AMPH
Summary: This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| amphiphysin | MIM:600418 | Ensembl:ENSG00000078053 | HGNC:HGNC:471 | PA24779 | 7p14.1 |
GO terms in AMPH
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0005543 | phospholipid binding |
| CC | TAS | GO:0005829 | cytosol |
| CC | TAS | GO:0008021 | synaptic vesicle |
| CC | TAS | GO:0015629 | actin cytoskeleton |
| CC | IEA | GO:0030054 | cell junction |
| CC | IEA | GO:0030672 | synaptic vesicle membrane |
| CC | IDA | GO:0031256 | leading edge membrane |
| BP | TAS | GO:0006897 | endocytosis |
| BP | TAS | GO:0007268 | chemical synaptic transmission |
| BP | TAS | GO:0061024 | membrane organization |
Gene expression in normal tissue: AMPH
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in AMPH
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04144 | Endocytosis - Homo sapiens (human) |
| kegg | hsa04666 | Fc gamma R-mediated phagocytosis - Homo sapiens (human) |
| pid | erbb1_internalization_pathway | Internalization of ErbB1 |
| wikipathways | WP727 | Monoamine Transport |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-8856828 | Clathrin-mediated endocytosis |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD399 | Selumetinib | 1 |
| iGMDRD353 | PD0325901 | 1 |
| iGMDRD309 | 17AAG | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in AMPH
CLASSFICATION
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