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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

HCOP human homology predictions: MTM1
Gene Tree: Mtm1

Human
homologs
MTM1, myotubularin 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 4534
neXtProt AC: NX_Q13496

Human Synonyms: CNM, MTMX, XLMTM

Human Chr (Location): Xq28; chrX:150562658-150673143 (+)  GRCh38.p2

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 in Mice Using Mtm1 (1)    Mutations 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase mtm1 ; ZFIN mtm1    NEW 
Molecular
reagents
All nucleic(11) cDNA(11)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000017829 (Evidence)
Ensembl Gene Model ENSMUSG00000031337 (Evidence)
Entrez Gene 17772 (Evidence)
DFCI TC1580326, TC1620842
DoTS DT.99856399, DT.97389889, DT.97340458, DT.101172245, DT.94189008, DT.101228803, DT.485902, DT.101367897
NIA Mouse Gene Index U019915
EC 3.1.3.95, 3.1.3.64
Consensus CDS Project CCDS30177.1, CCDS53089.1, CCDS53090.1
International Mouse Phenotyping Consortium Status Mtm1
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(81) RefSeq(16) UniProt(6)
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:213528 Childers MK, et al., Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy. Sci Transl Med. 2014 Jan 22;6(220):220ra10
All references(57)
Disease annotation references (3)
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
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory