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Aliases for RNF43 Gene

Aliases for RNF43 Gene

  • Ring Finger Protein 43 2 3
  • RING Finger Protein 43 4 5
  • EC 6.3.2.- 4
  • RNF124 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 colorectal cancer. Among its related pathways are Signaling by GPCR and Infectious disease. GO annotations related to this gene include ligase activity and signal transducer activity. An important paralog of this gene is RNF167.

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 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

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

Proteomics data for RNF43 Gene at MOPED

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

InterPro:
Blocks:
ProtoNet:

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.
  • Contains 1 RING-type zinc finger.
Family:
  • Belongs to the ZNRF3 family.
Similarity:
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with RNF43: view

Function for RNF43 Gene

Molecular function for RNF43 Gene

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:0016874 ligase 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

miRNA for RNF43 Gene

miRTarBase miRNAs that target RNF43

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
Jensen Localization Image for RNF43 Gene COMPARTMENTS Subcellular localization image for RNF43 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 5
plasma membrane 5
cytoskeleton 1
cytosol 1
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for RNF43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IDA 22575959
GO:0016021 integral component of membrane IEA --
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:0016567 protein ubiquitination IDA 22575959
GO:0038018 Wnt receptor catabolic process IDA,TAS 24431302
genes like me logo Genes that share ontologies with RNF43: view

Drugs & Compounds for RNF43 Gene

(2) Drugs for RNF43 Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tegafur Pharma 79
Vaccines Pharma 6085
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:

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 for RNF43 Gene

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

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

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.
genes like me logo Genes that share expression patterns with RNF43: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia RNF43 35
  • 86.04 (n)
  • 86.21 (a)
RNF43 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RNF43 35
  • 89.12 (n)
  • 87.52 (a)
RNF43 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rnf43 35
  • 84.23 (n)
  • 82.44 (a)
Rnf43 16
Rnf43 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RNF43 35
  • 99.36 (n)
  • 99.11 (a)
RNF43 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rnf43 35
  • 84.53 (n)
  • 83.46 (a)
oppossum
(Monodelphis domestica)
Mammalia RNF43 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RNF43 36
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNF43 35
  • 63.62 (n)
  • 59.77 (a)
RNF43 36
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RNF43 36
  • 37 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y47D3B.11 36
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8714 36
  • 25 (a)
OneToMany
Species with no ortholog for RNF43:
  • 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
rs3744093 - 58,415,439(-) AAGCT(A/G)TTATC intron-variant, reference, missense
rs2257205 - 58,370,936(-) CCCCC(A/G/T)CCCCT reference, missense, utr-variant-5-prime
rs2285990 - 58,362,569(-) CATCC(A/G)GTGCC reference, missense
rs2680701 - 58,360,940(-) GGATC(C/T)GCTTC reference, missense
rs2526374 - 58,358,524(-) GGGGA(A/C)TGAGC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv517229 CNV Gain+Loss 19592680
nsv908641 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
RNF43
Human Gene Mutation Database (HGMD)
RNF43

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

Disorders for RNF43 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RNF43 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
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

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 UniProtKB/Swiss-Prot and 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 23 67
  2. Ring finger protein 43 as a new target for cancer immunotherapy. (PMID: 15623641) Uchida N. … Tahara H. (Clin. Cancer Res. 2004) 3 23
  3. Molecular Role of RNF43 in Canonical and Noncanonical Wnt Signaling. (PMID: 25825523) Tsukiyama T. … Hatakeyama S. (Mol. Cell. Biol. 2015) 3
  4. Dishevelled promotes Wnt receptor degradation through recruitment of ZNRF3/RNF43 E3 ubiquitin ligases. (PMID: 25891077) Jiang X. … Cong F. (Mol. Cell 2015) 3
  5. Wnt signaling in midbrain dopaminergic neuron development and regenerative medicine for Parkinson's disease. (PMID: 24431302) Arenas E. (J Mol Cell Biol 2014) 3

Products for RNF43 Gene

Sources for RNF43 Gene

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