VAC14
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:604632 Ensembl IDEnsembl:ENSG00000103043 HGNC IDHGNC:HGNC:25507 PHARMGKB IDPA142670633 Map Location16q22.1-q22.2 | |||||
GO terms in VAC14
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0000139 | Golgi membrane |
| CC | IBA | GO:0000306 | extrinsic component of vacuolar membrane |
| CC | IBA | GO:0005774 | vacuolar membrane |
| CC | IEA | GO:0005783 | endoplasmic reticulum |
| CC | IBA | GO:0010008 | endosome membrane |
| CC | IDA | GO:0010008 | endosome membrane |
Gene expression in normal tissue: VAC14
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in VAC14
Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa05166 | HTLV-I infection - Homo sapiens (human) |
| kegg | hsa05203 | Viral carcinogenesis - Homo sapiens (human) |
| smpdb | SMP00011 | Inositol Metabolism |
| smpdb | SMP00463 | Phosphatidylinositol Phosphate Metabolism |
| smpdb | SMP00582 | Joubert syndrome |
| reactome | R-HSA-1430728 | Metabolism |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD748 | PHA-665752 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in VAC14
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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