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Details on Person UniProt:Q68DV7 RNF43
| Class:Id | ReferenceGeneProduct:246257 |
|---|---|
| _chainChangeLog | signal peptide:1-23 added on Sat February 7 2015;chain:24-783 added on Sat February 7 2015 |
| _displayName | UniProt:Q68DV7 RNF43 |
| _timestamp | 2024-11-03 20:02:56 |
| chain | signal peptide:1-23 chain:24-783 |
| checksum | 4E87EA0CC359C858 |
| comment | FUNCTION E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination, endocytosis and subsequent degradation of Wnt receptor complex components Frizzled. Acts on both canonical and non-canonical Wnt signaling pathway (PubMed:18313049, PubMed:22575959, PubMed:22895187). Along with RSPO2 and ZNRF3, constitutes a master switch that governs limb specification (By similarity).CATALYTIC ACTIVITY S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.PATHWAY Protein modification; protein ubiquitination.SUBUNIT Interacts with AKAP8L, NONO and SFPQ (PubMed:18313049, PubMed:18655028). Interacts with FZD5 (PubMed:22895187). Identified in a complex composed of RNF43, LGR5 and RSPO1 (PubMed:23756651). Interacts with RSPO2 (PubMed:29769720). Interacts with LMBR1L (By similarity).INTERACTION According to a report, may be secreted.ALTERNATIVE PRODUCTS Expressed in fetal kidney, fetal lung, in colon cancer tissues, hepatocellular carcinomas and lung adenocarcinomas. Overexpressed in colorectal cancer cell lines.PTM Autoubiquitinated.DISEASE Disease susceptibility may be associated with variants affecting the gene represented in this entry.MISCELLANEOUS Acts as a cytotoxic T-lymphocyte tumor antigen, suggesting that it may be used as a target for cancer immunotherapy.SIMILARITY Belongs to the ZNRF3 family.SEQUENCE CAUTION Truncated N-terminus. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: E3 ubiquitin-protein ligase RNF43 ecNumber: 2.3.2.27 alternativeName: RING finger protein 43 alternativeName: fullName evidence="18"RING-type E3 ubiquitin transferase RNF43 |
| geneName | RNF43 |
| identifier | Q68DV7 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Cell membrane Developmental protein Disulfide bond Endoplasmic reticulum Glycoprotein Membrane Metal-binding Nucleus Proteomics identification Reference proteome Signal Transferase Transmembrane Transmembrane helix Ubl conjugation Ubl conjugation pathway Wnt signaling pathway Zinc Zinc-finger |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | RNF43 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8989192] ENSEMBL:ENSG00000108375 RNF43 [Homo sapiens] |
| secondaryIdentifier | RNF43_HUMAN A8K4R2 B7Z443 B7Z5D5 B7Z5J5 Q65ZA4 Q6AI04 Q9NXD0 |
| sequenceLength | 783 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:423425] UniProt:Q68DV7-1 RNF43 [Homo sapiens] [ReferenceIsoform:423426] UniProt:Q68DV7-2 RNF43 [Homo sapiens] [ReferenceIsoform:423427] UniProt:Q68DV7-3 RNF43 [Homo sapiens] [ReferenceIsoform:423428] UniProt:Q68DV7-4 RNF43 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:5323531] RNF43 [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5323547] ub-RNF43 [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5340574] RNF43 E174* [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5340578] RNF43 F69C [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5340581] RNF43 R330fs*89 [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:9666639] RNF43 A169T [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:9666643] RNF43 G659Vfs*41 [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:9666646] RNF43 P154L [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:9666650] RNF43 R132* [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:9666664] RNF43 R117Afs*41 [plasma membrane] [Homo sapiens] |
| (referenceSequence) | [ModifiedResidue:5323548] ubiquitinylated lysine at unknown position [NonsenseMutation:5340539] Nonsense mutation at L-glutamic acid 174 [ReplacedResidue:5340577] L-phenylalanine 69 replaced with L-cysteine [FragmentReplacedModification:5340580] Replacement of residues 330 to 417 by HLTKNQVEDSTSFASIPAMPTTTSLLPTCWALPGVQWLGPHDLVPSCHPRSQAWALGITASPELHIPGLQESSSAWQEPSTPMHKAGD [ReplacedResidue:9666552] L-proline 154 replaced with L-leucine [FragmentReplacedModification:9666556] Replacement of residues 117 to 156 by APACHWLARLGWRVSEEPVLSSLTSLRIELLLSSCSSRWG [FragmentReplacedModification:9666558] Replacement of residues 659 to 698 by VPPSPPLALGPRMQLCTQLARFFPITPPVWHILGPQRHTP [ReplacedResidue:9666641] L-alanine 169 replaced with L-threonine [NonsenseMutation:9766422] Nonsense mutation at L-arginine 132 |
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No pathways have been reviewed or authored by UniProt:Q68DV7 RNF43 (246257)
