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Identification
HMDB Protein ID HMDBP02745
Secondary Accession Numbers
  • 8250
Name Myotubularin
Synonyms Not Available
Gene Name MTM1
Protein Type Enzyme
Biological Properties
General Function Involved in phosphatase activity
Specific Function Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine-containing peptides. Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome. Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture. Plays a role in mitochondrial morphology and positioning. Required for skeletal muscle maintenance but not for myogenesis.
Pathways
  • Inositol phosphate metabolism
  • Phosphatidylinositol signaling system
Reactions
1-phosphatidyl-1D-myo-inositol 3-phosphate + Water → 1-phosphatidyl-1D-myo-inositol + Phosphoric acid details
1D-Myo-inositol 1,3-bisphosphate + Water → Inositol phosphate + Phosphoric acid details
1-Phosphatidyl-1D-myo-inositol 3-phosphate + Water → 1-Phosphatidyl-D-myo-inositol + Phosphoric acid details
1-Phosphatidyl-1D-myo-inositol 3,4-bisphosphate + Water → 1-Phosphatidyl-1D-myo-inositol 4-phosphate + Phosphoric acid details
GO Classification
Biological Process
small molecule metabolic process
mitochondrion morphogenesis
phosphatidylinositol biosynthetic process
protein transport
endosome to lysosome transport
intermediate filament organization
mitochondrion distribution
regulation of vacuole organization
phosphatidylinositol dephosphorylation
peptidyl-tyrosine dephosphorylation
Cellular Component
cytosol
filopodium
ruffle
plasma membrane
late endosome
Function
phosphoprotein phosphatase activity
protein tyrosine phosphatase activity
hydrolase activity, acting on ester bonds
catalytic activity
hydrolase activity
phosphoric ester hydrolase activity
phosphatase activity
Molecular Function
phosphoprotein phosphatase activity
intermediate filament binding
phosphatidylinositol binding
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity
phosphatidylinositol-3-phosphatase activity
protein tyrosine phosphatase activity
Process
phosphorus metabolic process
phosphate metabolic process
dephosphorylation
metabolic process
cellular metabolic process
Cellular Location
  1. Cytoplasmic
Gene Properties
Chromosome Location X
Locus Xq28
SNPs MTM1
Gene Sequence
>1812 bp
ATGGCTTCTGCATCAACTTCTAAATATAATTCACACTCCTTGGAGAATGAGTCTATTAAG
AGGACGTCTCGAGATGGAGTCAATCGAGATCTCACTGAGGCTGTTCCTCGACTTCCAGGA
GAAACACTAATCACTGACAAAGAAGTTATTTACATATGTCCTTTCAATGGCCCCATTAAG
GGAAGAGTTTACATCACAAATTATCGTCTTTATTTAAGAAGTTTGGAAACGGATTCTTCT
CTAATACTTGATGTTCCTCTGGGTGTGATCTCGAGAATTGAAAAAATGGGAGGCGCGACA
AGTAGAGGAGAAAATTCCTATGGTCTAGATATTACTTGTAAAGACATGAGAAACCTGAGG
TTCGCTTTGAAACAGGAAGGCCACAGCAGAAGAGATATGTTTGAGATCCTCACGAGATAC
GCGTTTCCCCTGGCTCACAGTCTGCCATTATTTGCATTTTTAAATGAAGAAAAGTTTAAC
GTGGATGGATGGACAGTTTACAATCCAGTGGAAGAATACAGGAGGCAGGGCTTGCCCAAT
CACCATTGGAGAATAACTTTTATTAATAAGTGCTATGAGCTCTGTGACACTTACCCTGCT
CTTTTGGTGGTTCCGTATCGTGCCTCAGATGATGACCTCCGGAGAGTTGCAACTTTTAGG
TCCCGAAATCGAATTCCAGTGCTGTCATGGATTCATCCAGAAAATAAGACGGTCATTGTG
CGTTGCAGTCAGCCTCTTGTCGGTATGAGTGGGAAACGAAATAAAGATGATGAGAAATAT
CTCGATGTTATCAGGGAGACTAATAAACAAATTTCTAAACTCACCATTTATGATGCAAGA
CCCAGCGTAAATGCAGTGGCCAACAAGGCAACAGGAGGAGGATATGAAAGTGATGATGCA
TATCATAACGCCGAACTTTTCTTCTTAGACATTCATAATATTCATGTTATGCGGGAATCT
TTAAAAAAAGTGAAGGACATTGTTTATCCTAATGTAGAAGAATCTCATTGGTTGTCCAGT
TTGGAGTCTACTCATTGGTTAGAACATATCAAGCTCGTTTTGACAGGAGCCATTCAAGTA
GCAGACAAAGTTTCTTCAGGGAAGAGTTCAGTGCTTGTGCATTGCAGTGACGGATGGGAC
AGGACTGCTCAGCTGACATCCTTGGCCATGCTGATGTTGGATAGCTTCTATAGGAGCATT
GAAGGGTTCGAAATACTGGTACAAAAAGAATGGATAAGTTTTGGACATAAATTTGCATCT
CGAATAGGTCATGGTGATAAAAACCACACCGATGCTGACCGTTCTCCTATTTTTCTCCAG
TTTATTGATTGTGTGTGGCAAATGTCAAAACAGTTCCCTACAGCTTTTGAATTCAATGAA
CAATTTTTGATTATAATTTTGGATCATCTGTATAGTTGCCGATTTGGTACTTTCTTATTC
AACTGTGAATCTGCTCGAGAAAGACAGAAGGTTACAGAAAGGACTGTTTCTTTATGGTCA
CTGATAAACAGTAATAAAGAAAAATTCAAAAACCCCTTCTATACTAAAGAAATCAATCGA
GTTTTATATCCAGTTGCCAGTATGCGTCACTTGGAACTCTGGGTGAATTACTACATTAGA
TGGAACCCCAGGATCAAGCAACAACAGCCGAATCCAGTGGAGCAGCGTTACATGGAGCTC
TTAGCCTTACGCGACGAATACATAAAGCGGCTTGAGGAACTGCAGCTCGCCAACTCTGCC
AAGCTTTCTGATCCCCCAACTTCACCTTCCAGTCCTTCGCAAATGATGCCCCATGTGCAA
ACTCACTTCTGA
Protein Properties
Number of Residues 603
Molecular Weight 69931.09
Theoretical pI 8.182
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Myotubularin
MASASTSKYNSHSLENESIKRTSRDGVNRDLTEAVPRLPGETLITDKEVIYICPFNGPIK
GRVYITNYRLYLRSLETDSSLILDVPLGVISRIEKMGGATSRGENSYGLDITCKDMRNLR
FALKQEGHSRRDMFEILTRYAFPLAHSLPLFAFLNEEKFNVDGWTVYNPVEEYRRQGLPN
HHWRITFINKCYELCDTYPALLVVPYRASDDDLRRVATFRSRNRIPVLSWIHPENKTVIV
RCSQPLVGMSGKRNKDDEKYLDVIRETNKQISKLTIYDARPSVNAVANKATGGGYESDDA
YHNAELFFLDIHNIHVMRESLKKVKDIVYPNVEESHWLSSLESTHWLEHIKLVLTGAIQV
ADKVSSGKSSVLVHCSDGWDRTAQLTSLAMLMLDSFYRSIEGFEILVQKEWISFGHKFAS
RIGHGDKNHTDADRSPIFLQFIDCVWQMSKQFPTAFEFNEQFLIIILDHLYSCRFGTFLF
NCESARERQKVTERTVSLWSLINSNKEKFKNPFYTKEINRVLYPVASMRHLELWVNYYIR
WNPRIKQQQPNPVEQRYMELLALRDEYIKRLEELQLANSAKLSDPPTSPSSPSQMMPHVQ
THF
GenBank ID Protein 4557896
UniProtKB/Swiss-Prot ID Q13496
UniProtKB/Swiss-Prot Entry Name MTM1_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_000252.2
GeneCard ID MTM1
GenAtlas ID MTM1
HGNC ID HGNC:7448
References
General References
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  19. Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, D'Apice MR, Lagier-Tourenne C, Buj-Bello A, Romero NB, Mandel JL: Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum Genet. 2003 Feb;112(2):135-42. Epub 2002 Nov 28. [PubMed:12522554 ]