Mtm1 X-linked myotubular myopathy gene 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mtm1provided by MGI
Official Full Name: X-linked myotubular myopathy gene 1provided by MGI
Primary source: MGI:MGI:1099452
See related: Ensembl:ENSMUSG00000031337 AllianceGenome:MGI:1099452
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Mtm; mKIAA4176
Summary: Predicted to enable intermediate filament binding activity; phosphatase activity; and phosphatidylinositol binding activity. Involved in mitochondrion distribution; mitochondrion morphogenesis; and muscle cell cellular homeostasis. Acts upstream of or within negative regulation of cellular catabolic process; negative regulation of intracellular signal transduction; and positive regulation of skeletal muscle tissue growth. Located in I band. Is expressed in trunk unsegmented mesenchyme. Used to study centronuclear myopathy. Human ortholog(s) of this gene implicated in centronuclear myopathy X-linked and congenital structural myopathy. Orthologous to human MTM1 (myotubularin 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in large intestine adult (RPKM 2.8), placenta adult (RPKM 2.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A7.2- A7.3; X 36.55 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (70254373..70359019)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (71210767..71315413)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in Cardiomyocytes.
Title: BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in Cardiomyocytes.
Disrupted T-tubular network accounts for asynchronous calcium release in MTM1-deficient skeletal muscle.
Title: Disrupted T-tubular network accounts for asynchronous calcium release in MTM1-deficient skeletal muscle.
Expression of several MTMR2 isoforms ameliorates the myopathic phenotype owing to MTM1 loss, with increased muscle force, reduced myofiber atrophy, and reduction of the intracellular disorganization hallmarks associated with myotubular myopathy.
Title: Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.
deletion of MTM1 in mouse had no significant effect on platelet count and on platelet secretion and aggregation induced by thrombin or collagen stimulation.
Title: Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy.
Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1
Title: Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice.
MTM1 interacts with BIN1 in skeletal muscle.
Title: The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies.
Data show that the IGF1R/Akt pathway is affected in phosphoinositide phosphatase myotubularin (MTM1)-deficient muscles.
Title: Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways.
Deletion of the Mtm1 gene in a mature muscle reproduces the pathological hallmarks of myotubular myopathy.
Title: Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle.
study reveal a direct function of MTM1 enzymatic activity in SR remodeling and a key role for PtdIns3P in promoting SR membrane curvature in skeletal muscle.
Title: Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo.
aberrant mTORC1 signaling and impaired autophagy are consequences of the loss of Mtm1
Title: Defective autophagy and mTORC1 signaling in myotubularin null mice.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1) 1 citation
Gene trapped (1) 1 citation
Targeted (4) 1 citation
Endonuclease-mediated (5)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AF073996 (e-PCR)
- UniSTS:163619

Rara (e-PCR), detects polymorphism
- UniSTS:144323

NoName (e-PCR)
- UniSTS:238033

RH125464 (e-PCR)
- UniSTS:162283

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables intermediate filament binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3-phosphate phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3-phosphate phosphatase activity	ISO Inferred from Sequence Orthology more info
enables phosphoprotein phosphatase activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of autophagosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dephosphorylation	IEA Inferred from Electronic Annotation more info
involved_in endosome to lysosome transport	ISO Inferred from Sequence Orthology more info
involved_in intermediate filament organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in mitochondrion distribution	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mitochondrion distribution	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrion distribution	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrion distribution	ISO Inferred from Sequence Orthology more info
involved_in mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrion organization	ISO Inferred from Sequence Orthology more info
involved_in muscle cell cellular homeostasis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within muscle cell cellular homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in muscle cell cellular homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of autophagosome assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of autophagosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphatidylinositol dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylinositol dephosphorylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of skeletal muscle tissue growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of proteasome-mediated ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein dephosphorylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of vacuole organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of skeletal muscle tissue growth	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in I band	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in filopodium	ISO Inferred from Sequence Orthology more info
located_in late endosome	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in ruffle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: myotubularin

Names: phosphatidylinositol-3,5-bisphosphate 3-phosphatase; phosphatidylinositol-3-phosphate phosphatase

NP_001157662.1

EC 3.1.3.64

EC 3.1.3.95

NP_001157663.1

EC 3.1.3.64

EC 3.1.3.95

NP_001157664.1

EC 3.1.3.64

EC 3.1.3.95

NP_001157665.1

EC 3.1.3.64

EC 3.1.3.95

NP_001412847.1

EC 3.1.3.64

EC 3.1.3.95

NP_001412848.1

EC 3.1.3.64

EC 3.1.3.95

NP_001412849.1

EC 3.1.3.64

EC 3.1.3.95

NP_001412850.1

EC 3.1.3.64

EC 3.1.3.95

NP_064310.2

EC 3.1.3.64

EC 3.1.3.95

XP_006527953.1

EC 3.1.3.64

EC 3.1.3.95

XP_030107106.1

EC 3.1.3.64

EC 3.1.3.95

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001164190.2 → NP_001157662.1 myotubularin isoform 1

See identical proteins and their annotated locations for NP_001157662.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1-3 all encode the same isoform (1).

