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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:609139 Ensembl IDEnsembl:ENSG00000068615 HGNC IDHGNC:HGNC:25786 PHARMGKB IDPA134906680 Map Location2p11.2 | |||||
GO terms in REEP1
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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 |
Gene expression in normal tissue: REEP1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in REEP1
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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 |
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Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in REEP1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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