI Metabolism
    PI Metabolism0.65
    Synthesis of PIPs at the plasma membrane0.65
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3Glycerophospholipid biosynthesis
    Phospholipid metabolism0.64


    Find genes that share SuperPaths with MTMR1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for MTMR1
        Synthesis of PIPs at the plasma membrane


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MTMR1
    Interactions:

        Search GeneGlobe Interaction Network for MTMR1

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

    Selected Interacting proteins for MTMR1 (ENSP000003594174) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PI4K2AENSP000003596654STRING: ENSP00000359665
    PIP5K1BENSP000002653824STRING: ENSP00000265382
    HK2ENSP000002905734STRING: ENSP00000290573
    HK3ENSP000002924324STRING: ENSP00000292432
    HKDC1ENSP000003466434STRING: ENSP00000346643
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0016311dephosphorylation ----
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with MTMR1           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 MTMR1



    (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 MTMR1 gene (2 alternative transcripts): 
    NM_003828.2  NM_176789.1  

    Unigene Cluster for MTMR1:

    Myotubularin related protein 1
    Hs.347187  [show with all ESTs]
    Unigene Representative Sequence: AK226109
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000493995 ENST00000439546 ENST00000429965 ENST00000434699 ENST00000485376(uc004fej.3 uc010ntf.3)
    ENST00000370390(uc004fei.3) ENST00000490316 ENST00000445323(uc011mya.1 uc004feh.1)
    ENST00000438018 ENST00000436701 ENST00000488357 ENST00000493480 ENST00000370387
    ENST00000544228 ENST00000451863 ENST00000542156(uc004feg.1) ENST00000541925
    ENST00000538506
    miRNA
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    Block miRNA regulation of human, mouse, rat MTMR1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MTMR1 (see all 13):
    hsa-miR-148b* hsa-miR-548d-3p hsa-miR-148b hsa-miR-218 hsa-miR-1297 hsa-miR-455-3p hsa-miR-152 hsa-miR-382
    SwitchGear 3'UTR luciferase reporter plasmidMTMR1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MTMR1
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MTMR1 (NM_003828)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTMR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTMR1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MTMR1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MTMR1
      QuantiTect SYBR Green Assays in human, mouse, rat MTMR1
      QuantiFast Probe-based Assays in human, mouse, rat MTMR1

    Additional mRNA sequence: 

    AJ224979.1 AK023451.1 AK024745.1 AK055513.1 AK226109.1 AK295738.1 BC011250.1 BC032947.1 
    U58032.1 

    9 DOTS entries:

    DT.214693  DT.100747050  DT.121280170  DT.99935237  DT.92415766  DT.100025158  DT.95093789  DT.40275791 
    DT.121280161 

    Selected AceView cDNA sequences (see all 152):

    BQ068887 AW590049 BQ216281 BE463976 BQ951914 BX952364 BQ218729 T31086 
    CR621153 BQ062023 AI021942 AA234957 AA731515 AK023451 AA490802 BX364109 
    AI015137 AA700379 BM785853 AF057354 AA483839 AL601638 AI066428 BI092461 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MTMR1 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b ^ 19a ·
    SP1:              -                                                     -     -                             -                 -                       -         
    SP2:              -                                                     -     -                             -           -     -                       -         
    SP3:                                                                    -     -     -                       -                 -                 -     -         
    SP4:              -                                                     -                                                                                       
    SP5:                                                                                                                                                            

    ExUns: 19b
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for MTMR1

    (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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    MTMR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCGTGCCT
    MTMR1 Expression
    About this image


    MTMR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
     
     Blood (Cardiovascular System)
             Double Negative 2 Thymocytes Thymus
     
     Eye (Sensory Organs)
             Lens
     
     Neural Tube (Nervous System)
             Telencephalon
    MTMR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MTMR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.347187
        Custom PCR Arrays for MTMR1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MTMR1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTMR1

    (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 animals.

