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 |
|---|---|---|---|---|---|
| Vac14, PIKFYVE complex component | MIM:604632 | Ensembl:ENSG00000103043 | HGNC:HGNC:25507 | PA142670633 | 16q22.1-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 |
| CC | TAS | GO:0031901 | early endosome membrane |
| CC | TAS | GO:0031902 | late endosome membrane |
| CC | IBA | GO:0070772 | PAS complex |
| CC | IEA | GO:0070772 | PAS complex |
| BP | IBA | GO:0006661 | phosphatidylinositol biosynthetic process |
| BP | TAS | GO:0006661 | phosphatidylinositol biosynthetic process |
| BP | NAS | GO:0007165 | signal transduction |
| BP | IEA | GO:0016032 | viral process |
| BP | IBA | GO:0033674 | positive regulation of kinase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | NAS | GO:0038023 | signaling receptor activity |
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 |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1483255 | PI Metabolism |
| reactome | R-HSA-1483255 | PI Metabolism |
| reactome | R-HSA-1483257 | Phospholipid metabolism |
| reactome | R-HSA-1483257 | Phospholipid metabolism |
| reactome | R-HSA-1660514 | Synthesis of PIPs at the Golgi membrane |
| reactome | R-HSA-1660514 | Synthesis of PIPs at the Golgi membrane |
| reactome | R-HSA-1660516 | Synthesis of PIPs at the early endosome membrane |
| reactome | R-HSA-1660516 | Synthesis of PIPs at the early endosome membrane |
| reactome | R-HSA-1660517 | Synthesis of PIPs at the late endosome membrane |
| reactome | R-HSA-1660517 | Synthesis of PIPs at the late endosome membrane |
| reactome | R-HSA-556833 | Metabolism of lipids |
| reactome | R-HSA-556833 | Metabolism of lipids |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in VAC14
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