Human Gene RNF43 (ENST00000407977.7) from GENCODE V44
  Description: Homo sapiens ring finger protein 43 (RNF43), transcript variant 1, mRNA. (from RefSeq NM_017763)
RefSeq Summary (NM_017763): 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].
Gencode Transcript: ENST00000407977.7
Gencode Gene: ENSG00000108375.13
Transcript (Including UTRs)
   Position: hg38 chr17:58,353,676-58,417,534 Size: 63,859 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg38 chr17:58,354,943-58,415,577 Size: 60,635 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:58,353,676-58,417,534)mRNA (may differ from genome)Protein (783 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RNF43_HUMAN
DESCRIPTION: RecName: Full=E3 ubiquitin-protein ligase RNF43; EC=6.3.2.-; AltName: Full=RING finger protein 43; Flags: Precursor;
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.
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: Interacts with AKAP8L, NONO and SFPQ. Interacts with FZD5.
INTERACTION: Q9ULX6:AKAP8L; NbExp=2; IntAct=EBI-1647060, EBI-357530; P0CG47:UBB; NbExp=2; IntAct=EBI-1647060, EBI-413034; P62837:UBE2D2; NbExp=2; IntAct=EBI-1647060, EBI-347677; P61077:UBE2D3; NbExp=2; IntAct=EBI-1647060, EBI-348268;
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 (PubMed:15492824).
TISSUE SPECIFICITY: Expressed in fetal kidney, fetal lung, in colon cancer tissues, hepatocellular carcinomas and lung adenocarcinomas. Overexpressed in colorectal cancer cell lines.
PTM: Autoubiquitinated.
MISCELLANEOUS: Acts as a cytotoxic T-lymphocyte tumor antigen, suggesting that it may be used as a target for cancer immunotherapy (PubMed:15623641).
SIMILARITY: Belongs to the ZNRF3 family.
SIMILARITY: Contains 1 RING-type zinc finger.
SEQUENCE CAUTION: Sequence=BAH12871.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RNF43
Diseases sorted by gene-association score: sessile serrated polyposis cancer syndrome* (920), hyperplastic polyposis syndrome* (350), pancreatic intraductal papillary-mucinous neoplasm (16), tumor of exocrine pancreas (11), colorectal cancer (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.20 RPKM in Small Intestine - Terminal Ileum
Total median expression: 64.97 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -244.80903-0.271 Picture PostScript Text
3' UTR -452.801267-0.357 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001841 - Znf_RING
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF13639 - Ring finger domain

ModBase Predicted Comparative 3D Structure on Q68DV7
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity
GO:0005109 frizzled binding
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0046872 metal ion binding
GO:0061630 ubiquitin protein ligase activity

Biological Process:
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0016055 Wnt signaling pathway
GO:0016567 protein ubiquitination
GO:0030178 negative regulation of Wnt signaling pathway
GO:0038018 Wnt receptor catabolic process
GO:0072089 stem cell proliferation

