• Gene id: 4534

Gene Summary

• Gene Symbol: MTM1   Gene   UCSC   Ensembl
• Aliases: CNM, MTMX, XLMTM
• Gene name: myotubularin 1
• Alternate names: myotubularin, phosphatidylinositol-3,5-bisphosphate 3-phosphatase, phosphatidylinositol-3-phosphate phosphatase,
• Gene location: Xq28 (141636582: 141733986)     Exons: 10     NC_000004.12
• Gene summary(Entrez): 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. [pr
• OMIM: 300415

Protein Summary

• Protein general information: Q13496  
  • Name: Myotubularin (Phosphatidylinositol 3,5 bisphosphate 3 phosphatase) (EC 3.1.3.95) (Phosphatidylinositol 3 phosphate phosphatase) (EC 3.1.3.64)
  • Length: 603  
  • Mass: 69932
• Sequence:

  MASASTSKYNSHSLENESIKRTSRDGVNRDLTEAVPRLPGETLITDKEVIYICPFNGPIKGRVYITNYRLYLRSL
  ETDSSLILDVPLGVISRIEKMGGATSRGENSYGLDITCKDMRNLRFALKQEGHSRRDMFEILTRYAFPLAHSLPL
  FAFLNEEKFNVDGWTVYNPVEEYRRQGLPNHHWRITFINKCYELCDTYPALLVVPYRASDDDLRRVATFRSRNRI
  PVLSWIHPENKTVIVRCSQPLVGMSGKRNKDDEKYLDVIRETNKQISKLTIYDARPSVNAVANKATGGGYESDDA
  YHNAELFFLDIHNIHVMRESLKKVKDIVYPNVEESHWLSSLESTHWLEHIKLVLTGAIQVADKVSSGKSSVLVHC
  SDGWDRTAQLTSLAMLMLDSFYRSIEGFEILVQKEWISFGHKFASRIGHGDKNHTDADRSPIFLQFIDCVWQMSK
  QFPTAFEFNEQFLIIILDHLYSCRFGTFLFNCESARERQKVTERTVSLWSLINSNKEKFKNPFYTKEINRVLYPV
  ASMRHLELWVNYYIRWNPRIKQQQPNPVEQRYMELLALRDEYIKRLEELQLANSAKLSDPPTSPSSPSQMMPHVQ
  THF

• Structural information:
  • Protein Domains: (29..9-)
    (/note="GRAM-)
    (163..53-)
    (/note="Myotubularin-phosphatase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00669"-)
  • Interpro: IPR004182  IPR030561  IPR010569  IPR030564  IPR011993   IPR029021  IPR016130  IPR003595  IPR000387  
  • Prosite: PS51339 PS00383 PS50056
  • DIP: 61934
  • STRING: ENSP00000359423
• Other Databases: GeneCards:  MTM1  Malacards:  MTM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070584	mitochondrion morphogenesis	IBA	biological process
GO:0052629	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IBA	molecular function
GO:0046716	muscle cell cellular homeostasis	IBA	biological process
GO:1902902	negative regulation of autophagosome assembly	IBA	biological process
GO:0048311	mitochondrion distribution	IBA	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0004438	phosphatidylinositol-3-phosphatase activity	IBA	molecular function
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0008333	endosome to lysosome transport	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0044088	regulation of vacuole organization	IEA	biological process
GO:0045109	intermediate filament organization	IEA	biological process
GO:0046716	muscle cell cellular homeostasis	IEA	biological process
GO:0052629	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IEA	molecular function
GO:0004438	phosphatidylinositol-3-phosphatase activity	IEA	molecular function
GO:0016791	phosphatase activity	IEA	molecular function
GO:0046856	phosphatidylinositol dephosphorylation	IEA	biological process
GO:0048311	mitochondrion distribution	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0052629	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IEA	molecular function
GO:0004438	phosphatidylinositol-3-phosphatase activity	IEA	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031674	I band	IEA	cellular component
GO:0032435	negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0046716	muscle cell cellular homeostasis	IEA	biological process
GO:0048633	positive regulation of skeletal muscle tissue growth	IEA	biological process
GO:0070584	mitochondrion morphogenesis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0032007	negative regulation of TOR signaling	IEA	biological process
GO:0048311	mitochondrion distribution	IEA	biological process
GO:0051898	negative regulation of protein kinase B signaling	IEA	biological process
GO:1902902	negative regulation of autophagosome assembly	IEA	biological process
GO:0001726	ruffle	IEA	cellular component
GO:0030175	filopodium	IEA	cellular component
GO:0030017	sarcomere	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0070584	mitochondrion morphogenesis	IDA	biological process
GO:0044088	regulation of vacuole organization	IDA	biological process
GO:0004721	phosphoprotein phosphatase activity	IDA	molecular function
GO:0001726	ruffle	IDA	cellular component
GO:0046856	phosphatidylinositol dephosphorylation	IDA	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IDA	biological process
GO:0035091	phosphatidylinositol binding	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0052629	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IDA	molecular function
GO:0030175	filopodium	IDA	cellular component
GO:0008333	endosome to lysosome transport	IDA	biological process
GO:0006470	protein dephosphorylation	IDA	biological process
GO:0019215	intermediate filament binding	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0004438	phosphatidylinositol-3-phosphatase activity	IDA	molecular function
GO:0045109	intermediate filament organization	IMP	biological process
GO:0048311	mitochondrion distribution	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04070	Phosphatidylinositol signaling system
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Centronuclear myopathy	KEGG:H00700
Centronuclear myopathy	KEGG:H00700
Congenital structural myopathy	PMID:8640223
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray