Property Summary

NCBI Gene PubMed Count 12
PubMed Score 10.22
PubTator Score 7.93

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Expression

  Differential Expression (1)

Disease log2 FC p
diabetes mellitus -1.100 0.002

Synonym

Accession Q8NCE2 Q0JTH5 Q0JU83 Q6PIZ4 Q6QE21 Q86VK9 Q8IYK1 Q8TCM7 Q9H6C0
Symbols C3orf29

Gene

  Ortholog (10)

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.
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