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myotubularin (MTM1, CG2)
mutations seen in x-linked myotubular myopathy
Function:
- dual-specificity phosphatase
- acts on both phospho-yr & phospho-Ser
- could be involved in a signal transduction pathway necessary for late myogenesis, although its ubiquitous expression suggests a wider function
Structure:
- belongs to the protein-tyrosine phosphatase family non-receptor class myotubularin subfamily
- contains 1 GRAM domain
- contains 1 myotubularin phosphatase domain
Pathology:
- defects in MTM1 are the cause of myotubular myopathy type-1 (X-linked)
General
myotubularin family protein
Properties
SIZE: entity length = 603 aa
MW = 70 kD
STATE: active state
MOTIF: Ser phosphorylation site {S13}
GRAM {29-97}
Myotubularin phosphatase {163-538}
MOTIF: cysteine residue {C375}
Thr phosphorylation site {T495}
Ser phosphorylation site {S588}
Ser phosphorylation site {S591}
Database Correlations
OMIM correlations
UniProt Q13496
PFAM correlations
Entrez Gene 4534
Kegg hsa:4534
ENZYME 3.1.3.48
References
- UniProt :accession Q13496
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=MTM1