    Orthologs for MTMR1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mtmr11 , 5 myotubularin related protein 11, 5 90.14(n)1
    94.21(a)1
      X (36.75 cM)5
    533321  NM_016985.21  NP_058681.11 
     713647605 
    chicken
    (Gallus gallus)
    Aves MTMR11 myotubularin related protein 1 79.22(n)
    88.59(a)
      422387  XM_004940854.1  XP_004940911.1 
    lizard
    (Anolis carolinensis)
    Reptilia MTMR16
    myotubularin related protein 1
    81(a)
    1 ↔ 1
    GL343310.1(747138-815609)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.7332 Transcribed sequence with moderate similarity to protein more 79.49(n)    CF225978.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mtmr1b1 myotubularin related protein 1b 69.6(n)
    72.97(a)
      541517  NM_001014330.2  NP_001014352.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta myotubularin3 protein amino acid dephosphorylation
    protein tyrosine/serine/threonine
    more
    54(a)   26B4   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y110A7A.53 myotubularin-like protein 42(a)
    (best of 3)
      I(5134893-5137842)   --


    ENSEMBL Gene Tree for MTMR1 (if available)
    TreeFam Gene Tree for MTMR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MTMR1 gene
    MTMR72  MTMR42  MTMR122  MTMR22  MTMR102  MTM12  MTMR82  MTMR32  
    MTMR62  SBF22  MTMR92  MTMR112  SBF12  
    9 SIMAP similar genes for MTMR1 using alignment to 12 protein entries:     MTMR1_HUMAN (see all proteins):
    MTMR2    MTM1    MTMR8    DKFZp434K171    MTMR6    MTMR7
    MTMR9    MTMR3    MTMR4

    Find genes that share paralogs with MTMR1           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)
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    Selected SNPs for MTMR1 (see all 952)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1843502161,2
    --149727105(+) TGTTCC/TACATC 1 -- us2k10--------
    rs1381383901,2
    --149727247(+) TGTACC/TTAACT 1 -- us2k10--------
    rs1437221251,2
    C--149727294(+) TTTGGC/TCTAAT 1 -- us2k10--------
    rs1472213951,2
    --149727405(+) AAATAC/TCCAAC 1 -- us2k10--------
    rs1892837651,2
    --149727707(+) AATTGC/TCTCTC 1 -- us2k10--------
    rs1820520101,2
    --149727851(+) GCAGTC/TGGTGA 1 -- us2k10--------
    rs1849017231,2
    --149727921(+) CCCTCC/TTCACT 1 -- us2k10--------
    rs78884801,2
    C,F,H--149728053(+) GGATGG/TGCATG 1 -- us2k1 tfbs314Minor allele frequency- T:0.11NS EA NA WA 1982
    rs2223781,2
    C,F,A,H--149728191(+) AATCAT/CGAGCC 1 -- us2k122Minor allele frequency- C:0.33NA EA NS WA CSA 2135
    rs22725601,2
    C,H--149728250(+) TGTTGG/CATATT 1 -- us2k14Minor allele frequency- C:0.00NS EA 418

    HapMap Linkage Disequilibrium report for MTMR1 (149861435 - 149933576 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for MTMR1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2740597CNV Deletion23290073
    esv2678023CNV Deletion23128226
    nsv508813CNV Insertion20534489
    nsv508811CNV Insertion20534489
    esv26367CNV Loss19812545
    esv8745CNV Gain19470904
    nsv525661CNV Gain19592680

    Locus Specific Mutation Databases (LSDB): MTMR1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MTMR1
    DNA2.0 Custom Variant and Variant Library Synthesis for MTMR1

    (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: 300171    OMIM disorders: --

    1 disease for MTMR1:    
    About MalaCards
    myotonic dystrophy type 2

    2 diseases from the University of Copenhagen DISEASES database for MTMR1:
    Centronuclear myopathy     Myotonic dystrophy

    Find genes that share disorders with MTMR1           About GenesLikeMe


    Export disorders for MTMR1 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 MTMR1 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with MTMR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1). (PubMed id 9828128)1, 2, 3, 9 Kioschis P....Rosenthal A. (Genomics 1998)
    2. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. (PubMed id 9736772)1, 2 Laporte J....Mandel J.-L. (Hum. Mol. Genet. 1998)
    3. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. (PubMed id 8640223)1, 2 Laporte J.... Dahl N. (Nat. Genet. 1996)
    4. Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. (PubMed id 12217958)1, 9 Buj-Bello A....Mandel J.L. (Hum. Mol. Genet. 2002)
    5. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (J. Cell. Sci. 2012)
    6. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PubMed id 22223895)2 Bienvenut W.V....Giglione C. (amp 2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    8. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    9. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    10. Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2). (PubMed id 20685272)1 Santoro M....Silvestri G. (Exp. Mol. Pathol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
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      Query String
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    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8776 HGNC: 7449 AceView: MTMR1 Ensembl:ENSG00000063601 euGenes: HUgn8776
    ECgene: MTMR1 H-InvDB: MTMR1

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for MTMR1 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 MTMR1 gene:
    Search GeneIP for patents involving MTMR1

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



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