Reactome | UniProt:Q68DV7 RNF43

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
crossReference	[DatabaseIdentifier:10973458] Pharos - Targets:Q68DV7 [DatabaseIdentifier:11058769] OpenTargets:ENSG00000108375 [DatabaseIdentifier:11623435] RefSeq:NP_001292473.1 [DatabaseIdentifier:11623444] RefSeq:NP_001292474.1 [DatabaseIdentifier:11623445] RefSeq:NP_060233.3 [DatabaseIdentifier:11623453] RefSeq:XP_011523257.1 [DatabaseIdentifier:11623454] RefSeq:XP_016880289.1 [DatabaseIdentifier:11775287] PDB:4KNG [DatabaseIdentifier:11816241] PRO:Q68DV7 [DatabaseIdentifier:11844155] GeneCards:Q68DV7 [DatabaseIdentifier:11882276] Orphanet:23681 [DatabaseIdentifier:11896289] HPA:ENSG00000108375-RNF43 [DatabaseIdentifier:12004765] Ensembl:ENSP00000462502 [DatabaseIdentifier:12004766] Ensembl:ENST00000577716 [DatabaseIdentifier:12004767] Ensembl:ENST00000407977 [DatabaseIdentifier:12004768] Ensembl:ENST00000583753 [DatabaseIdentifier:12004769] Ensembl:ENSP00000463716 [DatabaseIdentifier:12004770] Ensembl:ENST00000584437 [DatabaseIdentifier:12004771] Ensembl:ENST00000577625 [DatabaseIdentifier:12004772] Ensembl:ENSP00000385328 [DatabaseIdentifier:12004773] Ensembl:ENSG00000108375 [DatabaseIdentifier:12004774] Ensembl:ENSP00000463069 [DatabaseIdentifier:12004775] Ensembl:ENSP00000462764
databaseName	UniProt
dbId	246257
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
displayName	UniProt:Q68DV7 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 Reference proteome Signal Transferase Transmembrane Transmembrane helix Ubl conjugation Ubl conjugation pathway Wnt signaling pathway Zinc Zinc-finger
modified	[InstanceEdit:12187927] Wright, Adam, 2024-03-12
name	RNF43
otherIdentifier	11720449_a_at 11720450_a_at 11750672_a_at 11756284_x_at 11758834_at 16847095 218704_PM_at 218704_at 3764400 3764401 3764402 3764409 3764410 3764411 3764412 3764414 3764416 3764418 3764419 3764431 3764435 3764436 3764437 3764438 3764439 3764440 3764441 3764442 45538_s_at 49316_at 54894 8016994 A_23_P3934 A_33_P3213029 GE82218 GO:0003824 GO:0004842 GO:0005109 GO:0005515 GO:0005634 GO:0005635 GO:0005783 GO:0005789 GO:0005886 GO:0006511 GO:0016020 GO:0016055 GO:0016567 GO:0016740 GO:0023052 GO:0030163 GO:0030178 GO:0036211 GO:0038018 GO:0043226 GO:0046872 GO:0061630 GO:0072089 GO:0140096 HMNXSV003017390 ILMN_1700606 PH_hs_0031041 TC17001732.hg g8923298_3p_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-5340574] RNF43 E174* [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5340581] RNF43 R330fs89 [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9666639] RNF43 A169T [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9666664] RNF43 R117Afs41 [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9666650] RNF43 R132* [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9666646] RNF43 P154L [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5340578] RNF43 F69C [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5323531] RNF43 [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5323547] ub-RNF43 [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9666643] RNF43 G659Vfs*41 [plasma membrane] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:8989192] ENSEMBL:ENSG00000108375 RNF43 [ReferenceDNASequence:11029519] KEGG Gene (Homo sapiens):54894 RNF43 [ReferenceDNASequence:11275487] NCBI Gene:54894 RNF43 [ReferenceDNASequence:11275488] BioGPS Gene:54894 RNF43 [ReferenceDNASequence:11275489] CTD Gene:54894 RNF43 [ReferenceDNASequence:11275490] dbSNP Gene:54894 RNF43 [ReferenceDNASequence:11275491] Monarch:54894 RNF43 [ReferenceDNASequence:11353110] ENSEMBL_homo_sapiens_GENE:ENSG00000108375.13 RNF43 [ReferenceDNASequence:11519387] UCSC:Q68DV7 RNF43 [ReferenceDNASequence:11803534] OMIM:612482 RNF43 [ReferenceDNASequence:11871508] HGNC:18505 RNF43 [ReferenceDNASequence:12189204] COSMIC (genes):RNF43 RNF43
referenceTranscript	[ReferenceRNASequence:11460967] RefSeq:NM_001305544.1 RNF43 [ReferenceRNASequence:11460974] RefSeq:NM_001305545.1 RNF43 [ReferenceRNASequence:11460978] RefSeq:NM_017763.5 RNF43 [ReferenceRNASequence:11460986] RefSeq:XM_011524955.2 RNF43 [ReferenceRNASequence:11460990] RefSeq:XM_017024800.1 RNF43
schemaClass	ReferenceGeneProduct
secondaryIdentifier	RNF43_HUMAN A8K4R2 B7Z443 B7Z5D5 B7Z5J5 Q65ZA4 Q6AI04 Q9NXD0
sequenceLength	783
species	[Species:48887] Homo sapiens
url	https://purl.uniprot.org/uniprot/Q68DV7

