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

MTM1 Gene

protein-coding   GIFtS: 71
GCID: GC0XP149738

Myotubularin 1

(Previous name: myotubular myopathy 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
Myotubularin 11 2     myotubularin2
MTMX2 5     CG23
Myotubular Myopathy 11     EC 3.1.3.643
CNM2     EC 3.1.3.488
XLMTM2     

External Ids:    HGNC: 74481   Entrez Gene: 45342   Ensembl: ENSG000001711007   OMIM: 3004155   UniProtKB: Q134963   

Export aliases for MTM1 gene to outside databases

Previous GC identifers: GC0XP144039 GC0XP146420 GC0XP147508 GC0XP148378 GC0XP148379 GC0XP149407 GC0XP149487 GC0XP138597


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

Entrez Gene summary for MTM1 Gene:
This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is
required for muscle cell differentiation and mutations in this gene have been identified as being responsible for
X-linked myotubular myopathy. (provided by RefSeq, Jul 2008)

GeneCards Summary for MTM1 Gene: 
MTM1 (myotubularin 1) is a protein-coding gene. Diseases associated with MTM1 include early-onset glaucoma, and x-linked centronuclear myopathy, and among its related super-pathways are Metabolic pathways and PI Metabolism. GO annotations related to this gene include protein tyrosine phosphatase activity and phosphoprotein phosphatase activity. An important paralog of this gene is MTMR7.

UniProtKB/Swiss-Prot: MTM1_HUMAN, Q13496
Function: Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and
phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also been shown to dephosphorylate phosphotyrosine- and
phosphoserine-containing peptides. Negatively regulates EGFR degradation through regulation of EGFR trafficking
from the late endosome to the lysosome. Plays a role in vacuolar formation and morphology. Regulates desmin
intermediate filament assembly and architecture. Plays a role in mitochondrial morphology and positioning.
Required for skeletal muscle maintenance but not for myogenesis

Gene Wiki entry for MTM1 (Myotubularin 1) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_167198.1  NC_018934.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MTM1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTM1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MTM1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTM1


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq27.3-q28

MTM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTM1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP149738:  view genomic region     (about GC identifiers)

Start:
149,737,047 bp from pter      End:
149,841,795 bp from pter
Size:
104,749 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: MTM1_HUMAN, Q13496 (See protein sequence)
Recommended Name: Myotubularin  
Size: 603 amino acids; 69932 Da
Subunit: Interacts with MTMR12; the interaction modulates MTM1 intracellular localization. Interacts with
KMT2A/MLL1 (via SET domain). Interacts with DES in skeletal muscle but not in cardiac muscle
Subcellular location: Cytoplasm. Cell membrane; Peripheral membrane protein. Cell projection, filopodium. Cell
projection, ruffle. Late endosome. Note=Localizes as a dense cytoplasmic network. Also localizes to the plasma
membrane, including plasma membrane extensions such as filopodia and ruffles. Predominantly located in the
cytoplasm following interaction with MTMR12. Recruited to the late endosome following EGF stimulation
Secondary accessions: A6NDB1 Q8NEL1

Explore the universe of human proteins at neXtProt for MTM1: NX_Q13496

Explore proteomics data for MTM1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13496

  • 4/27 DME Specific Peptides for MTM1 (Q13496) (see all 27)
     WRITFIN  VLYPVAS  RIPVLSW  LAMLMLD 

    MTM1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MTM1 Protein Expression
    REFSEQ proteins: NP_000243.1  
    ENSEMBL proteins: 
     ENSP00000359423   ENSP00000400699   ENSP00000389157   ENSP00000444015   ENSP00000439784  
    Reactome Protein details: Q13496
    Human Recombinant Protein Products for MTM1: 
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    Novus Biologicals MTM1 Proteins
    Novus Biologicals MTM1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MTM1 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle IDA12118066
    GO:0005737cytoplasm IDA10900271
    GO:0005770late endosome IDA14722070
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA12118066

