Probable pseudophosphatase. Lacks several amino acids in the catalytic pocket which renders it catalytically inactive as a phosphatase. The pocket is however sufficiently preserved to bind phosphorylated substrates, and maybe protect them from phosphatases. Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts. May function as a guanine nucleotide exchange factor (GEF) activating RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.
Function:
Probable pseudophosphatase. Lacks several amino acids in the catalytic pocket which renders it catalytically inactive as a phosphatase. The pocket is however sufficiently preserved to bind phosphorylated substrates, and maybe protect them from phosphatases. Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts. According to PubMed:20937701, may function as a guanine nucleotide exchange factor (GEF) activating RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.
Subunit:
Interacts with the SET domain of KMT2A/MLL1. Interacts with SUV39H1.
Subcellular Location:
Nuclear
DISEASE:
Charcot-Marie-Tooth disease 4B3 (CMT4B3) [MIM:615284]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
Contains 1 dDENN domain.
Contains 1 DENN domain.
Contains 1 GRAM domain.
Contains 1 myotubularin phosphatase domain.
Contains 1 PH domain.
Contains 1 uDENN domain.
SWISS:
O95248
Gene ID:
6305
Database links:
Entrez Gene: 6305 Human
Entrez Gene: 77196 Mouse
Entrez Gene: 300147 Rat
Omim: 603560 Human
SwissProt: O95248 Human
SwissProt: Q6ZPE2 Mouse
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