LMPD Database

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LMP006622

UniProt Annotations

Entry Information
Gene Namemyotubularin related protein 12
Protein EntryQ9C0I1_HUMAN
UniProt IDQ9C0I1
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9C0I1-1; Sequence=Displayed; Name=2; IsoId=Q9C0I1-2; Sequence=VSP_030722; Name=3; IsoId=Q9C0I1-3; Sequence=VSP_030721;
CautionLacks the phosphocysteine intermediate Cys active site in position 391 that is replaced by a Glu residue, preventing the hydrolase activity.
FunctionCatalytically inactive phosphatase that plays a role as an adapter for the phosphatase myotubularin to regulate myotubularin intracellular location. {ECO
InteractionQ13496:MTM1; NbExp=4; IntAct=EBI-2829520, EBI-2864109;
Sequence CautionSequence=BAB21773.1; Type=Erroneous initiation; Evidence= ;
SimilarityBelongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
SimilarityContains 1 myotubularin phosphatase domain.
Subcellular LocationCytoplasm . Note=Localizes to punctate vesicles when associated with MTM1.
SubunitInteracts with myotubularin MTM1 and myotubularin-related MTMR2.
Tissue SpecificityUbiquitous with prominent expression in brain, heart, kidney, placenta, and lung.