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Aliases for MTM1 Gene

Aliases for MTM1 Gene

  • Myotubularin 1 2 3
  • Phosphatidylinositol-3,5-Bisphosphate 3-Phosphatase 3 4
  • Phosphatidylinositol-3-Phosphate Phosphatase 3 4
  • MTMX 3 6
  • Myotubular Myopathy 1 2
  • Myotubularin 3
  • EC 3.1.3.48 63
  • EC 3.1.3.95 4
  • EC 3.1.3.64 4
  • XLMTM 3
  • CNM 3
  • CG2 4

External Ids for MTM1 Gene

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 charcot-marie-tooth neuropathy type 4b2. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein tyrosine phosphatase activity and phosphoprotein phosphatase activity. 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

Genomic Location for MTM1 Gene

Start:
150,562,653 bp from pter
End:
150,673,322 bp from pter
Size:
110,670 bases
Orientation:
Plus strand

Genomic View for MTM1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MTM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTM1 Gene

No data available for Regulatory Elements 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

Proteomics data for MTM1 Gene at MOPED

Post-translational modifications for MTM1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys190

Other Protein References for MTM1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for MTM1 Gene

Gene Families for MTM1 Gene

HGNC:
  • DUSPM :Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins

Graphical View of Domain Structure for InterPro Entry

Q13496

UniProtKB/Swiss-Prot:

MTM1_HUMAN
Domain:
  • The GRAM domain mediates binding to PI(3,5)P2 and, with lower affinity, to other phosphoinositides:
    • Q13496
  • Contains 1 GRAM domain.:
    • Q13496
  • Contains 1 myotubularin phosphatase domain.:
    • Q13496
Family:
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.:
    • Q13496
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 IDA 10900271
GO:0004721 phosphoprotein phosphatase activity IDA 9537414
GO:0004725 protein tyrosine phosphatase activity IEA --
GO:0005515 protein binding IPI 12847286
GO:0016791 phosphatase activity --
genes like me logo Genes that share ontologies with MTM1: view
genes like me logo Genes that share phenotypes with MTM1: view

Animal Models for MTM1 Gene

MGI Knock Outs for MTM1:

No data available for miRNA , Transcription Factor Targeting 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
endosome 5
plasma membrane 5
cytosol 4
cytoskeleton 2
nucleus 2
vacuole 2
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 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 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:0006644 phospholipid metabolic process TAS --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0008333 endosome to lysosome transport IDA 14722070
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with MTM1: view

Compounds for MTM1 Gene

(2) HMDB Compounds for MTM1 Gene

Compound Synonyms Cas Number PubMed IDs
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
7732-18-5

(8) Novoseek inferred chemical compound relationships for MTM1 Gene

Compound -log(P) Hits PubMed IDs
phosphatidylinositol 3-phosphate 93.2 33
ptdins(3)p 87.2 20
phosphoinositide 76 22
tyrosine 49.4 15
phosphatidylinositol 47.3 12
genes like me logo Genes that share compounds with MTM1: view

Transcripts for MTM1 Gene

Unigene Clusters for MTM1 Gene

Myotubularin 1:
Representative Sequences:

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MTM1 Gene

SOURCE GeneReport for Unigene cluster for MTM1 Gene Hs.655056

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

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
chimpanzee
(Pan troglodytes)
Mammalia MTM1 35
  • 98.92 (n)
  • 98.62 (a)
cow
(Bos Taurus)
Mammalia MTM1 35
  • 89.61 (n)
  • 95.02 (a)
MTM1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MTM1 35
  • 91.98 (n)
  • 96.19 (a)
MTM1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mtm1 35
  • 88.83 (n)
  • 92.04 (a)
Mtm1 16
Mtm1 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTM1 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTM1 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mtm1 35
  • 76.25 (n)
  • 82.1 (a)
chicken
(Gallus gallus)
Aves MTM1 35
  • 76.95 (n)
  • 82.75 (a)
MTM1 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtm1 35
  • 73.15 (n)
  • 79.07 (a)
zebrafish
(Danio rerio)
Actinopterygii mtm1 35
  • 67.94 (n)
  • 73.38 (a)
mtm1 36
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mtm 36
  • 52 (a)
OneToMany
myotubularin 37
  • 56 (a)
worm
(Caenorhabditis elegans)
Secernentea mtm-1 35
  • 53.89 (n)
  • 47.29 (a)
mtm-1 36
  • 42 (a)
OneToMany
T24A11.1a 37
  • 37 (a)
Y110A7A.5 37
  • 45 (a)
T24A11.1b 37
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5340 36
  • 56 (a)
OneToMany
Species with no ortholog for MTM1:
  • 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

Selected 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 MAF
rs83870 -- 150,609,220(+) ATCAG(A/G)TGTGC intron-variant
rs182630 -- 150,592,453(+) ACATA(C/G)AAACG intron-variant
rs222347 -- 150,600,033(+) CAGAC(C/T)CCGGT intron-variant
rs222348 -- 150,602,003(+) tcaga(A/T)cctac intron-variant
rs222355 -- 150,648,628(-) CTGCA(C/T)TCTGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv508810 CNV Insertion 20534489
nsv520338 CNV Loss 19592680
nsv7149 CNV Insertion 18451855
nsv508811 CNV Insertion 20534489

Relevant External Links for MTM1 Gene

HapMap Linkage Disequilibrium report
MTM1
Human Gene Mutation Database (HGMD)
MTM1
Locus Specific Mutation Databases (LSDB)
MTM1

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

Disorders for MTM1 Gene

(1) OMIM Diseases for MTM1 Gene (300415)

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.

(2) University of Copenhagen DISEASES for MTM1 Gene

(13) Novoseek inferred disease relationships for MTM1 Gene

Disease -log(P) Hits PubMed IDs
centronuclear myopathy 98.9 98
cmt4b 90.6 3
myopathy, congenital 86.2 4
charcot-marie-tooth disease 76.4 4
myopathy 75.8 11

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

GeneTests
MTM1
GeneReviews
MTM1
Genetic Association Database (GAD)
MTM1
Human Genome Epidemiology (HuGE) Navigator
MTM1
genes like me logo Genes that share disorders with MTM1: view

Publications for MTM1 Gene

  1. Association of SET domain and myotubularin-related proteins modulates growth control. (PMID: 9537414) Cui X. … Cleary M.L. (Nat. Genet. 1998) 3 4 23
  2. Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy. (PMID: 9781038) Laporte J. … Mandel J.-L. (Eur. J. Hum. Genet. 1998) 3 4 23
  3. MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy. (PMID: 9829274) Nishino I. … Nonaka I. (Neuromuscul. Disord. 1998) 3 4 23
  4. Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients. (PMID: 10063835) Tanner S.M. … Liechti-Gallati S. (Neuromuscul. Disord. 1999) 3 4 23
  5. Germline mosaicism in X-linked myotubular myopathy. (PMID: 10466421) Haene B.G. … Schwartz C.E. (Clin. Genet. 1999) 3 4 23

Products for MTM1 Gene

Sources for MTM1 Gene

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