EPB41L1
Summary: Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| erythrocyte membrane protein band 4.1 like 1 | MIM:602879 | Ensembl:ENSG00000088367 | HGNC:HGNC:3378 | PA27811 | 20q11.23 |
GO terms in EPB41L1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0003779 | actin binding |
| MF | IPI | GO:0005515 | protein binding |
| BP | IEA | GO:0030866 | cortical actin cytoskeleton organization |
| BP | IBA | GO:0031032 | actomyosin structure organization |
| CC | TAS | GO:0005829 | cytosol |
| CC | IBA | GO:0005856 | cytoskeleton |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
Gene expression in normal tissue: EPB41L1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in EPB41L1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-112314 | Neurotransmitter receptors and postsynaptic signal transmission |
| reactome | R-HSA-112315 | Transmission across Chemical Synapses |
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-399719 | Trafficking of AMPA receptors |
| reactome | R-HSA-399721 | Glutamate binding, activation of AMPA receptors and synaptic plasticity |
| reactome | R-HSA-6794361 | Neurexins and neuroligins |
| reactome | R-HSA-6794362 | Protein-protein interactions at synapses |
| wikipathways | WP4148 | Splicing factor NOVA regulated synaptic proteins |
| pid | pi3kplctrkpathway | Trk receptor signaling mediated by PI3K and PLC-gamma |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in EPB41L1
CLASSFICATION
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