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

MTMR1 Gene

protein-coding   GIFtS: 60
GCID: GC0XP149861

Myotubularin Related Protein 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 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and myotonic dystrophy type 1, and among its related super-pathways are PI Metabolism and Metabolic pathways. 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 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:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MTMR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: MTMR1_HUMAN, Q13613 (See protein sequence)
Recommended Name: Myotubularin-related protein 1  
Size: 665 amino acids; 74678 Da
Subunit: Interacts with MTMR12
Subcellular location: Cell membrane; Peripheral membrane protein; Cytoplasmic side
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13613

  • 4/14 DME Specific Peptides for MTMR1 (Q13613) (see all 14)
     VLYPVAS  NAELVFL  LAMLMLD  LDSYYRT 

    MTMR1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MTMR1 Protein Expression
    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
    Human Recombinant Protein Products for MTMR1: 
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    Novus Biologicals MTMR1 Lysate
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MTMR1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    MTMR1 for ontologies           About GeneDecksing



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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 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


    MTMR1 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: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004438phosphatidylinositol-3-phosphatase activity ISS--
    GO:0004725protein tyrosine phosphatase activity IEA--
    GO:0016791phosphatase activity ----
         
    MTMR1 for ontologies           About GeneDecksing


    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 

    MTMR1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MTMR1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MTMR1 
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    miRNA
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    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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    (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 MTMR1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1PI Metabolism
    PI Metabolism0.66
    Synthesis of PIPs at the plasma membrane0.66
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    3Glycerophospholipid biosynthesis
    Phospholipid metabolism0.64
    4Fructose and mannose metabolism
    Fructose and mannose metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5        Reactome Pathways for MTMR1
        Metabolism
    Synthesis of PIPs at the plasma membrane
    Phospholipid metabolism
    Metabolism of lipids and lipoproteins
    PI Metabolism


    1         Kegg Pathway  (Kegg details for MTMR1):
        Fructose and mannose metabolism


    MTMR1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MTMR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/15 Interacting proteins for MTMR1 (ENSP000003594174) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PI4K2AENSP000003596654STRING: ENSP00000359665
    SYNJ1ENSP000003222344STRING: ENSP00000322234
    SYNJ2ENSP000003477924STRING: ENSP00000347792
    HK2ENSP000002905734STRING: ENSP00000290573
    HK3ENSP000002924324STRING: ENSP00000292432
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    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--

    MTMR1 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MTMR1

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

    REFSEQ mRNAs for 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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    8/13 QIAGEN miScript miRNA 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
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    Inhib. RNA
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    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 

    24/152 AceView cDNA sequences (see all 152):

    AA731515 BQ951914 AA483839 BQ218729 AW590049 AI021942 BX952364 AA490802 
    BQ062023 AF057354 BE463976 BM785853 BQ068887 CR621153 AK023451 T31086 
    BX364109 BQ216281 AI015137 AA234957 AL601638 AA700379 BX476253 BX364110 

    GeneLoc Exon Structure

    5/8 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™, 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

    MTMR1 expression in normal human tissues (normalized intensities)      MTMR1 embryonic expression: see
    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 
     5/16 selected tissues (see all 16) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
             brain/midbrain   
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             Double Negative 2 Thymocytes Thymus
             b cells   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/atrium   
     
     Eye (Sensory Organs)
             Retina
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus

    See MTMR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MTMR1

    SOURCE GeneReport for Unigene cluster: Hs.347187
        SABiosciences Custom PCR Arrays for MTMR1
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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MTMR1 gene from 7/15 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 89.57(n)1
    93.23(a)1
      X (36.75 cM)5
    533321  NM_016985.21  NP_058681.11 
     713647605 
    chicken
    (Gallus gallus)
    Aves MTMR11 myotubularin related protein 1 78.82(n)
    87.39(a)
      422387  XM_420356.3  XP_420356.2 
    lizard
    (Anolis carolinensis)
    Reptilia MTMR16
    myotubularin related protein 1
    80(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 mtmr1a1 myotubularin related protein 1a 70.01(n)
    72.88(a)
      553750  NM_001020721.1  NP_001018557.1 
    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)
    About This Section
    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

    MTMR1 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

    10/952 SNPs in MTMR1 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300171    OMIM disorders: --

    7 diseases for MTMR1:    About MalaCards
    myotonic dystrophy type 2    myotonic dystrophy type 1    myotonic dystrophy    centronuclear myopathy
    tooth disease    charcot-marie-tooth disease    myopathy

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

    MTMR1 for disorders           About GeneDecksing


    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)
    About This Section

    PubMed articles for MTMR1 gene, integrated from 9 sources (see all 21):
    (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. (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. (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. (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. (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. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Analysis of MTMR1 expression and correlation with mus cle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM 1) and in myotonic dystrophy type 2 (DM2). (PubMed id 20685272)1 Santoro M....Silvestri G. (2010)
    10. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)

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

      Query String
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    OMIM
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      (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: 8776 HGNC: 7449 AceView: MTMR1 Ensembl:ENSG00000063601 euGenes: HUgn8776
    ECgene: MTMR1 Kegg: 8776 H-InvDB: MTMR1

    (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 MTMR1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for 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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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