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

MTM1 Gene

protein-coding   GIFtS: 67
GCID: GC0XP149738

myotubularin 1

(Previous name: myotubular myopathy 1 )
 Explore 25 diseases affiliated with
MTM1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MTM1    

Aliases
for MTM1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Myotubularin 11 2     Myotubularin1
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


Summaries
for MTM1 gene

(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:
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)

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)


Genomic Views
for MTM1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_167198.1  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MTM1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MTM1 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

Proteins
for MTM1 gene

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000243.1  
    ENSEMBL proteins: 
     ENSP00000359423   ENSP00000400699   ENSP00000389157   ENSP00000444015   ENSP00000439784  
    Reactome Protein details: Q13496
    Human Recombinant Protein Products: 
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    Novus Biologicals MTM1 Proteins
    Novus Biologicals MTM1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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 IDA12217958
    GO:0005770late endosome IDA14722070
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA12217958


    MTM1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for MTM1

    Protein Domains /
    Families
    for MTM1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MTM1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR016130 Tyr_Pase_AS
     IPR000387 Tyr/Dual-sp_Pase
     IPR017906 Myotubularin_phosphatase_dom
     IPR011993 PH_like_dom
     IPR004182 GRAM

    Graphical View of Domain Structure for InterPro Entry Q13496

    ProtoNet protein and cluster: Q13496

    2 Blocks protein families:
    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


    Function
    for MTM1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MTM1
    8/27 QIAGEN miScript miRNA Assays for microRNAs that regulate MTM1 (see all 27):
    hsa-miR-520d-5p hsa-miR-4328 hsa-miR-578 hsa-miR-650 hsa-miR-570 hsa-miR-1297 hsa-miR-183* hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmid: MTM1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MTM1 (see all 7)
    OriGene shRNA RFP: MTM1
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    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for MTM1

    In Situ Assay
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    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:0019215intermediate filament binding IDA--
    GO:0035091phosphatidylinositol binding IDA14722070


    MTM1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Mtm1tm1.1Jman for MTM1
         12 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Mtm1):
     behavior/neurological  cardiovascular system  growth/size  homeostasis/metabolism  liver/biliary system 
     mortality/aging  muscle  no phenotypic analysis  normal  reproductive system 
     respiratory system  skeleton 

    MTM1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for MTM1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    2PI Metabolism
    		PI Metabolism1.00
    		Synthesis of PIPs at the plasma membrane0.66
    3Synthesis of PIPs at the Golgi membrane
    		Synthesis of PIPs at the late endosome membrane0.20
    		Synthesis of PIPs at the early endosome membrane0.15
    4Glycerophospholipid biosynthesis
    		Phospholipid metabolism0.64

    Pathway sources
    See GeneCards unified pathways
    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



    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
    MLLQ031643I2D: score=1 
    FIG4ENSP000002301244STRING: ENSP00000230124
    INPP4AENSP000000743044STRING: ENSP00000074304
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    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



    Drugs & Compounds
    for MTM1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for MTM1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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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    hsa-miR-520d-5p hsa-miR-4328 hsa-miR-578 hsa-miR-650 hsa-miR-570 hsa-miR-1297 hsa-miR-183* hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmid: MTM1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA 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):

    AW299484 CB142593 N27379 CR591300 CB989961 N51953 CB961270 CA445951 
    BQ018714 AA825488 CF593317 AI337941 AA825701 BX422599 BG719505 CA390331 
    BG037030 AA737053 AA877602 AA515397 T17224 AA376803 AI917000 CF994581 

    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

    Expression
    for MTM1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAAACTTTTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    MTM1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyRenal VesicleKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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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    In Situ
    Assay Products:     
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    Orthologs
    for MTM1 gene

    (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 MTM1 gene from 8/24 species (see all 24)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves MTM11 myotubularin 1 76.85(n)
    82.72(a)    		   422388  XM_420357.3  XP_420357.2 
    lizard
    (Anolis carolinensis)    		 Reptilia MTM16
    		 --
    		 81(a)
    		 1 ↔ 1
    		 GL343310.1(795991-815577)
    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 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT5G045406
    MTM16
    		 Myotubularin-like phosphatases II-like protein
    		 24(a)
    23(a)
    		 many ↔ many
    many ↔ many
    		 5(1296442-1302444)
    3(3292899-3298522)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 inositol or phosphatidylinositol phosphatase/ phos...
    		 23(a)
    		 1 → many
    		 8(27856282-27865603)


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

    Paralogs
    for MTM1 gene

    (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  MTMR92  
    SBF22  MTMR62  MTMR112  SBF12  MTMR12  
    10 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    MTMR10

    MTM1 for paralogs           About GeneDecksing



    Genomic Variants
    for MTM1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1114 NCBI SNPs in MTM1 are shown (see all 1114)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1475575971,2
    		--149735054(+) TTTCTA/GGAGGT 1 -- us2k10--------
    rs1419855241,2
    		--149735101(+) AGGAAC/TTACCT 1 -- us2k10--------
    rs1812185311,2
    		--149735118(+) GATGAG/TACCAT 1 -- us2k10--------
    rs1853187631,2
    		--149735273(+) ATTTTC/TCTCTA 1 -- us2k10--------
    rs1909495271,2
    		--149735446(+) GCAGAC/TGTGTA 1 -- us2k10--------
    rs1496908951,2
    		--149735481(+) AAGAAC/GGGCTG 1 -- us2k10--------
    rs1828303531,2
    		--149735533(+) TGCTAC/TTCTGC 1 -- us2k10--------
    rs126880651,2
    		H--149735590(+) AAGGGC/GTGGAG 1 -- us2k10--------
    rs1873142481,2
    		--149735860(+) GCTGTC/TTTTAG 1 -- us2k10--------
    rs4951621,2
    		C,A,H,--149735940(+) TGCTCA/GTGTAT 1 -- us2k14Minor allele frequency- G:0.00NS EA 418

    HapMap Linkage Disequilibrium report for MTM1 (149737047 - 149841795 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for MTM1
         2 Indels: 83837 97074
    Human Gene Mutation Database (HGMD): MTM1

    Locus Specific Mutation Databases (LSDB): MTM1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MTM1
    DNA2.0 Custom Variant and Variant Library Synthesis for MTM1

    Disorders / Diseases
    for MTM1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    MTM1 for disorders           About GeneDecksing

    OMIM gene information: 300415   
    OMIM disorders: 310400  
    UniProtKB/Swiss-Prot: MTM1_HUMAN, Q13496
  • Defects in MTM1 are the cause of centronuclear myopathy 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

    20/25 diseases for MTM1 (see all 25):    About MalaCards
    charcot-marie-tooth neuropathy type 4    charcot-marie-tooth neuropathy    myopathy    charcot-marie-tooth neuropathy type 4b2
    charcot-marie-tooth disease    x-linked centronuclear myopathy    early-onset glaucoma    spinal muscular atrophy
    centronuclear myopathy    ocular hypotension    tooth disease    muscular atrophy
    neuromuscular disease    x inactivation    neuropathy    glaucoma
    muscle disorders    glomerulopathy    ptosis    genetic disease

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

    10/13 Novoseek 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
    Myotubular Myopathy, X-Linked

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

    Export disorders for MTM1 gene to outside databases

    Publications
    for MTM1 gene

    (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 149):
    (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)

    External Searches for MTM1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing MTM1 gene

    (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 H-InvDB: MTM1

    Other Databases showing MTM1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MTM1 gene

    (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

    Intellectual Property
    for MTM1 gene

    (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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