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Aliases for RNF43 Gene

Aliases for RNF43 Gene

  • Ring Finger Protein 43 2 3
  • RING-Type E3 Ubiquitin Transferase RNF43 3 4
  • RING Finger Protein 43 4 5
  • E3 Ubiquitin-Protein Ligase RNF43 3
  • EC 2.3.2.27 4
  • RNF124 3
  • SSPCS 3
  • URCC 3

External Ids for RNF43 Gene

Previous GeneCards Identifiers for RNF43 Gene

  • GC17U990330
  • GC17M053787
  • GC17M056429
  • GC17M051791

Summaries for RNF43 Gene

Entrez Gene Summary for RNF43 Gene

  • The protein encoded by this gene is a RING-type E3 ubiquitin ligase and is predicted to contain a transmembrane domain, a protease-associated domain, an ectodomain, and a cytoplasmic RING domain. This protein is thought to negatively regulate Wnt signaling, and expression of this gene results in an increase in ubiquitination of frizzled receptors, an alteration in their subcellular distribution, resulting in reduced surface levels of these receptors. Mutations in this gene have been reported in multiple tumor cells, including colorectal and endometrial cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]

GeneCards Summary for RNF43 Gene

RNF43 (Ring Finger Protein 43) is a Protein Coding gene. Diseases associated with RNF43 include Hyperplastic Polyposis Syndrome and Tumor Of Exocrine Pancreas. Among its related pathways are Signaling by Wnt and Signaling by GPCR. GO annotations related to this gene include ligase activity and signal transducer activity. An important paralog of this gene is ZNRF3.

UniProtKB/Swiss-Prot for RNF43 Gene

  • 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. Acts as a tumor suppressor in the intestinal stem cell zone by inhibiting the Wnt signaling pathway, thereby resticting the size of the intestinal stem cell zone.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF43 Gene

Genomics for RNF43 Gene

Regulatory Elements for RNF43 Gene

Enhancers for RNF43 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G058389 1.9 FANTOM5 Ensembl ENCODE dbSUPER 30.7 +26.5 26531 2.5 HNRNPUL1 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 RNF43 TRIM37 ENSG00000264112 SUPT4H1 HSF5 SRSF1
GH17G058374 1.6 Ensembl ENCODE dbSUPER 20.6 +37.7 37664 10.4 HNRNPUL1 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 TRIM37 RAD51C RNF43 SUPT4H1 HSF5 LPO EPX MSX2P1 OR4D1 MTMR4
GH17G058503 1.3 Ensembl ENCODE dbSUPER 19.2 -87.4 -87351 2.4 YY1 RELA POLR2A EED ZNF143 ETV6 RELB IKZF2 MTA2 BHLHE40 TRIM37 RAD51C RNF43 SEPT4 C17orf47 SUPT4H1 MKS1 PIR59993 MTMR4
GH17G058393 1.2 ENCODE dbSUPER 20.4 +22.7 22662 2.2 HDAC1 ELF3 TBP ATF1 MLX FUS ARID4B THRB RARA GATA4 TRIM37 RAD51C RNF43 SUPT4H1 TSPOAP1 MKS1 LPO
GH17G058491 1 ENCODE 18.8 -75.1 -75055 1.9 HDGF PKNOX1 ATF1 CREB3L1 ARNT SIN3A TCF12 ZNF766 ELK1 GATA2 RNF43 VEZF1 MTMR4 PIR59993
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RNF43 on UCSC Golden Path with GeneCards custom track

Promoters for RNF43 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000096261 1094 2600 MLX CREB3L1 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3
ENSR00000096261 1119 2600 MLX CREB3L1 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3

Genomic Location for RNF43 Gene

Chromosome:
17
Start:
58,352,500 bp from pter
End:
58,417,620 bp from pter
Size:
65,121 bases
Orientation:
Minus strand

Genomic View for RNF43 Gene

Genes around RNF43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF43 Gene

Proteins for RNF43 Gene

  • Protein details for RNF43 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q68DV7-RNF43_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RNF43
    Protein Accession:
    Q68DV7
    Secondary Accessions:
    • A8K4R2
    • B7Z443
    • B7Z5D5
    • B7Z5J5
    • Q65ZA4
    • Q6AI04
    • Q9NXD0

    Protein attributes for RNF43 Gene

    Size:
    783 amino acids
    Molecular mass:
    85722 Da
    Quaternary structure:
    • Interacts with AKAP8L, NONO and SFPQ. Interacts with FZD5. Identified in a complex composed of RNF43, LGR5 and RSPO1.
    Miscellaneous:
    • Acts as a cytotoxic T-lymphocyte tumor antigen, suggesting that it may be used as a target for cancer immunotherapy.
    SequenceCaution:
    • Sequence=BAH12871.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RNF43 Gene

    Alternative splice isoforms for RNF43 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RNF43 Gene

Post-translational modifications for RNF43 Gene

No data available for DME Specific Peptides for RNF43 Gene

Domains & Families for RNF43 Gene

Gene Families for RNF43 Gene

Protein Domains for RNF43 Gene

Suggested Antigen Peptide Sequences for RNF43 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q68DV7

UniProtKB/Swiss-Prot:

RNF43_HUMAN :
  • Belongs to the ZNRF3 family.
Family:
  • Belongs to the ZNRF3 family.
genes like me logo Genes that share domains with RNF43: view

Function for RNF43 Gene

Molecular function for RNF43 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
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.
UniProtKB/Swiss-Prot 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. Acts as a tumor suppressor in the intestinal stem cell zone by inhibiting the Wnt signaling pathway, thereby resticting the size of the intestinal stem cell zone.

Enzyme Numbers (IUBMB) for RNF43 Gene

Gene Ontology (GO) - Molecular Function for RNF43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IDA 22575959
GO:0005109 frizzled binding IPI 22895187
GO:0005515 protein binding IPI 18313049
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with RNF43: view
genes like me logo Genes that share phenotypes with RNF43: view

Animal Model Products

CRISPR Products

miRNA for RNF43 Gene

miRTarBase miRNAs that target RNF43

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RNF43 Gene

Localization for RNF43 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF43 Gene

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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RNF43 gene
Compartment Confidence
plasma membrane 5
nucleus 5
endoplasmic reticulum 5
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for RNF43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with RNF43: view

Pathways & Interactions for RNF43 Gene

genes like me logo Genes that share pathways with RNF43: view

UniProtKB/Swiss-Prot Q68DV7-RNF43_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for RNF43 Gene

Activates:

Gene Ontology (GO) - Biological Process for RNF43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016055 Wnt signaling pathway IEA --
GO:0016567 protein ubiquitination IEA,IDA 22575959
GO:0030178 negative regulation of Wnt signaling pathway IMP 22575959
GO:0038018 Wnt receptor catabolic process TAS 24431302
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IDA 22895187
genes like me logo Genes that share ontologies with RNF43: view

Drugs & Compounds for RNF43 Gene

(4) Drugs for RNF43 Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tegafur Approved Pharma 96
Antimetabolites Pharma 12054
Antimetabolites, Antineoplastic Pharma 7361
Vaccines Pharma 6611
genes like me logo Genes that share compounds with RNF43: view

Transcripts for RNF43 Gene

Unigene Clusters for RNF43 Gene

Ring finger protein 43:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNF43 Gene

No ASD Table

Relevant External Links for RNF43 Gene

GeneLoc Exon Structure for
RNF43
ECgene alternative splicing isoforms for
RNF43

Expression for RNF43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RNF43 Gene

mRNA differential expression in normal tissues according to GTEx for RNF43 Gene

This gene is overexpressed in Colon - Transverse (x4.3).

NURSA nuclear receptor signaling pathways regulating expression of RNF43 Gene:

RNF43

SOURCE GeneReport for Unigene cluster for RNF43 Gene:

Hs.584916

mRNA Expression by UniProt/SwissProt for RNF43 Gene:

Q68DV7-RNF43_HUMAN
Tissue specificity: Expressed in fetal kidney, fetal lung, in colon cancer tissues, hepatocellular carcinomas and lung adenocarcinomas. Overexpressed in colorectal cancer cell lines.