Cellular Component:
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AB081837 - Homo sapiens urcc mRNA, complete cds.
AK000322 - Homo sapiens cDNA FLJ20315 fis, clone HEP07873.
CR749257 - Homo sapiens mRNA; cDNA DKFZp781H02126 (from clone DKFZp781H02126).
CR627423 - Homo sapiens mRNA; cDNA DKFZp781H0392 (from clone DKFZp781H0392).
JD347962 - Sequence 328986 from Patent EP1572962.
JD433525 - Sequence 414549 from Patent EP1572962.
JD054340 - Sequence 35364 from Patent EP1572962.
JD439532 - Sequence 420556 from Patent EP1572962.
JD195780 - Sequence 176804 from Patent EP1572962.
JD341300 - Sequence 322324 from Patent EP1572962.
JD347175 - Sequence 328199 from Patent EP1572962.
JD046704 - Sequence 27728 from Patent EP1572962.
JD279598 - Sequence 260622 from Patent EP1572962.
JD068396 - Sequence 49420 from Patent EP1572962.
JD410162 - Sequence 391186 from Patent EP1572962.
JD126896 - Sequence 107920 from Patent EP1572962.
JD521779 - Sequence 502803 from Patent EP1572962.
JD219302 - Sequence 200326 from Patent EP1572962.
AK296769 - Homo sapiens cDNA FLJ50102 complete cds.
JD501735 - Sequence 482759 from Patent EP1572962.
AK291027 - Homo sapiens cDNA FLJ77466 complete cds.
JD118631 - Sequence 99655 from Patent EP1572962.
JD455305 - Sequence 436329 from Patent EP1572962.
JD459373 - Sequence 440397 from Patent EP1572962.
JD464120 - Sequence 445144 from Patent EP1572962.
JD423559 - Sequence 404583 from Patent EP1572962.
JD078008 - Sequence 59032 from Patent EP1572962.
JD446131 - Sequence 427155 from Patent EP1572962.
JD427172 - Sequence 408196 from Patent EP1572962.
JD539288 - Sequence 520312 from Patent EP1572962.
JD204176 - Sequence 185200 from Patent EP1572962.
BC109028 - Homo sapiens ring finger protein 43, mRNA (cDNA clone MGC:125630 IMAGE:40027722), complete cds.
JD565097 - Sequence 546121 from Patent EP1572962.
JD365213 - Sequence 346237 from Patent EP1572962.
JD470296 - Sequence 451320 from Patent EP1572962.
JD276698 - Sequence 257722 from Patent EP1572962.
JD160030 - Sequence 141054 from Patent EP1572962.
JD464818 - Sequence 445842 from Patent EP1572962.
JD158499 - Sequence 139523 from Patent EP1572962.
JD183168 - Sequence 164192 from Patent EP1572962.
JD233092 - Sequence 214116 from Patent EP1572962.
JD107250 - Sequence 88274 from Patent EP1572962.
JD274273 - Sequence 255297 from Patent EP1572962.
JD282685 - Sequence 263709 from Patent EP1572962.
AK299024 - Homo sapiens cDNA FLJ51697 complete cds.
KJ894081 - Synthetic construct Homo sapiens clone ccsbBroadEn_03475 RNF43 gene, encodes complete protein.
AB527734 - Synthetic construct DNA, clone: pF1KB6284, Homo sapiens RNF43 gene for ring finger protein 43, without stop codon, in Flexi system.
AK309297 - Homo sapiens cDNA, FLJ99338.
AK298789 - Homo sapiens cDNA FLJ60327 complete cds.
JD296154 - Sequence 277178 from Patent EP1572962.
JD359116 - Sequence 340140 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q68DV7 (Reactome details) participates in the following event(s):

R-HSA-4641205 RSPO:LGR binds ZNRF3
R-HSA-4641249 ZNRF3,RNF43 binds the FZD:LRP5/6 receptor complex
R-HSA-4641253 ZNRF3 ubiquitinates FZD to promote its downregulation
R-HSA-4641246 ZNRF3 autoubiquitinates to promote its internalization
R-HSA-4641263 Regulation of FZD by ubiquitination
R-HSA-5340588 RNF mutants show enhanced WNT signaling and proliferation
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-4791275 Signaling by WNT in cancer
R-HSA-195721 Signaling by WNT
R-HSA-5663202 Diseases of signal transduction
R-HSA-162582 Signal Transduction
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: A8K4R2, B7Z443, B7Z5D5, B7Z5J5, ENST00000407977.1, ENST00000407977.2, ENST00000407977.3, ENST00000407977.4, ENST00000407977.5, ENST00000407977.6, NM_017763, Q65ZA4, Q68DV7, Q6AI04, Q9NXD0, RNF43_HUMAN, uc002iwh.1, uc002iwh.2, uc002iwh.3, uc002iwh.4, uc002iwh.5, uc002iwh.6, uc002iwh.7
UCSC ID: ENST00000407977.7
RefSeq Accession: NM_017763
Protein: Q68DV7 (aka RNF43_HUMAN)
CCDS: CCDS11607.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.