InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Vac14

Summary

InnateDB Protein

IDBP-192041.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Vac14

Protein Name

Vac14 homolog (S. cerevisiae)

Synonyms

Species

Mus musculus

Ensembl Protein

ENSMUSP00000034190

InnateDB Gene

IDBG-192039 (Vac14)

Protein Structure

UniProt Annotation

Function

The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Acts as a positive activator of PIKfyve kinase activity. Also required to maintain normal levels of phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 5-phosphate (PtdIns(5)P). Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes. {ECO:0000269PubMed:17956977, ECO:0000269PubMed:19037259}.

Subcellular Localization

Endosome membrane {ECO:0000269PubMed:19037259}. Microsome membrane {ECO:0000250}. Note=Mainly associated with membranes of the late endocytic pathway.

Disease Associations

Note=Defects in Vac14 are the cause of the infantile gliosis phenotype (ingls). Mice exhibit reduced body size and diluted pigmentation that can be recognized as early as postnatal day 3 (P3). By P14, the mice exhibit a tremor and impaired motor function. Maximal survival of the mice is for 3 weeks. Small areas with the appearance of spongiform degeneration are visible in several brain regions, including the thalamus, brain stem and cerebellar nucleus.

Tissue Specificity

Ubiquitous. {ECO:0000269PubMed:17956977}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	10 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005488	binding
GO:0005515	protein binding
GO:0019209	kinase activator activity

Biological Process

GO:0006970	response to osmotic stress
GO:0008219	cell death
GO:0042327	positive regulation of phosphorylation
GO:0043550	regulation of lipid kinase activity

Cellular Component

GO:0005774	vacuolar membrane
GO:0005783	endoplasmic reticulum
GO:0010008	endosome membrane
GO:0070772	PAS complex

Protein Structure and Domains

PDB ID

MGI:2157980

InterPro

IPR000357 HEAT
IPR016024 Armadillo-type fold
IPR021841 Vacuolar protein 14 C-terminal Fig4-binding domain

PFAM

PF02985
PF11916

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q80WQ2

PhosphoSite

PhosphoSite-Q80WQ2

TrEMBL

Q8K279

UniProt Splice Variant

Entrez Gene

234729

UniGene

RefSeq

NP_666328

MGI ID

MGI Symbol

Vac14

OMIM

CCDS

CCDS22663

HPRD

IMGT

EMBL

AK046826 AK171577 BC032215 BC052199

GenPept

AAH32215 AAH52199 BAC32886 BAE42537