REEP1
Summary: This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
receptor accessory protein 1 | MIM:609139 | Ensembl:ENSG00000068615 | HGNC:HGNC:25786 | PA134906680 | 2p11.2 |
GO terms in REEP1
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
BP | IEA | GO:0032386 | regulation of intracellular transport |
BP | IDA | GO:0051205 | protein insertion into membrane |
BP | IMP | GO:0071786 | endoplasmic reticulum tubular network organization |
CC | IDA | GO:0005737 | cytoplasm |
CC | IDA | GO:0005783 | endoplasmic reticulum |
CC | IEA | GO:0005789 | endoplasmic reticulum membrane |
CC | IDA | GO:0016020 | membrane |
CC | IEA | GO:0016021 | integral component of membrane |
CC | IEA | GO:0031966 | mitochondrial membrane |
CC | ISS | GO:0071782 | endoplasmic reticulum tubular network |
MF | IPI | GO:0005515 | protein binding |
MF | IDA | GO:0008017 | microtubule binding |
MF | IMP | GO:0031849 | olfactory receptor binding |
Gene expression in normal tissue: REEP1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in REEP1
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-162582 | Signal Transduction |
reactome | R-HSA-372790 | Signaling by GPCR |
reactome | R-HSA-381753 | Olfactory Signaling Pathway |
reactome | R-HSA-388396 | GPCR downstream signalling |
reactome | R-HSA-418555 | G alpha (s) signalling events |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD284 | Palbociclib | 1 |
iGMDRD353 | PD0325901 | 2 |
iGMDRD309 | 17AAG | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in REEP1