    MTM1 for ontologies           About GeneDecksing



    MTM1 Antibody Products: 
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    Assay Products for MTM1: 
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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: 
    DUSPM: Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins

    5/6 InterPro protein domains (see all 6):
     IPR017906 Myotubularin_phosphatase_dom
     IPR010569 Myotub-related
     IPR016130 Tyr_Pase_AS
     IPR011993 PH_like_dom
     IPR000387 Tyr/Dual-sp_Pase

    Graphical View of Domain Structure for InterPro Entry Q13496

    ProtoNet protein and cluster: Q13496

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


    UniProtKB/Swiss-Prot: MTM1_HUMAN, Q13496
    Domain: The GRAM domain mediates binding to PI(3,5)P2 and, with lower affinity, to other phosphoinositides
    Similarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily
    Similarity: Contains 1 GRAM domain
    Similarity: Contains 1 myotubularin phosphatase domain


    MTM1 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: MTM1_HUMAN, Q13496
    Function: Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and
    phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also been shown to dephosphorylate phosphotyrosine- and
    phosphoserine-containing peptides. Negatively regulates EGFR degradation through regulation of EGFR trafficking
    from the late endosome to the lysosome. Plays a role in vacuolar formation and morphology. Regulates desmin
    intermediate filament assembly and architecture. Plays a role in mitochondrial morphology and positioning.
    Required for skeletal muscle maintenance but not for myogenesis
    Catalytic activity: 1-phosphatidyl-1D-myo-inositol 3-phosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol +
    phosphate
    Enzyme regulation: Allosterically activated by phosphatidylinositol 5-phosphate (PI5P)
    Biophysicochemical properties: Kinetic parameters: KM=39 uM for PI3P; KM=17 uM for PI(3,5)P2;

         Genatlas biochemistry entry for MTM1:
    myotubularin with a transcript,ubiquitously expressed,and a shorter one exclusively found in skeletal muscle and
    testis,putatively involved in signal transduction,highly conserved in yeast and C elegans

         Enzyme Numbers (IUBMB): EC 3.1.3.641 EC 3.1.3.482

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004438phosphatidylinositol-3-phosphatase activity IDA10900271
    GO:0004721phosphoprotein phosphatase activity IDA9537414
    GO:0004725protein tyrosine phosphatase activity IEA--
    GO:0005515protein binding IPI12847286
    GO:0016791phosphatase activity ----
         
    MTM1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MTM1:
     Decreased focal adhesion (FA)  

         13 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Mtm1):
     behavior/neurological  cardiovascular system  cellular  growth/size  homeostasis/metabolism 
     liver/biliary system  mortality/aging  muscle  no phenotypic analysis  normal 
     reproductive system  respiratory system  skeleton 

    MTM1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mtm1tm1.1Jman for MTM1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MTM1 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidMTM1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    (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 MTM1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    2PI Metabolism
    PI Metabolism0.66
    Synthesis of PIPs at the plasma membrane0.66
    3Synthesis of PIPs at the early endosome membrane
    Synthesis of PIPs at the early endosome membrane0.64
    Synthesis of PIPs at the late endosome membrane0.64
    4Inositol phosphate metabolism
    Inositol phosphate metabolism0.61
    Phosphatidylinositol signaling system0.61
    5Glycerophospholipid biosynthesis
    Phospholipid metabolism0.64

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5/7        Reactome Pathways for MTM1 (see all 7)
        Metabolism
    Synthesis of PIPs at the late endosome membrane
    Synthesis of PIPs at the plasma membrane
    Phospholipid metabolism
    Metabolism of lipids and lipoproteins


    3         Kegg Pathways  (Kegg details for MTM1):
        Inositol phosphate metabolism
    Metabolic pathways
    Phosphatidylinositol signaling system


    MTM1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MTM1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/14 Interacting proteins for MTM1 (Q134962, 3 ENSP000003594234) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MTMR12Q9C0I12, 3, ENSP000003715774MINT-8216994 MINT-8217019 MINT-8217228 MINT-8217008 I2D: score=1 STRING: ENSP00000371577
    KBTBD7Q8WVZ93, ENSP000003687974I2D: score=3 STRING: ENSP00000368797
    KMT2AQ031643I2D: score=1 
    FIG4ENSP000002301244STRING: ENSP00000230124
    INPP4AENSP000000743044STRING: ENSP00000074304
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006470protein dephosphorylation IDA9537414
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0008333endosome to lysosome transport IDA14722070
    GO:0015031protein transport IEA--

    MTM1 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

    MTM1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MTM1

    2 HMDB Compounds for MTM1    About this table
    CompoundSynonyms CAS #PubMed Ids
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    8 Novoseek inferred chemical compound relationships for MTM1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol 3-phosphate 93.2 60 10900271 (6), 14500759 (4), 17651088 (3), 14660569 (3) (see all 19)
    ptdins(3)p 87.2 27 12646134 (6), 11001925 (3), 17008356 (2), 12925573 (1) (see all 12)
    phosphoinositide 76 25 14722070 (3), 11395408 (2), 12018406 (1), 12878591 (1) (see all 19)
    tyrosine 49.4 21 10900271 (2), 9305655 (2), 10714588 (1), 12925573 (1) (see all 13)
    phosphatidylinositol 47.3 20 17651088 (7), 14500759 (1), 11001925 (1), 12847286 (1) (see all 6)
    phosphotyrosine 45.1 4 9537414 (1), 9736772 (1), 11001925 (1)
    lipid 41.7 15 10900271 (1), 12018406 (1), 16914545 (1), 17346927 (1) (see all 14)
    chloroquine 23.1 8 11499408 (3), 10581611 (2), 17096048 (1)

    Search CenterWatch for drugs/clinical trials and news about MTM1

    (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,
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    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 MTM1 gene: 
    NM_000252.2  

    Unigene Cluster for MTM1:

    Myotubularin 1
    Hs.655056  [show with all ESTs]
    Unigene Representative Sequence: NM_000252
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370396(uc004fef.4 uc011mxx.2 uc011mxy.2 uc011mxz.2 uc010nte.3)
    ENST00000424519 ENST00000370393 ENST00000306167 ENST00000490530 ENST00000413012
    ENST00000542741 ENST00000543350
    miRNA
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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTM1

    Additional mRNA sequence: 

    AK291710.1 AK297021.1 AK297057.1 AK304036.1 AL832715.1 BC030779.1 BC043162.2 U46024.1 

    8 DOTS entries:

    DT.216635  DT.100021258  DT.100673805  DT.91762824  DT.100690898  DT.121307860  DT.121307873  DT.91762820 

    24/137 AceView cDNA sequences (see all 137):

    AI917000 AA406314 AA515397 CB960419 CA445951 AA491225 BG037030 BG719505 
    AA860231 AA825488 AW513101 CR591300 AI018273 BQ773576 AA737053 F18465 
    AA825701 BX422599 AI129406 CF994619 AI224936 AA376803 N51953 N27379 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MTM1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b
    SP1:                                                  -     -                                                               
    SP2:                          -     -     -           -     -                                                               
    SP3:                                                                                                                        
    SP4:                    -     -     -                                                                                       


    ECgene alternative splicing isoforms for MTM1

    (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

    MTM1 expression in normal human tissues (normalized intensities)      MTM1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAACTTTTT
    MTM1 Expression
    About this image


    MTM1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Limb (Muscoskeletal System)
             Limb Bud
     
     Kidney (Urinary System)
             Renal Vesicle
     
     Blood (Cardiovascular System)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
     
     Eye (Sensory Organs)
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Yolk Sac (Extraembryonic Tissues)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac

    See MTM1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MTM1

    SOURCE GeneReport for Unigene cluster: Hs.655056
        SABiosciences Custom PCR Arrays for MTM1
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    (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 animals.

