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Aliases for MTM1 Gene

Aliases for MTM1 Gene

  • Myotubularin 1 2 3 5
  • Phosphatidylinositol-3,5-Bisphosphate 3-Phosphatase 3 4
  • Phosphatidylinositol-3-Phosphate Phosphatase 3 4
  • Myotubular Myopathy 1 2
  • Myotubularin 3
  • EC 3.1.3.48 61
  • EC 3.1.3.95 4
  • EC 3.1.3.64 4
  • XLMTM 3
  • MTMX 3
  • CNM 3
  • CG2 4

External Ids for MTM1 Gene

Previous GeneCards Identifiers for MTM1 Gene

  • GC0XP144039
  • GC0XP146420
  • GC0XP147508
  • GC0XP148378
  • GC0XP148379
  • GC0XP149407
  • GC0XP149487
  • GC0XP149738
  • GC0XP138597

Summaries for MTM1 Gene

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 Myotubular Myopathy, X-Linked and Myopathy. Among its related pathways are Glycerophospholipid biosynthesis and Inositol phosphate metabolism (KEGG). GO annotations related to this gene include phosphatase activity and phosphatidylinositol binding. An important paralog of this gene is MTMR2.

UniProtKB/Swiss-Prot for MTM1 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTM1 Gene

Genomics for MTM1 Gene

Regulatory Elements for MTM1 Gene

Enhancers for MTM1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around MTM1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MTM1 Gene

Chromosome:
X
Start:
150,562,658 bp from pter
End:
150,673,322 bp from pter
Size:
110,665 bases
Orientation:
Plus strand

Genomic View for MTM1 Gene

Genes around MTM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTM1 Gene

Proteins for MTM1 Gene

  • Protein details for MTM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13496-MTM1_HUMAN
    Recommended name:
    Myotubularin
    Protein Accession:
    Q13496
    Secondary Accessions:
    • A6NDB1
    • B7Z491
    • F2Z330
    • Q8NEL1

    Protein attributes for MTM1 Gene

    Size:
    603 amino acids
    Molecular mass:
    69932 Da
    Quaternary structure:
    • 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. Interacts with SPEG.

    Alternative splice isoforms for MTM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTM1 Gene

Post-translational modifications for MTM1 Gene

  • Ubiquitination at Lys 190
  • Modification sites at PhosphoSitePlus

Other Protein References for MTM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MTM1 Gene

Gene Families for MTM1 Gene

Graphical View of Domain Structure for InterPro Entry

Q13496

UniProtKB/Swiss-Prot:

MTM1_HUMAN :
  • The GRAM domain mediates binding to PI(3,5)P2 and, with lower affinity, to other phosphoinositides.
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
Domain:
  • The GRAM domain mediates binding to PI(3,5)P2 and, with lower affinity, to other phosphoinositides.
  • Contains 1 GRAM domain.
  • Contains 1 myotubularin phosphatase domain.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
genes like me logo Genes that share domains with MTM1: view

Function for MTM1 Gene

Molecular function for MTM1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=39 uM for PI3P {ECO:0000269 PubMed:14722070}; KM=17 uM for PI(3,5)P2 {ECO:0000269 PubMed:14722070};
UniProtKB/Swiss-Prot CatalyticActivity:
1-phosphatidyl-1D-myo-inositol 3-phosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol + phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 5-phosphate + phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Allosterically activated by phosphatidylinositol 5-phosphate (PI5P).
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for MTM1 Gene

Gene Ontology (GO) - Molecular Function for MTM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004438 phosphatidylinositol-3-phosphatase activity TAS --
GO:0004721 phosphoprotein phosphatase activity IDA 9537414
GO:0004725 protein tyrosine phosphatase activity IEA --
GO:0005515 protein binding IEA,IPI 12847286
GO:0019215 intermediate filament binding IDA 21135508
genes like me logo Genes that share ontologies with MTM1: view
genes like me logo Genes that share phenotypes with MTM1: view

