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

Gene ID: 17772, updated on 5-Aug-2018

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 Vega:OTTMUSG00000017829
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; AF073996; mKIAA4176
Expression
Ubiquitous expression in large intestine adult (RPKM 2.8), placenta adult (RPKM 2.7) and 28 other tissues See more
Orthologs

Genomic context

See Mtm1 in Genome Data Viewer
Location:
X A7.3; X 36.55 cM
Exon count:
18
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) X NC_000086.7 (71210767..71315413)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) X NC_000086.6 (68463942..68568470)

Chromosome X - NC_000086.7Genomic Context describing neighboring genes Neighboring gene mastermind-like domain containing 1 Neighboring gene predicted gene 14730 Neighboring gene myotubularin related protein 1 Neighboring gene CD99 antigen-like 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Variation

Alleles

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA4176

Gene Ontology Provided by MGI

Function Evidence Code Pubs
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
intermediate filament binding ISO
Inferred from Sequence Orthology
more info
 
phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol binding ISO
Inferred from Sequence Orthology
more info
 
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity ISO
Inferred from Sequence Orthology
more info
 
phosphatidylinositol-3-phosphatase activity ISO
Inferred from Sequence Orthology
more info
 
phosphoprotein phosphatase activity ISO
Inferred from Sequence Orthology
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
endosome to lysosome transport ISO
Inferred from Sequence Orthology
more info
 
intermediate filament organization ISO
Inferred from Sequence Orthology
more info
 
lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
mitochondrion distribution IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion distribution ISO
Inferred from Sequence Orthology
more info
 
mitochondrion morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion morphogenesis ISO
Inferred from Sequence Orthology
more info
 
muscle cell cellular homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of autophagosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein kinase B signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphatidylinositol dephosphorylation ISO
Inferred from Sequence Orthology
more info
 
positive regulation of skeletal muscle tissue growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein dephosphorylation ISO
Inferred from Sequence Orthology
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of vacuole organization ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
I band IDA
Inferred from Direct Assay
more info
PubMed 
cell projection IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISO
Inferred from Sequence Orthology
more info
 
cytosol ISO
Inferred from Sequence Orthology
more info
 
endosome IEA
Inferred from Electronic Annotation
more info
 
filopodium ISO
Inferred from Sequence Orthology
more info
 
late endosome ISO
Inferred from Sequence Orthology
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane ISO
Inferred from Sequence Orthology
more info
 
ruffle ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
myotubularin
Names
phosphatidylinositol-3,5-bisphosphate 3-phosphatase
phosphatidylinositol-3-phosphate phosphatase
NP_001157662.1
NP_001157663.1
NP_001157664.1
NP_001157665.1
NP_064310.2
XP_006527953.1
XP_006527954.1
XP_017173905.1

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001164190.1NP_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).
    Source sequence(s)
    AK016445, AL772294, BC090984
    Consensus CDS
    CCDS30177.1
    UniProtKB/Swiss-Prot
    Q9Z2C5
    UniProtKB/TrEMBL
    Q9D4L1
    Related
    ENSMUSP00000125798.1, ENSMUST00000171933.7
    Conserved Domains (2) summary
    pfam06602
    Location:150483
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:44143
    PH-like; Pleckstrin homology-like domain
  2. NM_001164191.1NP_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. Both variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AK149997, AL772294, BC090984
    Consensus CDS
    CCDS30177.1
    UniProtKB/Swiss-Prot
    Q9Z2C5
    UniProtKB/TrEMBL
    Q3UDN6
    Related
    ENSMUSP00000057182.5, ENSMUST00000061970.11
    Conserved Domains (2) summary
    pfam06602
    Location:150483
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:44143
    PH-like; Pleckstrin homology-like domain
  3. NM_001164192.1NP_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)
    AK149997, AK171475, AL772294, BC090984
    Consensus CDS
    CCDS53090.1
    UniProtKB/Swiss-Prot
    Q9Z2C5
    UniProtKB/TrEMBL
    B1AW21, Q3UDN6
    Related
    ENSMUSP00000025391.4, ENSMUST00000025391.10
    Conserved Domains (2) summary
    pfam06602
    Location:150452
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:44143
    PH-like; Pleckstrin homology-like domain
  4. NM_001164193.1NP_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)
    AK149997
    Consensus CDS
    CCDS53089.1
    UniProtKB/TrEMBL
    Q3UDN6
    Related
    ENSMUSP00000099040.3, OTTMUSP00000019437, ENSMUST00000101501.9, OTTMUST00000043207
    Conserved Domains (1) summary
    cl17171
    Location:44143
    PH-like; Pleckstrin homology-like domain
  5. NM_001358113.1NP_001345042.1  myotubularin isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL731843, AL772294
    Conserved Domains (1) summary
    pfam06602
    Location:41353
    Myotub-related; Myotubularin-like phosphatase domain
  6. NM_019926.4NP_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. Both variants 1 and 3 encode the same protein (isoform 1).
    Source sequence(s)
    AK166759, AL731843, AL772294, BC090984
    Consensus CDS
    CCDS30177.1
    UniProtKB/Swiss-Prot
    Q9Z2C5
    Related
    ENSMUSP00000110264.1, OTTMUSP00000019421, ENSMUST00000114617.1
    Conserved Domains (2) summary
    pfam06602
    Location:150483
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:44143
    PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000086.7 Reference GRCm38.p4 C57BL/6J

    Range
    71210767..71315413
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006527890.1XP_006527953.1  myotubularin isoform X1

    Conserved Domains (2) summary
    pfam06602
    Location:150483
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:44143
    PH-like; Pleckstrin homology-like domain
  2. XM_017318416.1XP_017173905.1  myotubularin isoform X3

    Conserved Domains (1) summary
    pfam06602
    Location:41353
    Myotub-related; Myotubularin-like phosphatase domain
  3. XM_006527891.1XP_006527954.1  myotubularin isoform X2

    Conserved Domains (2) summary
    pfam06602
    Location:55388
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:148
    PH-like; Pleckstrin homology-like domain
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