AlphaFold predicted structure
VAC14 · Q08AM6
Mean pLDDT
83.7/ 100
Confident
782 residues
Confidence breakdown
- Very high(≥ 90)74%
- Confident(70–90)9%
- Low(50–70)2%
- Very low(< 50)16%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
VAC14
Chr 16q22.1-q22.2VAC14 component of PIKFYVE complex
- Aliases:
- FLJ10305, ArPIKfyve
- MANE:
- ENST00000261776.10
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalEarly onset dystonia
BIALLELIC, autosomal or pseudoautosomalStructural basal ganglia disorders
BIALLELIC, autosomal or pseudoautosomalAdult onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalAdult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
striatonigral degeneration, childhood-onset
0.74Yunis-Varon syndrome
0.41hereditary disease
0.34skull disorder
0.24exocrine pancreatic carcinoma
0.23response to antihypertensive drug
0.13myoepithelial tumor
0.11Neurodegeneration
0.11Abnormality of the skeletal system
0.10intelligence
0.09
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Protein VAC14 homolog
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 (PtdIns(3)P) and phosphatidylinositol 5-phosphate (PtdIns(5)P) (PubMed:33098764). Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes