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Entry version 148 (11 Dec 2019)
Sequence version 1 (11 Oct 2004)
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Protein

E3 ubiquitin-protein ligase RNF43

Gene

RNF43

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).By similarity3 Publications

Miscellaneous

Acts as a cytotoxic T-lymphocyte tumor antigen, suggesting that it may be used as a target for cancer immunotherapy.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

  • 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. EC:2.3.2.27

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri272 – 313RING-type; atypicalPROSITE-ProRule annotationAdd BLAST42

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, Transferase
Biological processUbl conjugation pathway, Wnt signaling pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.3.2.B10 2681
6.3.2.19 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-4641263 Regulation of FZD by ubiquitination
R-HSA-5340588 RNF mutants show enhanced WNT signaling and proliferation

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q68DV7

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00143

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
E3 ubiquitin-protein ligase RNF43 (EC:2.3.2.27)
Alternative name(s):
RING finger protein 43
RING-type E3 ubiquitin transferase RNF43Curated
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RNF43
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000108375.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18505 RNF43

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612482 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q68DV7

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini24 – 197ExtracellularSequence analysisAdd BLAST174
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei198 – 218HelicalSequence analysisAdd BLAST21
Topological domaini219 – 783CytoplasmicSequence analysisAdd BLAST565

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Sessile serrated polyposis cancer syndrome (SSPCS)2 Publications
Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi290C → S: Dominant-negative mutant, loss of E3 ligase activity and activation of the Wnt signaling pathway; when associated with S-292. 2 Publications1
Mutagenesisi292H → S: Dominant-negative mutant, loss of E3 ligase activity and activation of the Wnt signaling pathway; when associated with S-290. 2 Publications1
Mutagenesisi295H → S: Dominant-negative mutant, loss of E3 ligase activity and activation of the Wnt signaling pathway; when associated with S-298. 1 Publication1
Mutagenesisi298C → S: Dominant-negative mutant, loss of E3 ligase activity and activation of the Wnt signaling pathway; when associated with S-295. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
54894

MalaCards human disease database

More...
MalaCardsi
RNF43
MIMi617108 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000108375

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
157798 Hyperplastic polyposis syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA34441

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q68DV7 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RNF43

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74757361

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 23Sequence analysisAdd BLAST23
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000027823924 – 783E3 ubiquitin-protein ligase RNF43Add BLAST760

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi62N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi91 ↔ 119Combined sources1 Publication
Glycosylationi92N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Autoubiquitinated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q68DV7

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q68DV7

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q68DV7

PeptideAtlas

More...
PeptideAtlasi
Q68DV7

PRoteomics IDEntifications database

More...
PRIDEi
Q68DV7

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
66105 [Q68DV7-1]
66106 [Q68DV7-2]
66107 [Q68DV7-3]
66108 [Q68DV7-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q68DV7

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q68DV7

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in fetal kidney, fetal lung, in colon cancer tissues, hepatocellular carcinomas and lung adenocarcinomas. Overexpressed in colorectal cancer cell lines.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000108375 Expressed in 143 organ(s), highest expression level in colonic mucosa

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q68DV7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q68DV7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA008079

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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).

By similarity5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120241, 24 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q68DV7

Protein interaction database and analysis system

More...
IntActi
Q68DV7, 15 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000463069

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q68DV7 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1783
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q68DV7

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi443 – 503Ser-richAdd BLAST61
Compositional biasi547 – 557His-richAdd BLAST11
Compositional biasi569 – 760Pro-richAdd BLAST192

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ZNRF3 family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri272 – 313RING-type; atypicalPROSITE-ProRule annotationAdd BLAST42

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0800 Eukaryota
ENOG41121N2 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154006

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q68DV7

KEGG Orthology (KO)

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KOi
K15694

Database of Orthologous Groups

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OrthoDBi
1487241at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q68DV7