    Orthologs for MTM1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mtm11 , 5 X-linked myotubular myopathy gene 11, 5 88.83(n)1
    92.04(a)1
      X (36.55 cM)5
    177721  NM_019926.31  NP_064310.21 
     712150065 
    chicken
    (Gallus gallus)
    Aves MTM11 myotubularin 1 76.85(n)
    82.72(a)
      422388  XM_420357.3  XP_420357.2 
    African clawed frog
    (Xenopus laevis)
    Amphibia BQ399543.12   -- 75.92(n)    BQ399543.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mtm11 myotubularin 1 67.94(n)
    73.38(a)
      560881  NM_001037684.1  NP_001032773.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta myotubularin3 protein amino acid dephosphorylation
    protein tyrosine/serine/threonine
    more
    56(a)   26B4   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y110A7A.53
    mtm-11
    myotubularin-like protein3
    Protein MTM-11
    45(a)
    (best of 3)3
    53.89(n)1
    47.29(a)1
      I(5134893-5137842)3
    1721481  NM_059130.31  NP_491531.21 


    ENSEMBL Gene Tree for MTM1 (if available)
    TreeFam Gene Tree for MTM1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MTM1 gene
    MTMR72  MTMR42  MTMR122  MTMR22  MTMR102  MTMR82  MTMR32  MTMR62  
    SBF22  MTMR92  MTMR112  SBF12  MTMR12  
    9 SIMAP similar genes for MTM1 using alignment to 5 protein entries:     MTM1_HUMAN (see all proteins):
    MTMR2    MTMR1    MTMR6    MTMR7    MTMR8    MTMR9
    MTMR3    DKFZp434K171    MTMR4

    MTM1 for paralogs           About GeneDecksing



    (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

    10/1420 SNPs in MTM1 are shown (see all 1420)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0063984
    Myopathy, centronuclear, X-linked (CNMX)4--see VAR_0063982 S N mis40--------
    VAR_0063914
    Myopathy, centronuclear, X-linked (CNMX)4--see VAR_0063912 N S mis40--------
    VAR_0063994
    Myopathy, centronuclear, X-linked (CNMX)4--see VAR_0063992 G R mis40--------
    VAR_0063964
    Myopathy, centronuclear, X-linked (CNMX)4--see VAR_0063962 R L mis40--------
    VAR_0182414
    Myopathy, centronuclear, X-linked (CNMX)4--see VAR_0182412 W C mis40--------
    VAR_0182444
    Myopathy, centronuclear, X-linked (CNMX)4--see VAR_0182442 W C mis40--------
    VAR_0063974
    Myopathy, centronuclear, X-linked (CNMX)4--see VAR_0063972 M R mis40--------
    VAR_0064064
    Myopathy, centronuclear, X-linked (CNMX)4--see VAR_0064062 D N mis40--------
    VAR_0182354
    Myopathy, centronuclear, X-linked (CNMX)4--see VAR_0182352 T I mis40--------
    VAR_0182364
    Myopathy, centronuclear, X-linked (CNMX)4--see VAR_0182362 P S mis40--------

    HapMap Linkage Disequilibrium report for MTM1 (149737047 - 149841795 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MTM1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv508810CNV Insertion20534489
    nsv7149CNV Insertion18451855
    nsv508811CNV Insertion20534489
    nsv520338CNV Loss19592680


