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].
Loading, please wait...
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Nameamphiphysin OMIM IDMIM:600418 Ensembl IDEnsembl:ENSG00000078053 HGNC IDHGNC:HGNC:471 PHARMGKB IDPA24779 Map Location7p14.1 | |||||
GO terms in AMPH
Loading, please wait...
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 |
Gene expression in normal tissue: AMPH
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in AMPH
Loading, please wait...
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in AMPH
Loading, please wait...
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.