TreeFam database of animal gene trees

More...
TreeFami
TF317074

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
IPR040700 ZNRF-3_ecto

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13639 zf-RING_2, 1 hit
PF18212 ZNRF_3_ecto, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00184 RING, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50089 ZF_RING_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q68DV7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSGGHQLQLA ALWPWLLMAT LQAGFGRTGL VLAAAVESER SAEQKAIIRV
60 70 80 90 100
IPLKMDPTGK LNLTLEGVFA GVAEITPAEG KLMQSHPLYL CNASDDDNLE
110 120 130 140 150
PGFISIVKLE SPRRAPRPCL SLASKARMAG ERGASAVLFD ITEDRAAAEQ
160 170 180 190 200
LQQPLGLTWP VVLIWGNDAE KLMEFVYKNQ KAHVRIELKE PPAWPDYDVW
210 220 230 240 250
ILMTVVGTIF VIILASVLRI RCRPRHSRPD PLQQRTAWAI SQLATRRYQA
260 270 280 290 300
SCRQARGEWP DSGSSCSSAP VCAICLEEFS EGQELRVISC LHEFHRNCVD
310 320 330 340 350
PWLHQHRTCP LCMFNITEGD SFSQSLGPSR SYQEPGRRLH LIRQHPGHAH
360 370 380 390 400
YHLPAAYLLG PSRSAVARPP RPGPFLPSQE PGMGPRHHRF PRAAHPRAPG
410 420 430 440 450
EQQRLAGAQH PYAQGWGLSH LQSTSQHPAA CPVPLRRARP PDSSGSGESY
460 470 480 490 500
CTERSGYLAD GPASDSSSGP CHGSSSDSVV NCTDISLQGV HGSSSTFCSS
510 520 530 540 550
LSSDFDPLVY CSPKGDPQRV DMQPSVTSRP RSLDSVVPTG ETQVSSHVHY
560 570 580 590 600
HRHRHHHYKK RFQWHGRKPG PETGVPQSRP PIPRTQPQPE PPSPDQQVTR
610 620 630 640 650
SNSAAPSGRL SNPQCPRALP EPAPGPVDAS SICPSTSSLF NLQKSSLSAR
660 670 680 690 700
HPQRKRRGGP SEPTPGSRPQ DATVHPACQI FPHYTPSVAY PWSPEAHPLI
710 720 730 740 750
CGPPGLDKRL LPETPGPCYS NSQPVWLCLT PRQPLEPHPP GEGPSEWSSD
760 770 780
TAEGRPCPYP HCQVLSAQPG SEEELEELCE QAV
Length:783
Mass (Da):85,722
Last modified:October 11, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4E87EA0CC359C858
GO
Isoform 2 (identifier: Q68DV7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     85-125: Missing.

Show »
Length:742
Mass (Da):81,229
Checksum:i7A177F5F2AC13F1B
GO
Isoform 3 (identifier: Q68DV7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-127: Missing.

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Length:656
Mass (Da):72,106
Checksum:i6278F14330DC2A94
GO
Isoform 4 (identifier: Q68DV7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     771-783: SEEELEELCEQAV → EFSEGSGCGR...WKAGCDGSCL

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Length:869
Mass (Da):95,038
Checksum:iAFB4B8ECFA217C83
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KSE3J3KSE3_HUMAN
E3 ubiquitin-protein ligase RNF43
RNF43
742Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAH12871 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti225R → H in BAH12429 (PubMed:14702039).Curated1
Sequence conflicti313M → V in BAD51435 (PubMed:15492824).Curated1
Sequence conflicti313M → V in BAA91085 (PubMed:14702039).Curated1
Sequence conflicti401E → K in BAH12429 (PubMed:14702039).Curated1
Sequence conflicti600R → G in BAD51435 (PubMed:15492824).Curated1
Sequence conflicti600R → G in BAA91085 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03071347I → V1 PublicationCorresponds to variant dbSNP:rs3744093EnsemblClinVar.1
Natural variantiVAR_030714117R → H. Corresponds to variant dbSNP:rs2257205Ensembl.1
Natural variantiVAR_030715221R → Q. Corresponds to variant dbSNP:rs2285990Ensembl.1
Natural variantiVAR_030716231P → L2 PublicationsCorresponds to variant dbSNP:rs2680701Ensembl.1
Natural variantiVAR_052103343R → H. Corresponds to variant dbSNP:rs34523089Ensembl.1
Natural variantiVAR_030717418L → M2 PublicationsCorresponds to variant dbSNP:rs2526374EnsemblClinVar.1
Natural variantiVAR_030718686P → R1 PublicationCorresponds to variant dbSNP:rs9652855Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0373381 – 127Missing in isoform 3. 1 PublicationAdd BLAST127
Alternative sequenceiVSP_03733985 – 125Missing in isoform 2. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_037340771 – 783SEEEL…CEQAV → EFSEGSGCGRERRLQLNISG QVKSANKGLMEAEKDTAEMT TKILNHRDSVSCWLECRNTP PLPGATPLVGRSQGGPREVL VWLRHQKGTWKAGCDGSCL in isoform 4. 1 PublicationAdd BLAST13

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AB081837 mRNA Translation: BAD51435.1
AK000322 mRNA Translation: BAA91085.1
AK291027 mRNA Translation: BAF83716.1
AK296769 mRNA Translation: BAH12429.1
AK298789 mRNA Translation: BAH12871.1 Different initiation.
AK299024 mRNA Translation: BAH12931.1
CR627423 mRNA Translation: CAH10510.1
CR749257 mRNA Translation: CAH18113.1
BC109028 mRNA Translation: AAI09029.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS11607.1 [Q68DV7-1]
CCDS82172.1 [Q68DV7-3]