    Human Gene Mutation Database (HGMD): MTM1

    Locus Specific Mutation Databases (LSDB): MTM1
    SABiosciences Cancer Mutation PCR Assays
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    (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: 300415   
    OMIM disorders: 310400  
    UniProtKB/Swiss-Prot: MTM1_HUMAN, Q13496
  • Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]: A congenital muscle disorder characterized by
    progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also
    affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until
    the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features
    include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial
    arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 19 diseases for MTM1:    About MalaCards
    early-onset glaucoma    x-linked centronuclear myopathy    charcot-marie-tooth neuropathy type 4b2    muscle disorders
    myopathy    centronuclear myopathy    ocular hypotension    charcot-marie-tooth neuropathy type 4
    charcot-marie-tooth neuropathy    neuromuscular disease    charcot-marie-tooth disease    tooth disease
    spinal muscular atrophy    muscular atrophy    neuropathy    hypotonia
    myotonic dystrophy    glaucoma    malaria

    2 diseases from the University of Copenhagen DISEASES database for MTM1:
    Myopathy     Neuropathy

    MTM1 for disorders           About GeneDecksing

    10/13 Novoseek inferred disease relationships for MTM1 gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    centronuclear myopathy 98.9 145 16157907 (6), 9450905 (5), 19197364 (5), 18434328 (4) (see all 62)
    cmt4b 90.6 4 12687498 (1), 12668758 (1), 12646134 (1)
    myopathy, congenital 86.2 7 17008356 (1), 17251023 (1), 19197364 (1), 12467733 (1)
    charcot-marie-tooth disease 76.4 4 11275328 (1), 11456308 (1), 12554688 (1), 14690594 (1)
    myopathy 75.8 14 14500759 (1), 17005396 (1), 9689104 (1), 9736772 (1) (see all 11)
    neuromuscular diseases 56.4 3 17651088 (1), 19325702 (1), 14690594 (1)
    limb girdle 49.7 1 11552027 (1)
    sensory neuropathy 47.5 1 12668758 (1)
    congenital disorders 43.2 4 12217958 (1), 14565969 (1), 16157907 (1)
    myotonic dystrophy 25.9 1 16959509 (1)

    Genatlas disease: MTM1
    myopathy,myotubular 1,congenital muscle disorder characterized by severe hypotonia and respiratory
    insufficiency,leading to death at a mean age of 4-5 months. Muscle histology consists of small rounded muscle
    cells with centrally located nuclei surrounded by a halo without contractile elements. Including milder forms

    GeneTests: MTM1
    GeneReviews: MTM1
    Genetic Association Database (GAD): MTM1
    Human Genome Epidemiology (HuGE) Navigator: MTM1 (1 document)

    Export disorders for MTM1 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 MTM1 gene, integrated from 9 sources (see all 151):
    (articles sorted by number of sources associating them with MTM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP. (PubMed id 12847286)1, 2, 9 Nandurkar H.H....Mitchell C.A. (2003)
    2. Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction. (PubMed id 14722070)1, 2, 9 Tsujita K....Takenawa T. (2004)
    3. Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases. (PubMed id 12646134)1, 2, 9 Schaletzky J....Barr F.A. (2003)
    4. Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. (PubMed id 11001925)1, 2, 9 Blondeau F....Mandel J.L. (2000)
    5. Inaugural article: myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. (PubMed id 10900271)1, 2, 9 Taylor G.S....Dixon J.E. (2000)
    6. Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. (PubMed id 9305655)1, 2, 9 Laporte J.... Bertini E. (1997)
    7. MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy. (PubMed id 9829274)1, 2, 9 Nishino I....Nonaka I. (1998)
    8. Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients. (PubMed id 10063835)1, 2, 9 Tanner S.M....Liechti-Gallati S. (1999)
    9. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. (PubMed id 12522554)1, 2, 9 Biancalana V....Mandel J.-L. (2003)
    10. MTM1 mutations in X-linked myotubular myopathy. (PubMed id 10790201)1, 2, 9 Laporte J.... Mandel J.-L. (2000)

    (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: 4534 HGNC: 7448 AceView: MTM1 Ensembl:ENSG00000171100 euGenes: HUgn4534
    ECgene: MTM1 Kegg: 4534 H-InvDB: MTM1

    (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 MTM1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MTM1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MTM1 gene:
    Search GeneIP for patents involving MTM1

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



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    About This Section

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