RNF43
entrez
54894
canonical
uniprot
Q68DV7
canonical
ensembl
ENSG00000108375
resolver
ensp
ENSP00000385328
resolver
ensp
ENSP00000462447
resolver
ensp
ENSP00000462764
resolver
ensp
ENSP00000463069
resolver
ensp
ENSP00000463716
resolver
enst
ENST00000581868
resolver
genesymbol
RNF43
resolver
hgnc
HGNC:18505
resolver
uniprot
A8K4R2
resolver
uniprot
B7Z443
resolver
uniprot
B7Z5D5
resolver
uniprot
B7Z5J5
resolver
uniprot
J3KSE3
resolver
uniprot
Q65ZA4
resolver
uniprot
Q6AI04
resolver
uniprot
Q9NXD0
resolver
uniprot_entry
J3KSE3_HUMAN
resolver
uniprot_entry
RNF43_HUMAN
resolver
uniprot_sec
A8K4R2
resolver
uniprot_sec
B7Z443
resolver
uniprot_sec
B7Z5D5
resolver
uniprot_sec
B7Z5J5
resolver
uniprot_sec
Q65ZA4
resolver
uniprot_sec
Q6AI04
resolver
uniprot_sec
Q9NXD0
resolver
amino_acid_sequence
MSGGHQLQLAALWPWLLMATLQAGFGRTGLVLAAAVESERSAEQKAIIRVIPLKMDPTGKLNLTLEGVFAGVAEITPAEGKLMQSHPLYLCNASDDDNLEPGFISIVKLESPRRAPRPCLSLASKARMAGERGASAVLFDITEDRAAAEQLQQPLGLTWPVVLIWGNDAEKLMEFVYKNQKAHVRIELKEPPAWPDYDVWILMTVVGTIFVIILASVLRIRCRPRHSRPDPLQQRTAWAISQLATRRYQASCRQARGEWPDSGSSCSSAPVCAICLEEFSEGQELRVISCLHEFHRNCVDPWLHQHRTCPLCMFNITEGDSFSQSLGPSRSYQEPGRRLHLIRQHPGHAHYHLPAAYLLGPSRSAVARPPRPGPFLPSQEPGMGPRHHRFPRAAHPRAPGEQQRLAGAQHPYAQGWGLSHLQSTSQHPAACPVPLRRARPPDSSGSGESYCTERSGYLADGPASDSSSGPCHGSSSDSVVNCTDISLQGVHGSSSTFCSSLSSDFDPLVYCSPKGDPQRVDMQPSVTSRPRSLDSVVPTGETQVSSHVHYHRHRHHHYKKRFQWHGRKPGPETGVPQSRPPIPRTQPQPEPPSPDQQVTRSNSAAPSGRLSNPQCPRALPEPAPGPVDASSICPSTSSLFNLQKSSLSARHPQRKRRGGPSEPTPGSRPQDATVHPACQIFPHYTPSVAYPWSPEAHPLICGPPGLDKRLLPETPGPCYSNSQPVWLCLTPRQPLEPHPPGEGPSEWSSDTAEGRPCPYPHCQVLSAQPGSEEELEELCEQAV
uniprot
proteins
disease_involvement
DISEASE: Sessile serrated polyposis cancer syndrome (SSPCS) [MIM:617108]: A rare disease characterized by multiple and/or large serrated polyps developing in the colon, and an increased personal and familial risk of colorectal cancer. A patient is diagnosed with SSPCS if at least one of the following criteria is met: the presence of at least five sessile serrated polyps proximal to the sigmoid colon, two of which are greater than 10 mm in diameter; the presence of any number of serrated polyps occurring proximal to the sigmoid colon in an individual who has a first-degree relative with serrated polyposis; the presence of more than 20 serrated polyps of any size distributed throughout the colon. Sessile serrated polyps are also known as sessile serrated adenomas (SSA) and are estimated to be responsible for 20 to 35% of all colon cancers. Individuals with SSPCS may have a strong personal or family history of extracolonic cancers. {ECO:0000269|PubMed:24512911, ECO:0000269|PubMed:27081527}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.2.27
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:P0DPR2, ECO:0000269|PubMed:18313049, ECO:0000269|PubMed:22575959, ECO:0000269|PubMed:22895187}.
uniprot
proteins
mass_dalton
85722
uniprot
proteins
mutagenesis
MUTAGEN 290; /note="C->S: Dominant-negative mutant, loss of E3 ligase activity and activation of the Wnt signaling pathway; when associated with S-292."; /evidence="ECO:0000269|PubMed:18313049, ECO:0000269|PubMed:22895187"; MUTAGEN 292; /note="H->S: Dominant-negative mutant, loss of E3 ligase activity and activation of the Wnt signaling pathway; when associated with S-290."; /evidence="ECO:0000269|PubMed:18313049, ECO:0000269|PubMed:22895187"; MUTAGEN 295; /note="H->S: Dominant-negative mutant, loss of E3 ligase activity and activation of the Wnt signaling pathway; when associated with S-298."; /evidence="ECO:0000269|PubMed:22895187"; MUTAGEN 298; /note="C->S: Dominant-negative mutant, loss of E3 ligase activity and activation of the Wnt signaling pathway; when associated with S-295."; /evidence="ECO:0000269|PubMed:22895187
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination.
uniprot
proteins
post_translational_modification
PTM: Autoubiquitinated. {ECO:0000269|PubMed:18313049}.
uniprot
proteins
protein_family
ZNRF3 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15492824
uniprot
proteins
pubmed
15623641
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18313049
uniprot
proteins
pubmed
18655028
uniprot
proteins
pubmed
22575959
uniprot
proteins
pubmed
22895187
uniprot
proteins
pubmed
23756651
uniprot
proteins
pubmed
24512911
uniprot
proteins
pubmed
27081527
uniprot
proteins
pubmed
29769720
uniprot
proteins
sequence_length
783
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Nucleus envelope. Note=According to a report, may be secreted. {ECO:0000269|PubMed:15492824}.
uniprot
proteins
transmembrane_region
TRANSMEM 198..218; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins