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VAC14

Phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) is a low-abundance signaling molecule. A regulatory complex made up of VAC14 and FIG4 (MIM 609390) control synthesis of PI(3,5)P2 by activating PI(3)P kinase, FAB1 (PIP5K3; MIM 609414). The VAC14/FIG4 complex also functions in the breakdown of PI(3,5)P2 (Zhang et al., 2007 [PubMed 17956977]).[supplied by OMIM
Full Name
Vac14 homolog (S. cerevisiae)
Function
Scaffold protein component of the PI(3,5)P2 regulatory complex which regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Pentamerizes into a star-shaped structure and nucleates the assembly of the complex. The pentamer binds a single copy each of PIKFYVE and FIG4 and coordinates both PIKfyve kinase activity and FIG4 phosphatase activity, being required to maintain normal levels of phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 5-phosphate (PtdIns5P) (PubMed:33098764).
Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes.
Biological Process
Biological Process phosphatidylinositol biosynthetic process Source:GO_Central1 Publication
Biological Process positive regulation of kinase activity Source:GO_Central1 Publication
Biological Process regulation of postsynaptic neurotransmitter receptor internalization Source:Ensembl
Biological Process signal transduction Source:UniProtKB1 Publication
Cellular Location
Endosome membrane
Microsome membrane
Mainly associated with membranes of the late endocytic pathway.
Involvement in disease
Striatonigral degeneration, childhood-onset (SNDC):
An autosomal recessive neurological disorder characterized by sudden childhood onset of developmental regression. Affected children develop impaired movements with dystonia, progressively become non-ambulatory and non-verbal, and exhibit striatal abnormalities on MRI.

Anti-VAC14 antibodies

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Target: VAC14
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 3B2
Application*: WB, E
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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