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RNF43 ring finger protein 43 [ Homo sapiens (human) ]

Gene ID: 54894, updated on 3-Nov-2024

Summary

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Official Symbol
RNF43provided by HGNC
Official Full Name
ring finger protein 43provided by HGNC
Primary source
HGNC:HGNC:18505
See related
Ensembl:ENSG00000108375 MIM:612482; AllianceGenome:HGNC:18505
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
URCC; SSPCS; RNF124
Summary
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]
Expression
Broad expression in duodenum (RPKM 7.1), colon (RPKM 6.1) and 24 other tissues See more
Orthologs
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Genomic context

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See RNF43 in Genome Data Viewer
Location:
17q22
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (58352500..58417534, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (59220375..59286465, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (56429861..56494895, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene TSPOAP1, SUPT4H1 and RNF43 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:56413329-56413870 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12477 Neighboring gene Sharpr-MPRA regulatory regions 8228 and 8679 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12481 Neighboring gene microRNA 4736 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8767 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8768 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:56430343-56430878 Neighboring gene SPT4 homolog, DSIF elongation factor subunit Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12482 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:56471542-56472741 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:56475825-56476680 Neighboring gene heat shock transcription factor 5 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:56523372-56523966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8770 Neighboring gene SET pseudogene 3 Neighboring gene myotubularin related protein 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12483 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8771 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:56595757-56596502

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Ring finger protein 43 as a new target for cancer immunotherapy. Uchida N, et al. Clin Cancer Res, 2004 Dec 15. PMID 15623641
  2. RNF43 frameshift mutations contribute to tumourigenesis in right-sided colon cancer. Lai C, et al. Pathol Res Pract, 2019 Aug. PMID 31122752
  3. RNF43 is mutated less frequently in Lynch Syndrome compared with sporadic microsatellite unstable colorectal cancers. Fennell LJ, et al. Fam Cancer, 2018 Jan. PMID 28573495, Free PMC Article
  4. New Target(s) for RNF43 Regulation: Implications for Therapeutic Strategies. Nag JK, et al. Int J Mol Sci, 2024 Jul 24. PMID 39125653, Free PMC Article
  5. The most common RNF43 mutant G659Vfs*41 is fully functional in inhibiting Wnt signaling and unlikely to play a role in tumorigenesis. Tu J, et al. Sci Rep, 2019 Dec 6. PMID 31811196, Free PMC Article

See all (86) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. New Target(s) for RNF43 Regulation: Implications for Therapeutic Strategies.
    Title: New Target(s) for RNF43 Regulation: Implications for Therapeutic Strategies.
  2. E3 ligases RNF43 and ZNRF3 display differential specificity for endocytosis of Frizzled receptors.
    Title: E3 ligases RNF43 and ZNRF3 display differential specificity for endocytosis of Frizzled receptors.
  3. RNF43 Inactivation Enhances the B-RAF/MEK Signaling and Creates a Combinatory Therapeutic Target in Cancer Cells.
    Title: RNF43 Inactivation Enhances the B-RAF/MEK Signaling and Creates a Combinatory Therapeutic Target in Cancer Cells.
  4. Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family.
    Title: Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family.
  5. Predictive Impact of RNF43 Mutations in Patients With Proficient Mismatch Repair/Microsatellite Stable BRAFV600E-Mutated Metastatic Colorectal Cancer Treated With Target Therapy or Chemotherapy.
    Title: Predictive Impact of RNF43 Mutations in Patients With Proficient Mismatch Repair/Microsatellite Stable BRAFV600E-Mutated Metastatic Colorectal Cancer Treated With Target Therapy or Chemotherapy.
  6. Pan-cancer analysis identifies RNF43 as a prognostic, therapeutic and immunological biomarker.
    Title: Pan-cancer analysis identifies RNF43 as a prognostic, therapeutic and immunological biomarker.
  7. RNF43 is a novel tumor-suppressor and prognostic indicator in clear cell renal cell carcinoma.
    Title: RNF43 is a novel tumor-suppressor and prognostic indicator in clear cell renal cell carcinoma.
  8. RNF43 Suppressed Triple-Negative Breast Cancer Progression by Inhibiting Wnt/beta-Catenin Pathway.
    Title: RNF43 Suppressed Triple-Negative Breast Cancer Progression by Inhibiting Wnt/beta-Catenin Pathway.
  9. RNF43 mutations predict response to anti-BRAF/EGFR combinatory therapies in BRAF(V600E) metastatic colorectal cancer.
    Title: RNF43 mutations predict response to anti-BRAF/EGFR combinatory therapies in BRAF(V600E) metastatic colorectal cancer.
  10. Exome sequencing revealed comparable frequencies of RNF43 and BRAF mutations in Middle Eastern colorectal cancer.
    Title: Exome sequencing revealed comparable frequencies of RNF43 and BRAF mutations in Middle Eastern colorectal cancer.
Submit: New GeneRIF Correction See all GeneRIFs (61)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Sessile serrated polyposis cancer syndrome
MedGen: C4310714 OMIM: 617108 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
EBI GWAS Catalog
Genome-wide association study of pancreatic cancer in Japanese population.
EBI GWAS Catalog
Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20315, FLJ77466, FLJ99338, MGC125630, DKFZp781H0392, DKFZp781H02126

