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Sequence of this protein is as follows: MASASTSKYN SHSLENESIK RTSRDGVNRD LTEAVPRLPG ETLITDKEVI YICPFNGPIK GRVYITNYRL YLRSLETDSS LILDVPLGVI SRIEKMGGAT SRGENSYGLD ITCKDMRNLR FALKQEGHSR RDMFEILTRY AFPLAHSLPL FAFLNEEKFN VDGWTVYNPV EEYRRQGLPN HHWRITFINK CYELCDTYPA LLVVPYRASD DDLRRVATFR SRNRIPVLSW IHPENKTVIV RCSQPLVGMS GKRNKDDEKY LDVIRETNKQ ISKLTIYDAR PSVNAVANKA TGGGYESDDA YHNAELFFLD IHNIHVMRES LKKVKDIVYP NVEESHWLSS LESTHWLEHI KLVLTGAIQV ADKVSSGKSS VLVHCSDGWD RTAQLTSLAM LMLDSFYRSI EGFEILVQKK WISFGHKFAS RIGHGDKNHT DADRSPIFLQ FIDCVWQMSK QFPTAFEFNE QFLIIILDHL YSCRFGTFLF NCESARERQK VTERTVSLWS LINSNKEKFK NPFYTKEINR VLYPVASMRH LELWVNYYIR WNPRIKQQQP NPVEQRYMEL LALRDEYIKR LEELQLANSA KLSDPPTSPS SPSQMMPHVQ THF
Human MTM1, a 603 amino-acid protein, is mutated in myotubular myopathy. The largely related protein hMTMR2 is found mutated in a recessive form of Charcot-Marie-tooth neuropathy. Myotubularin is primarily a lipid phosphatase that acts on hosphatidylinositol 3-monophosphate and is involved in the regulation of the phosphatidylinositol 3-kinase (PI 3-kinase) pathway and membrane trafficking. Wildtype myotubularin can directly dephosphorylate PI 3-P and PI 4-P in vitro. Thus, it decreases PI 3-P levels by down-regulating PI 3-K activity and by facilitating the degradation of PI 3-P.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Myotubularin; Phosphatidylinositol-3,5-bisphosphate 3-phosphatase; Phosphatidylinositol-3-phosphate phosphatase
基因别名: CG2; CNM; MTM1; MTMX; XLMTM
UniProt ID: (Human) Q13496
Entrez Gene ID: (Human) 4534
分子生物学功能:
phosphatase