※ Myotubularins family introduction

    Myotubularins (MTM) phosphatases belong to a family of conserved DUSP phosphatase. The myotubularins is consist of 14 members which share a conserved protein tyrosine phosphatase catalytic domain and myotubularins is a large family of phosphoinositide lipid 3-phosphatases with specificity for PtdIns3P and PtdIns (3, 5) P2. Besides PTP domain, myotubularins also contains other motifs which may contribute to protein−protein or protein−lipid interactions. Myotubularins participates in endocytic pathway by regulating substrates PtdIns3P and PtdIns (3,5)P2 which are key regulator of endocytic pathway and myotubularins may function to suppress concentration of substrate lipids at inappropriate compartments. In addition, some studies show that several MTMs, such as MTMR1, MTMR6, MTMR7, MTMR8 and MTMR12 play an important role in promoting cell survival by regulating PtdIns5P level and PtdIns (3,4,5)P3 specific 5-phosphatase, in turn control PKB/Akt activation. Myotubularins mutation is often accompanied with some diseases. MTM1 mutation can lead to condition known as myotubular myopathy. MTMR2 and MTMR13/Sbf2 mutations lead to clinically indistinguishable forms of a neuropathy called Charcot−Marie−Tooth syndrome (types 4B1 and 4B2). MTMR2 and MTMR5/Sbf1 mutations lead to impaired spermatogenesis and azoospermia.

Reference
1. Clague, M.J. and Lorenzo, O. (2005) The myotubularin family of lipid phosphatases. Traffic, 6, 1063-1069. PMID: 16262718

  Reviewed (0)  or Unreviewed (18) 

No.	Status	iEKPD ID	Ensemble Gene ID	UniProt Accession	Gene Name
1		iEKPD-Tag-0640	ENSTGUG00000005555.1	H0Z582
2		iEKPD-Tag-0621	ENSTGUG00000010513.1	H0ZJS3
3		iEKPD-Tag-0623	ENSTGUG00000016223.1	H1A0W9
4		iEKPD-Tag-0618	ENSTGUG00000016261.1	H1A103
5		iEKPD-Tag-0620	ENSTGUG00000016328.1	H1A169
6		iEKPD-Tag-0626	ENSTGUG00000001412.1	H0YT48	LOC100226641
7		iEKPD-Tag-0568	ENSTGUG00000004636.1	H0Z2J7	MTM1
8		iEKPD-Tag-0624	ENSTGUG00000004586.1	H0Z2H0	MTMR1
9		iEKPD-Tag-0633	ENSTGUG00000001907.1	H0YUJ6	MTMR12
10		iEKPD-Tag-0632	ENSTGUG00000008521.1	H0ZDY8	MTMR14
11		iEKPD-Tag-0634	ENSTGUG00000012806.1	H0ZRE4	MTMR2
12		iEKPD-Tag-0631	ENSTGUG00000010514.1	H0ZJT8	MTMR3
13		iEKPD-Tag-0660	ENSTGUG00000003314.1	H0YYS3	MTMR4
14		iEKPD-Tag-0627	ENSTGUG00000011465.1	H0ZMK0	MTMR6
15		iEKPD-Tag-0625	ENSTGUG00000007209.1	H0ZA46	MTMR7
16		iEKPD-Tag-0628	ENSTGUG00000005560.1	H0Z598	MTMR8
17		iEKPD-Tag-0629	ENSTGUG00000013306.1	H0ZSV5	MTMR9
18		iEKPD-Tag-0677	ENSTGUG00000008025.1	H0ZCN7	SBF2