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Details on Person UniProt:Q6PJF5 RHBDF2
| Class:Id | ReferenceGeneProduct:385954 |
|---|---|
| _chainChangeLog | chain:1-856 added on Sat February 7 2015 |
| _displayName | UniProt:Q6PJF5 RHBDF2 |
| _timestamp | 2024-11-03 19:48:15 |
| chain | chain:1-856 |
| checksum | 69C40A21EBDBDDC0 |
| comment | FUNCTION Regulates ADAM17 protease, a sheddase of the epidermal growth factor (EGF) receptor ligands and TNF, thereby plays a role in sleep, cell survival, proliferation, migration and inflammation. Does not exhibit any protease activity on its own.SUBUNIT Interacts with EGF (By similarity). Interacts (via cytoplasmic N-terminus) with FRMD8/iTAP; this interaction leads to mutual protein stabilization (PubMed:29897333, PubMed:29897336). Interacts with ADAM17/TACE (PubMed:29897333, PubMed:29897336).SUBCELLULAR LOCATION Found in the epidermis and esophageal epithelium.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the peptidase S54 family.SEQUENCE CAUTION Extended N-terminus.SEQUENCE CAUTION Truncated N-terminus. |
| created | [InstanceEdit:384350] Kanapin, AA, 2008-11-26 14:00:39 |
| description | recommendedName: Inactive rhomboid protein 2 shortName: iRhom2 alternativeName: Rhomboid 5 homolog 2 alternativeName: Rhomboid family member 2 alternativeName: Rhomboid veinlet-like protein 5 alternativeName: Rhomboid veinlet-like protein 6 |
| geneName | RHBDF2 IRHOM2 RHBDL5 RHBDL6 |
| identifier | Q6PJF5 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Cell membrane Disease variant Endoplasmic reticulum Growth factor binding Membrane Palmoplantar keratoderma Phosphoprotein Protein transport Proteomics identification Reference proteome Transmembrane Transmembrane helix Transport |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | RHBDF2 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8997961] ENSEMBL:ENSG00000129667 RHBDF2 [Homo sapiens] |
| secondaryIdentifier | RHDF2_HUMAN A6NEM3 A8K801 Q5U607 Q5YGQ8 Q9H6E9 |
| sequenceLength | 856 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:385955] UniProt:Q6PJF5-2 RHBDF2 [Homo sapiens] [ReferenceIsoform:408593] UniProt:Q6PJF5-1 RHBDF2 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:9662859] iRHOM2 [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:9662903] iRHOM2 [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9673787] iRHOM2 [Golgi lumen] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q6PJF5 RHBDF2 (385954)
