Human Gene VAC14 (uc002ezl.3) Description and Page Index
Description: Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA. RefSeq Summary (NM_018052): This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important component of cellular membranes, from phosphatidylinositol 3-phosphate. Mice lacking a functional copy of this gene exhibit severe neurodegeneration. Mutations in the human gene have been identified in patients with a childhood onset progressive neurological disorder characterized by impaired movement, dystonia, and striatal abnormalities. [provided by RefSeq, May 2017]. Transcript (Including UTRs) Position: hg19 chr16:70,721,342-70,765,462 Size: 44,121 Total Exon Count: 6 Strand: - Coding Region Position: hg19 chr16:70,721,831-70,732,671 Size: 10,841 Coding Exon Count: 5
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF11916 - Vacuolar protein 14 C-terminal Fig4p binding
ModBase Predicted Comparative 3D Structure on B3KSM8
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.