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Details on Person UniProt:Q96HR9 REEP6
| Class:Id | ReferenceGeneProduct:245236 |
|---|---|
| _chainChangeLog | chain:1-184 added on Fri February 6 2015 |
| _displayName | UniProt:Q96HR9 REEP6 |
| _timestamp | 2025-08-15 21:18:14 |
| chain | chain:1-211 |
| checksum | CB45B084E8A584C9 |
| comment | FUNCTION Required for correct function and survival of retinal photoreceptors (PubMed:27889058). Required for retinal development (By similarity). In rod photoreceptors, facilitates stability and/or trafficking of guanylate cyclases and is required to maintain endoplasmic reticulum and mitochondrial homeostasis (By similarity). May play a role in clathrin-coated intracellular vesicle trafficking of proteins from the endoplasmic reticulum to the retinal rod plasma membrane (By similarity).SUBUNIT Interacts with STX3 (By similarity). Interacts with clathrin (By similarity).INTERACTION Expressed in circumvallate papillae and testis (PubMed:16720576). Expressed in the retina. Isoform 1 is predominantly present in mature optic cups. Isoform 1 expression is confined to the cell body and inner segment of developing rod photoreceptor cells (PubMed:27889058).DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the DP1 family. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: Receptor expression-enhancing protein 6 alternativeName: Polyposis locus protein 1-like 1 |
| geneName | REEP6 C19orf32 DP1L1 |
| identifier | Q96HR9 |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing Cytoplasmic vesicle Disease variant Endoplasmic reticulum Membrane Proteomics identification Reference proteome Retinitis pigmentosa Transmembrane Transmembrane helix |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9963647] Weiser, Joel, 2025-08-15 |
| name | REEP6 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8962350] ENSEMBL:ENSG00000115255 REEP6 [Homo sapiens] |
| secondaryIdentifier | REEP6_HUMAN A0A1L5BXV3 B2RE01 D6W5Z0 Q96LM0 |
| sequenceLength | 211 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:9004924] UniProt:Q96HR9-1 REEP6 [Homo sapiens] [ReferenceIsoform:9004925] UniProt:Q96HR9-2 REEP6 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:8939719] REEP6 [endoplasmic reticulum membrane] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q96HR9 REEP6 (245236)
