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Mtm1
Gene Detail
Symbol

Name
ID
Mtm1
X-linked myotubular myopathy gene 1
MGI:1099452
Feature Type
protein coding gene
Genetic Map
Chromosome X
36.55 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
ChrX:71215006-71315691 bp, + strand
From VEGA annotation of GRCm38

  100686 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37279  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Mtm1

Human
homologs
Human Homolog MTM1, myotubularin 1
NCBI Gene ID 4534
neXtProt AC  NX_Q13496
Human Synonyms  CNM, MTMX, XLMTM
Human Chr (Location)  Xq28; chrX:150562653-150673143 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human MTM1
Mutations,
alleles, and
phenotypes
All mutations/alleles(28) : Gene trapped(21) Spontaneous(1) Targeted(6)
 
Hemizygotes for targeted null mutations develop a generalized, progressive myopathy beginning around 1 month and leading to death at 6-14 weeks of age. Mutant mice show amyotrophy with accumulation of central nuclei in skeletal muscle fibers.
 
Human Diseases Modeled Using Mouse Mtm1 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(3)
Interactions
Mtm1 interacts with 273 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (37 annotations)
Process dephosphorylation, endosome to lysosome transport, ...
Component cell, cell projection, ...
Function hydrolase activity, intermediate filament binding, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (1)    Tissues (1)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 1
cDNA source data(7)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(11) cDNA(11)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000017829 (Evidence)
Ensembl Gene ModelENSMUSG00000031337 (Evidence)
Entrez Gene17772 (Evidence)
DFCITC1620842, TC1580326
DoTSDT.101228803, DT.97389889, DT.97340458, DT.94189008, DT.99856399, DT.101367897, DT.101172245, DT.485902
NIA Mouse Gene IndexU019915
EC3.1.3.95, 3.1.3.64
Consensus CDS ProjectCCDS30177.1, CCDS53089.1, CCDS53090.1
International Mouse Knockout Project StatusMtm1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017829 VEGA Gene Model | MGI Sequence Detail 100686 C57BL/6J ±  kb
transcript OTTMUST00000043169 VEGA | MGI Sequence Detail 3338 Not Applicable 
polypeptide OTTMUSP00000019421 VEGA | MGI Sequence Detail 603 Not Applicable 

For the selected sequences
All sequences(86) RefSeq(16) UniProt(11)
Polymorphisms
SNPs within 2kb(400 from dbSNP Build 137)    SNPs within 2kb including multiple locations(412)
Protein-related
information
ResourceIDDescription
InterPro IPR004182 GRAM
InterPro IPR010569 Myotubularin-related
InterPro IPR011993 Pleckstrin homology-like domain
InterPro IPR000387 Protein-tyrosine/Dual specificity phosphatase
InterPro IPR016130 Protein-tyrosine phosphatase, active site
Protein Ontology PR:000010730 myotubularin
References
(Earliest) J:62647 Laporte J, et al., Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Hum Mol Genet. 1998 Oct;7(11):1703-12
(Latest) J:210955 Lawlor MW, et al., Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice. Am J Pathol. 2014 Jun;184(6):1831-42
All references(58)
Disease annotation references (2)
Other
accession IDs
MGI:2147839

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/11/2014
MGI 5.20
The Jackson Laboratory