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-5340574] RNF43 E174* [plasma membrane] [EntityWithAccessionedSequence:R-HSA-5340581] RNF43 R330fs89 [plasma membrane] [EntityWithAccessionedSequence:R-HSA-9666639] RNF43 A169T [plasma membrane] [EntityWithAccessionedSequence:R-HSA-9666664] RNF43 R117Afs41 [plasma membrane] [EntityWithAccessionedSequence:R-HSA-9666650] RNF43 R132* [plasma membrane] [EntityWithAccessionedSequence:R-HSA-9666646] RNF43 P154L [plasma membrane] [EntityWithAccessionedSequence:R-HSA-5340578] RNF43 F69C [plasma membrane] [EntityWithAccessionedSequence:R-HSA-5323531] RNF43 [plasma membrane] [EntityWithAccessionedSequence:R-HSA-5323547] ub-RNF43 [plasma membrane] [EntityWithAccessionedSequence:R-HSA-9666643] RNF43 G659Vfs*41 [plasma membrane]
(referenceSequence)	[NonsenseMutation:5340539] Nonsense mutation at L-glutamic acid 174 [FragmentReplacedModification:5340580] Replacement of residues 330 to 417 by HLTKNQVEDSTSFASIPAMPTTTSLLPTCWALPGVQWLGPHDLVPSCHPRSQAWALGITASPELHIPGLQESSSAWQEPSTPMHKAGD [ReplacedResidue:9666641] L-alanine 169 replaced with L-threonine [FragmentReplacedModification:9666556] Replacement of residues 117 to 156 by APACHWLARLGWRVSEEPVLSSLTSLRIELLLSSCSSRWG [NonsenseMutation:9766422] Nonsense mutation at L-arginine 132 [ReplacedResidue:9666552] L-proline 154 replaced with L-leucine [ModifiedResidue:5323548] ubiquitinylated lysine at unknown position [FragmentReplacedModification:9666558] Replacement of residues 659 to 698 by VPPSPPLALGPRMQLCTQLARFFPITPPVWHILGPQRHTP [ReplacedResidue:5340577] L-phenylalanine 69 replaced with L-cysteine
(interactor)	[UndirectedInteraction:12325243] UniProt:Q9ULX6 <-> UniProt:Q68DV7 (IntAct) [UndirectedInteraction:12311989] UniProt:P23246 <-> UniProt:Q68DV7 (IntAct) [UndirectedInteraction:12284343] UniProt:P61077 <-> UniProt:Q68DV7 (IntAct)

UniProt:Q68DV7 RNF43 Show undefined attributes

Referrals