| Identification |
|---|
| HMDB Protein ID
| CDBP02079 |
| Secondary Accession Numbers
| Not Available |
| Name
| Myotubularin |
| Description
| Not Available |
| 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.
|
| 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 |
| phosphatidylinositol-3-phosphatase activity |
| protein tyrosine phosphatase activity |
| phosphoprotein phosphatase activity |
| intermediate filament binding |
| phosphatidylinositol binding |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity |
| Process |
| phosphorus metabolic process |
| phosphate metabolic process |
| dephosphorylation |
| metabolic process |
| cellular metabolic process |
|
| Cellular Location
|
- Cytoplasmic
|
| Pathways
|
| Name | SMPDB/Pathwhiz | KEGG | | Phosphatidylinositol signaling system | Not Available |  |
|
| 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
|
| External Links |
|---|
| 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
| Not Available |