Human Phenotype Ontology for MTM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MTM1 Gene

MGI Knock Outs for MTM1:

Animal Model Products

  • Taconic Biosciences Mouse Models for MTM1

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for MTM1 Gene

Localization for MTM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTM1 Gene

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. {ECO:0000269 PubMed:11001925, ECO:0000269 PubMed:12118066}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MTM1 Gene COMPARTMENTS Subcellular localization image for MTM1 gene
Compartment Confidence
cytosol 5
endosome 5
extracellular 5
plasma membrane 5
nucleus 2
vacuole 2
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MTM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IDA 12118066
GO:0005737 cytoplasm IEA,IDA 10900271
GO:0005770 late endosome IDA 14722070
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA 12118066
genes like me logo Genes that share ontologies with MTM1: view

Pathways & Interactions for MTM1 Gene

genes like me logo Genes that share pathways with MTM1: view

Gene Ontology (GO) - Biological Process for MTM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IDA 9537414
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0008333 endosome to lysosome transport IDA 14722070
GO:0015031 protein transport IEA --
GO:0032007 negative regulation of TOR signaling IEA --
genes like me logo Genes that share ontologies with MTM1: view

No data available for SIGNOR curated interactions for MTM1 Gene

Drugs & Compounds for MTM1 Gene

(4) Drugs for MTM1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(9) Additional Compounds for MTM1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1D-Myo-inositol 1,3-bisphosphate
  • D-Myo-Inositol 1,3-bisphosphate
  • Inositol 1,3-bisphosphate
  • Inositol 1,3-diphosphate
  • Inositol(1,3)bisphosphate
  • Myo-inositol 1,3-bis(dihydrogen phosphate)
103597-56-4
Inositol phosphate
  • 1D-Myo-Inositol 1-monophosphate
  • 1D-Myo-Inositol 1-phosphate
  • D-Myo-Inositol-1-Phosphate
  • Inositol 1-monophosphate
15421-51-9
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with MTM1: view

Transcripts for MTM1 Gene

Unigene Clusters for MTM1 Gene

Myotubularin 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTM1 Gene

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: - - -

Relevant External Links for MTM1 Gene

GeneLoc Exon Structure for
MTM1
ECgene alternative splicing isoforms for
MTM1

Expression for MTM1 Gene

mRNA expression in normal human tissues for MTM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MTM1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.9), Cervix (7.5), and Platelet (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MTM1 Gene



Protein tissue co-expression partners for MTM1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MTM1 Gene:

MTM1

SOURCE GeneReport for Unigene cluster for MTM1 Gene:

Hs.655056
genes like me logo Genes that share expression patterns with MTM1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MTM1 Gene

Orthologs for MTM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MTM1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MTM1 34
  • 89.61 (n)
  • 95.02 (a)
MTM1 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MTM1 34
  • 91.98 (n)
  • 96.19 (a)
MTM1 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mtm1 34
  • 88.83 (n)
  • 92.04 (a)
Mtm1 16
Mtm1 35
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MTM1 34
  • 98.92 (n)
  • 98.62 (a)
rat
(Rattus norvegicus)
Mammalia Mtm1 34
  • 76.25 (n)
  • 82.1 (a)
oppossum
(Monodelphis domestica)
Mammalia MTM1 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTM1 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTM1 34
  • 76.95 (n)
  • 82.75 (a)
MTM1 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtm1 34
  • 73.15 (n)
  • 79.07 (a)
zebrafish
(Danio rerio)
Actinopterygii mtm1 34
  • 67.94 (n)
  • 73.38 (a)
mtm1 35
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta myotubularin 36
  • 56 (a)
mtm 35
  • 52 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T24A11.1a 36
  • 37 (a)
T24A11.1b 36
  • 37 (a)
Y110A7A.5 36
  • 45 (a)
mtm-1 34
  • 53.89 (n)
  • 47.29 (a)
mtm-1 35
  • 42 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5340 35
  • 56 (a)
OneToMany
Species where no ortholog for MTM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MTM1 Gene

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

Paralogs for MTM1 Gene

Paralogs for MTM1 Gene

(9) SIMAP similar genes for MTM1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with MTM1: view

Variants for MTM1 Gene

Sequence variations from dbSNP and Humsavar for MTM1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs132630304 Myopathy, centronuclear, X-linked (CNMX) 150,598,660(+) ATTAT(C/G/T)GTCTT reference, missense
rs587783809 Myopathy, centronuclear, X-linked (CNMX) 150,598,663(+) ATCGT(C/T)TTTAT reference, missense
rs587783816 Myopathy, centronuclear, X-linked (CNMX) 150,614,617(+) TCCTC(C/T)GGGTG reference, missense
rs587783835 Myopathy, centronuclear, X-linked (CNMX) 150,641,290(+) ATTGG(A/G)GAATA reference, missense
rs132630302 Myopathy, centronuclear, X-linked (CNMX) 150,641,306(+) TATTA(A/G)TAAGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MTM1 Gene

Variant ID Type Subtype PubMed ID
esv3574978 CNV loss 25503493
esv3577528 CNV gain 25503493
nsv1077246 CNV deletion 25765185
nsv508810 CNV insertion 20534489
nsv508811 CNV insertion 20534489
nsv520338 CNV loss 19592680
nsv7149 CNV insertion 18451855

Variation tolerance for MTM1 Gene

Residual Variation Intolerance Score: 29.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.60; 12.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTM1 Gene

Human Gene Mutation Database (HGMD)
MTM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTM1 Gene

Disorders for MTM1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for MTM1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myotubular myopathy, x-linked
  • myopathy, centronuclear, x-linked
myopathy
  • muscular diseases
myotubular myopathy with abnormal genital development
  • x-linked myotubular myopathy-abnormal genitalia syndrome
myopathy, centronuclear
  • centronuclear myopathy, autosomal, modifier of
charcot-marie-tooth disease, type 4b2
  • charcot-marie-tooth disease type 4b2
- elite association - COSMIC cancer census association via MalaCards
Search MTM1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MTM1_HUMAN
  • 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. {ECO:0000269 PubMed:10063835, ECO:0000269 PubMed:10466421, ECO:0000269 PubMed:10502779, ECO:0000269 PubMed:11793470, ECO:0000269 PubMed:12031625, ECO:0000269 PubMed:12522554, ECO:0000269 PubMed:12859411, ECO:0000269 PubMed:17005396, ECO:0000269 PubMed:19129059, ECO:0000269 PubMed:9285787, ECO:0000269 PubMed:9305655, ECO:0000269 PubMed:9829274}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for MTM1 Gene

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

Relevant External Links for MTM1

Genetic Association Database (GAD)
MTM1
Human Genome Epidemiology (HuGE) Navigator
MTM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTM1
genes like me logo Genes that share disorders with MTM1: view

Publications for MTM1 Gene

  1. Mutational analysis of mononucleotide repeats in dual specificity tyrosine phosphatase genes in gastric and colon carcinomas with microsatellite instability. (PMID: 20477815) Song S.Y. … Lee S.H. (APMIS 2010) 3 22 46 65
  2. X-linked myotubular myopathy with a novel MTM1 mutation in a Taiwanese child. (PMID: 19129059) Chang C.Y. … Su Y.N. (J. Formos. Med. Assoc. 2008) 3 4 22 65
  3. Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction. (PMID: 14722070) Tsujita K. … Takenawa T. (J. Biol. Chem. 2004) 3 4 22 65
  4. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. (PMID: 12522554) Biancalana V. … Mandel J.-L. (Hum. Genet. 2003) 3 4 22 65
  5. Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases. (PMID: 12646134) Schaletzky J. … Barr F.A. (Curr. Biol. 2003) 3 4 22 65

Products for MTM1 Gene

Sources for MTM1 Gene

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