Evidence on tissue expression from TISSUES for RNF43 Gene

  • Intestine(3.5)
  • Pancreas(2.1)
genes like me logo Genes that share expression patterns with RNF43: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RNF43 Gene

Orthologs for RNF43 Gene

This gene was present in the common ancestor of animals.

Orthologs for RNF43 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNF43 34 35
  • 99.36 (n)
dog
(Canis familiaris)
Mammalia RNF43 34 35
  • 89.12 (n)
cow
(Bos Taurus)
Mammalia RNF43 34 35
  • 86.04 (n)
rat
(Rattus norvegicus)
Mammalia Rnf43 34
  • 84.53 (n)
mouse
(Mus musculus)
Mammalia Rnf43 34 16 35
  • 84.23 (n)
oppossum
(Monodelphis domestica)
Mammalia RNF43 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RNF43 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNF43 34 35
  • 63.62 (n)
lizard
(Anolis carolinensis)
Reptilia RNF43 35
  • 37 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y47D3B.11 35
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8714 35
  • 25 (a)
OneToMany
Species where no ortholog for RNF43 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for RNF43 Gene

ENSEMBL:
Gene Tree for RNF43 (if available)
TreeFam:
Gene Tree for RNF43 (if available)

Paralogs for RNF43 Gene

(1) SIMAP similar genes for RNF43 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with RNF43: view

Variants for RNF43 Gene

Sequence variations from dbSNP and Humsavar for RNF43 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs786205215 Pathogenic 58,363,582(-) GTGAG(C/T)GAGGA reference, stop-gained
rs1000002261 -- 58,366,858(+) TCTCA(-/C)TCTGT intron-variant
rs1000004714 -- 58,399,842(+) TCACC(A/G)TGCTG intron-variant
rs1000036188 -- 58,415,251(+) TGGTA(G/T)TTCAT intron-variant
rs1000127164 -- 58,386,586(+) CACCT(C/G)TTCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RNF43 Gene

Variant ID Type Subtype PubMed ID
esv3554602 CNV deletion 23714750
nsv473283 CNV novel sequence insertion 20440878
nsv517229 CNV gain+loss 19592680
nsv575800 CNV gain 21841781

Variation tolerance for RNF43 Gene

Residual Variation Intolerance Score: 84.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 20.27; 99.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RNF43 Gene

Human Gene Mutation Database (HGMD)
RNF43
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF43

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF43 Gene

Disorders for RNF43 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RNF43 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hyperplastic polyposis syndrome
  • serrated polyposis
tumor of exocrine pancreas
  • malignant neoplasm of the exocrine pancreas
pancreatic intraductal papillary-mucinous neoplasm
colorectal cancer
  • colorectal cancer, somatic
- elite association - COSMIC cancer census association via MalaCards
Search RNF43 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RNF43_HUMAN
  • 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 variations affecting the gene represented in this entry.

Relevant External Links for RNF43

Genetic Association Database (GAD)
RNF43
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RNF43
genes like me logo Genes that share disorders with RNF43: view

No data available for Genatlas for RNF43 Gene

Publications for RNF43 Gene

  1. A novel oncoprotein RNF43 functions in an autocrine manner in colorectal cancer. (PMID: 15492824) Yagyu R. … Nakamura Y. (Int. J. Oncol. 2004) 3 4 22 64
  2. Ring finger protein 43 as a new target for cancer immunotherapy. (PMID: 15623641) Uchida N. … Tahara H. (Clin. Cancer Res. 2004) 3 4 22 64
  3. The structural basis of R-spondin recognition by LGR5 and RNF43. (PMID: 23756651) Chen P.H. … He X. (Genes Dev. 2013) 3 4 64
  4. Tumour suppressor RNF43 is a stem-cell E3 ligase that induces endocytosis of Wnt receptors. (PMID: 22895187) Koo B.K. … Clevers H. (Nature 2012) 3 4 64
  5. ZNRF3 promotes Wnt receptor turnover in an R-spondin-sensitive manner. (PMID: 22575959) Hao H.X. … Cong F. (Nature 2012) 3 4 64

Products for RNF43 Gene

Sources for RNF43 Gene

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