NCBI Reference Sequences

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RefSeqi
NP_001292473.1, NM_001305544.1 [Q68DV7-1]
NP_001292474.1, NM_001305545.1 [Q68DV7-3]
NP_060233.3, NM_017763.5 [Q68DV7-1]
XP_011523257.1, XM_011524955.2 [Q68DV7-4]
XP_016880289.1, XM_017024800.1 [Q68DV7-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000407977; ENSP00000385328; ENSG00000108375 [Q68DV7-1]
ENST00000577625; ENSP00000463716; ENSG00000108375 [Q68DV7-3]
ENST00000577716; ENSP00000462764; ENSG00000108375 [Q68DV7-1]
ENST00000583753; ENSP00000462502; ENSG00000108375 [Q68DV7-2]
ENST00000584437; ENSP00000463069; ENSG00000108375 [Q68DV7-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
54894

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:54894

UCSC genome browser

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UCSCi
uc002iwf.4 human [Q68DV7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB081837 mRNA Translation: BAD51435.1
AK000322 mRNA Translation: BAA91085.1
AK291027 mRNA Translation: BAF83716.1
AK296769 mRNA Translation: BAH12429.1
AK298789 mRNA Translation: BAH12871.1 Different initiation.
AK299024 mRNA Translation: BAH12931.1
CR627423 mRNA Translation: CAH10510.1
CR749257 mRNA Translation: CAH18113.1
BC109028 mRNA Translation: AAI09029.1
CCDSiCCDS11607.1 [Q68DV7-1]
CCDS82172.1 [Q68DV7-3]
RefSeqiNP_001292473.1, NM_001305544.1 [Q68DV7-1]
NP_001292474.1, NM_001305545.1 [Q68DV7-3]
NP_060233.3, NM_017763.5 [Q68DV7-1]
XP_011523257.1, XM_011524955.2 [Q68DV7-4]
XP_016880289.1, XM_017024800.1 [Q68DV7-4]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4KNGX-ray2.50E/F44-198[»]
SMRiQ68DV7
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi120241, 24 interactors
CORUMiQ68DV7
IntActiQ68DV7, 15 interactors
STRINGi9606.ENSP00000463069

PTM databases

iPTMnetiQ68DV7
PhosphoSitePlusiQ68DV7

Polymorphism and mutation databases

BioMutaiRNF43
DMDMi74757361

Proteomic databases

jPOSTiQ68DV7
MassIVEiQ68DV7
PaxDbiQ68DV7
PeptideAtlasiQ68DV7
PRIDEiQ68DV7
ProteomicsDBi66105 [Q68DV7-1]
66106 [Q68DV7-2]
66107 [Q68DV7-3]
66108 [Q68DV7-4]

Genome annotation databases

EnsembliENST00000407977; ENSP00000385328; ENSG00000108375 [Q68DV7-1]
ENST00000577625; ENSP00000463716; ENSG00000108375 [Q68DV7-3]
ENST00000577716; ENSP00000462764; ENSG00000108375 [Q68DV7-1]
ENST00000583753; ENSP00000462502; ENSG00000108375 [Q68DV7-2]
ENST00000584437; ENSP00000463069; ENSG00000108375 [Q68DV7-1]
GeneIDi54894
KEGGihsa:54894
UCSCiuc002iwf.4 human [Q68DV7-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
54894
DisGeNETi54894
EuPathDBiHostDB:ENSG00000108375.12

GeneCards: human genes, protein and diseases

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GeneCardsi
RNF43
HGNCiHGNC:18505 RNF43
HPAiHPA008079
MalaCardsiRNF43
MIMi612482 gene
617108 phenotype
neXtProtiNX_Q68DV7
OpenTargetsiENSG00000108375
Orphaneti157798 Hyperplastic polyposis syndrome
PharmGKBiPA34441

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0800 Eukaryota
ENOG41121N2 LUCA
GeneTreeiENSGT00940000154006
InParanoidiQ68DV7
KOiK15694
OrthoDBi1487241at2759
PhylomeDBiQ68DV7
TreeFamiTF317074

Enzyme and pathway databases

UniPathwayiUPA00143
BRENDAi2.3.2.B10 2681
6.3.2.19 2681
ReactomeiR-HSA-4641263 Regulation of FZD by ubiquitination
R-HSA-5340588 RNF mutants show enhanced WNT signaling and proliferation
SIGNORiQ68DV7

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
RNF43 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
54894
PharosiQ68DV7 Tbio

Protein Ontology

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PROi
PR:Q68DV7
RNActiQ68DV7 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000108375 Expressed in 143 organ(s), highest expression level in colonic mucosa
ExpressionAtlasiQ68DV7 baseline and differential
GenevisibleiQ68DV7 HS

Family and domain databases

Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
IPR040700 ZNRF-3_ecto
PfamiView protein in Pfam
PF13639 zf-RING_2, 1 hit
PF18212 ZNRF_3_ecto, 1 hit
SMARTiView protein in SMART
SM00184 RING, 1 hit
PROSITEiView protein in PROSITE
PS50089 ZF_RING_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRNF43_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q68DV7
Secondary accession number(s): A8K4R2
, B7Z443, B7Z5D5, B7Z5J5, Q65ZA4, Q6AI04, Q9NXD0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: October 11, 2004
Last modified: December 11, 2019
This is version 148 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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