VAC14
Sign in to saveAlso known as ArPIKfyve, TAX1BP2, TRX, Vac14, PIKFYVE complex component, VAC14 component of PIKFYVE complex
Protein VAC14 homolog, also known as ArPIKfyve (Associated Regulator of PIKfyve), is a protein that in humans is encoded by the VAC14 gene.
Gene data
VAC14- Name
- VAC14 component of PIKFYVE complex
- Type
- protein-coding
- Position
- 70,687,436–70,801,178 (−)
- Aliases
- ArPIKfyve, TAX1BP2, TRX
- Ensembl
- ENSG00000103043
- RefSeq RNA
- NM_001351157.2, NM_018052.5, XM_005256038.5, XM_011523225.4, XM_047434360.1
- RefSeq protein
- NP_001338086.1, NP_060522.3, XP_005256095.1, XP_011521527.1, XP_047290316.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
VAC14 component of PIKFYVE complex
- Symbol
- VAC14
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 16:70,687,436-70,801,178
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 6528
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/55697
- genomic end
- 70801160
- genomic start
- 70721342
- chromosome
- human chromosome 16
- cytogenetic location
- 16q22.1-q22.2
via Wikidata · CC0
~3 min read
Encyclopedic overview
5 sectionsContents
- Function
- Mouse models
- Clinical significance
- References
- Further reading
Protein VAC14 homolog, also known as ArPIKfyve (Associated Regulator of PIKfyve), is a protein that in humans is encoded by the VAC14 gene.
== Function ==
Excerpted from Wikipedia’s “VAC14” article, available under the CC BY-SA 4.0 licence.