Property Summary

NCBI Gene PubMed Count 12
Grant Count 5
Funding $320,200
PubMed Score 10.22
PubTator Score 7.93

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
diabetes mellitus -1.100 0.002

Gene RIF (5)

PMID Text
20595810 This study provides the first in vivo evidence for a role of myotubularins, and in particular MTMR14, in the regulation of autophagy.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19590496 The authors uncovered a key negative regulatory role in autophagy of a phosphatidylinositol 3-phosphate (PI3P) phosphatase Jumpy (MTMR14).
17008356 Study identified a novel phosphoinositide phosphatase, JUMPY in sporadic cases of centronuclear myopathy; two missense variants that affect the enzymatic function were found
17008356 C3orf29 encodes hJUMPY, a phosphoinositide 3-phosphate phosphatase that acts on PtdIns3P and PtdIns(3,5)P2. A missense mutation disrupts the catalytic activity in a patient with centronuclear myopathy.

AA Sequence

MAGARAAAAAASAGSSASSGNQPPQELGLGELLEEFSRTQYRAKDGSGTGGSKVERIEKRCLELFGRDYC      1 - 70
FSVIPNTNGDICGHYPRHIVFLEYESSEKEKDTFESTVQVSKLQDLIHRSKMARCRGRFVCPVILFKGKH     71 - 140
ICRSATLAGWGELYGRSGYNYFFSGGADDAWADVEDVTEEDCALRSGDTHLFDKVRGYDIKLLRYLSVKY    141 - 210
ICDLMVENKKVKFGMNVTSSEKVDKAQRYADFTLLSIPYPGCEFFKEYKDRDYMAEGLIFNWKQDYVDAP    211 - 280
LSIPDFLTHSLNIDWSQYQCWDLVQQTQNYLKLLLSLVNSDDDSGLLVHCISGWDRTPLFISLLRLSLWA    281 - 350
DGLIHTSLKPTEILYLTVAYDWFLFGHMLVDRLSKGEEIFFFCFNFLKHITSEEFSALKTQRRKSLPARD    351 - 420
GGFTLEDICMLRRKDRGSTTSLGSDFSLVMESSPGATGSFTYEAVELVPAGAPTQAAWRKSHSSSPQSVL    421 - 490
WNRPQPSEDRLPSQQGLAEARSSSSSSSNHSDNFFRMGSSPLEVPKPRSVDHPLPGSSLSTDYGSWQMVT    491 - 560
GCGSIQERAVLHTDSSLPFSFPDELPNSCLLAALSDRETRLQEVRSAFLAAYSSTVGLRAVAPSPSGAIG    561 - 630
GLLEQFARGVGLRSISSNAL                                                      631 - 650
//

Text Mined References (21)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
20595810 2010 The role of MTMR14 in autophagy and in muscle disease.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19590496 2009 Control of autophagy initiation by phosphoinositide 3-phosphatase Jumpy.
More...