Source sequence(s)

AL731843, AL772294

Consensus CDS

CCDS30177.1

UniProtKB/Swiss-Prot

Q5BKQ5, Q9Z2C5

UniProtKB/TrEMBL

Q9D4L1

Related

ENSMUSP00000125798.2, ENSMUST00000171933.8

Conserved Domains (2) summary

pfam06602
Location:150 → 483

Myotub-related; Myotubularin-like phosphatase domain

cl17171
Location:44 → 143

PH-like; Pleckstrin homology-like domain
NM_001164191.2 → NP_001157663.1 myotubularin isoform 1

See identical proteins and their annotated locations for NP_001157663.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-3 all encode the same isoform (1).

Source sequence(s)

AL731843, AL772294

Consensus CDS

CCDS30177.1

UniProtKB/Swiss-Prot

Q5BKQ5, Q9Z2C5

UniProtKB/TrEMBL

Q9D4L1

Related

ENSMUSP00000057182.6, ENSMUST00000061970.12

Conserved Domains (2) summary

pfam06602
Location:150 → 483

Myotub-related; Myotubularin-like phosphatase domain

cl17171
Location:44 → 143

PH-like; Pleckstrin homology-like domain
NM_001164192.2 → NP_001157664.1 myotubularin isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AL731843, AL772294

Consensus CDS

CCDS53090.1

UniProtKB/TrEMBL

B1AW21, Q9D4L1

Related

ENSMUSP00000025391.5, ENSMUST00000025391.11

Conserved Domains (2) summary

pfam06602
Location:150 → 452

Myotub-related; Myotubularin-like phosphatase domain

cl17171
Location:44 → 143

PH-like; Pleckstrin homology-like domain
NM_001164193.2 → NP_001157665.1 myotubularin isoform 3

See identical proteins and their annotated locations for NP_001157665.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 3, which has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AL731843

Consensus CDS

CCDS53089.1

UniProtKB/TrEMBL

Q3UDN6

Related

ENSMUSP00000099040.4, ENSMUST00000101501.10

Conserved Domains (1) summary

cl17171
Location:44 → 143

PH-like; Pleckstrin homology-like domain
NM_001425918.1 → NP_001412847.1 myotubularin isoform 5

Status: VALIDATED

Source sequence(s)

AL731843
NM_001425919.1 → NP_001412848.1 myotubularin isoform 6

Status: VALIDATED

Source sequence(s)

AL731843, AL772294
NM_001425920.1 → NP_001412849.1 myotubularin isoform 7

Status: VALIDATED

Source sequence(s)

AL731843, AL772294
NM_001425921.1 → NP_001412850.1 myotubularin isoform 8

Status: VALIDATED

Source sequence(s)

AL731843, AL772294
NM_019926.5 → NP_064310.2 myotubularin isoform 1

See identical proteins and their annotated locations for NP_064310.2

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-3 all encode the same isoform (1).

Source sequence(s)

AL731843, AL772294

Consensus CDS

CCDS30177.1

UniProtKB/Swiss-Prot

Q5BKQ5, Q9Z2C5

UniProtKB/TrEMBL

Q9D4L1

Related

ENSMUSP00000110264.2, ENSMUST00000114617.2

Conserved Domains (2) summary

pfam06602
Location:150 → 483

Myotub-related; Myotubularin-like phosphatase domain

cl17171
Location:44 → 143

PH-like; Pleckstrin homology-like domain

RNA

NR_189633.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL731843, AL772294
NR_189634.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL731843, AL772294

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000086.8 Reference GRCm39 C57BL/6J

Range

70254373..70359019

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006527890.2 → XP_006527953.1 myotubularin isoform X2

UniProtKB/TrEMBL

Q9D4L1

Conserved Domains (2) summary

pfam06602
Location:151 → 488

Myotub-related; Myotubularin-like phosphatase domain

cl17171
Location:44 → 143

PH-like; Pleckstrin homology-like domain
XM_030251246.1 → XP_030107106.1 myotubularin isoform X4

UniProtKB/TrEMBL

Q5DTJ6

Conserved Domains (1) summary

pfam06602
Location:41 → 352

Myotub-related; Myotubularin-like phosphatase domain