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The association data demonstrated strong correlations between rs8060947 and VAC14 expression and between rs8060947 and S. Typhi invasion. The direction of effects for the different alleles led to the hypothesis that reducing VAC14 expression would increase S. Typhi invasion.
A genome-wide association study of a prospectively enrolled patient cohort identified an single nucleotide polymorphism in VAC14 that predicts sensitivity to docetaxel-induced peripheral neuropathy.
Biallelic rare coding variants in VAC14 was identified in a female neonate with Yunis-Varon syndrome. Cultured patient fibroblasts exhibited a YVS-like vacuolation ameliorated by ML-SA1 (show STAG1 Proteins).
The similar age of onset and neurological decline in the two unrelated children define a recessive disorder resulting from compound heterozygosity for deleterious variants of VAC14.
Rab7 GAP TBC1D15 (show TBC1D15 Proteins) with Vac14.
a novel regulatory mechanism whereby ArPIKfyve enhances Sac3 (show MCM3AP Proteins) abundance by attenuating Sac3 (show MCM3AP Proteins) proteasome-dependent degradation and suggest that a failure of this mechanism could be the primary molecular defect in the pathogenesis of CMT4J.
the PIKfyve (show PIKFYVE Proteins)-associated hVac14 protein has a major role in activating PIKfyve (show PIKFYVE Proteins) and thereby regulating PtdIns(3,5)P(2) synthesis and endomembrane homeostasis in mammalian cells
describe a novel interaction between the PDZ domain of nitric oxide synthase and Vac14
demonstrate a coupling between the machinery for PtdIns(3,5)P2 synthesis and turnover achieved through a physical assembly of PIKfyve (show PIKFYVE Proteins), ArPIKfyve, and Sac3 (show MCM3AP Proteins).
The authors data indicate that the PAS (show PASK Proteins) complex is organized to provide optimal PIKfyve (show PIKFYVE Proteins) functionality and is maintained via ArPIKfyve homomeric and heteromeric interactions.
Thus, VAC14, PI(3,5)P(2) and/or PI(5)P play a role in controlling postsynaptic function via regulation of endocytic cycling of AMPA (show GRIA3 Proteins) receptors.
a novel regulatory mechanism whereby ArPIKfyve enhances Sac3 (show FIG4 Proteins) abundance by attenuating Sac3 (show FIG4 Proteins) proteasome-dependent degradation and suggest that a failure of this mechanism could be the primary molecular defect in the pathogenesis of CMT4J.
The data demonstrate for the first time a physical association between functionally related PIKfyve (show PIKFYVE Proteins) and ArPIKfyve in 3T3-L1 adipocytes.
report the characterization of a mouse mutant lacking Vac14, a regulator of PI(3,5)P(2) synthesis
The authors show that Vac14 exerts an effect as a scaffold for the PI(3,5)P2 regulatory complex by direct contact with the known regulators of PI(3,5)P2: Fig4 (show FIG4 Proteins), Fab1, Vac7 and Atg18 (show WIPI1 Proteins).
The content of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) in endosomal membranes changes dynamically with fission and fusion events that generate or absorb intracellular transport vesicles. VAC14 is a component of a trimolecular complex that tightly regulates the level of PtdIns(3,5)P2. Other components of this complex are the PtdIns(3,5)P2-synthesizing enzyme PIKFYVE (MIM 609414) and the PtdIns(3,5)P2 phosphatase FIG4 (MIM 609390). VAC14 functions as an activator of PIKFYVE (Sbrissa et al., 2007
protein VAC14 homolog
, Tax1 (human T-cell leukemia virus type I) binding protein 1
, Tax1 (human T-cell leukemia virus type I) binding protein 2
, tax1-binding protein 2
, vacuole morphology 14
, vacuole 14 protein