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables frizzled binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables frizzled binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin protein ligase activity TAS
Traceable Author Statement
more info
 PubMed 
enables ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in Wnt receptor catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in Wnt receptor catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in Wnt receptor catabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
involved_in stem cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear envelope IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
E3 ubiquitin-protein ligase RNF43
Names
RING-type E3 ubiquitin transferase RNF43
NP_001292473.1
NP_001292474.1
NP_060233.3
XP_011523258.1
XP_016880289.1
XP_047292286.1
XP_047292287.1
XP_047292288.1
XP_054172547.1
XP_054172548.1
XP_054172549.1
XP_054172550.1
XP_054172551.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042894.1 RefSeqGene

    Range
    5001..70083
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1026

mRNA and Protein(s)

  1. NM_001305544.2 → NP_001292473.1  E3 ubiquitin-protein ligase RNF43 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001292473.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in its 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB081837, AC004687, AK000322, BC109028, CR627423
    Consensus CDS
    CCDS11607.1
    UniProtKB/Swiss-Prot
    A8K4R2, B7Z443, B7Z5D5, B7Z5J5, Q65ZA4, Q68DV7, Q6AI04, Q9NXD0
    UniProtKB/TrEMBL
    A0A3B3ITA1
    Related
    ENSP00000462764.1, ENST00000577716.5
    Conserved Domains (4) summary
    cd16798
    Location:270 → 316
    RING-H2_RNF43; RING finger, H2 subclass, found in RING finger protein 43 (RNF43) and similar proteins
    cl26464
    Location:570 → 747
    Atrophin-1; Atrophin-1 family
    cl28033
    Location:312 → 669
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
    cl28883
    Location:87 → 186
    PA; PA: Protease-associated (PA) domain. The PA domain is an insert domain in a diverse fraction of proteases. The significance of the PA domain to many of the proteins in which it is inserted is undetermined. It may be a protein-protein interaction domain. ...

  2. NM_001305545.1 → NP_001292474.1  E3 ubiquitin-protein ligase RNF43 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform 2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AB081837, AC004687, AK000322, AK299024, BC109028
    Consensus CDS
    CCDS82172.1
    UniProtKB/TrEMBL
    A0A3B3ITA1
    Related
    ENSP00000463716.1, ENST00000577625.5
    Conserved Domains (1) summary
    pfam13639
    Location:143 → 185
    zf-RING_2; Ring finger domain

  3. NM_017763.6 → NP_060233.3  E3 ubiquitin-protein ligase RNF43 isoform 1 precursor

    See identical proteins and their annotated locations for NP_060233.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK000322, AK291027, BC109028, CR627423
    Consensus CDS
    CCDS11607.1
    UniProtKB/Swiss-Prot
    A8K4R2, B7Z443, B7Z5D5, B7Z5J5, Q65ZA4, Q68DV7, Q6AI04, Q9NXD0
    UniProtKB/TrEMBL
    A0A3B3ITA1
    Related
    ENSP00000385328.2, ENST00000407977.7
    Conserved Domains (4) summary
    cd16798
    Location:270 → 316
    RING-H2_RNF43; RING finger, H2 subclass, found in RING finger protein 43 (RNF43) and similar proteins
    cl26464
    Location:570 → 747
    Atrophin-1; Atrophin-1 family
    cl28033
    Location:312 → 669
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
    cl28883
    Location:87 → 186
    PA; PA: Protease-associated (PA) domain. The PA domain is an insert domain in a diverse fraction of proteases. The significance of the PA domain to many of the proteins in which it is inserted is undetermined. It may be a protein-protein interaction domain. ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    58352500..58417534 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047436332.1 → XP_047292288.1  E3 ubiquitin-protein ligase RNF43 isoform X2

    UniProtKB/Swiss-Prot
    A8K4R2, B7Z443, B7Z5D5, B7Z5J5, Q65ZA4, Q68DV7, Q6AI04, Q9NXD0

  2. XM_047436331.1 → XP_047292287.1  E3 ubiquitin-protein ligase RNF43 isoform X2

    UniProtKB/Swiss-Prot
    A8K4R2, B7Z443, B7Z5D5, B7Z5J5, Q65ZA4, Q68DV7, Q6AI04, Q9NXD0
    Related
    ENSP00000463069.1, ENST00000584437.5

  3. XM_017024800.3 → XP_016880289.1  E3 ubiquitin-protein ligase RNF43 isoform X1

    UniProtKB/TrEMBL
    A0A3B3ITA1
    Conserved Domains (2) summary
    pfam13639
    Location:270 → 312
    zf-RING_2; Ring finger domain
    cl10459
    Location:87 → 186
    Peptidases_S8_S53; Peptidase domain in the S8 and S53 families

  4. XM_047436330.1 → XP_047292286.1  E3 ubiquitin-protein ligase RNF43 isoform X1

  5. XM_011524956.4 → XP_011523258.1  E3 ubiquitin-protein ligase RNF43 isoform X3

    UniProtKB/TrEMBL
    A0A3B3ITA1, J3KSE3
    Related
    ENSP00000462447.1, ENST00000581868.1
    Conserved Domains (1) summary
    pfam13639
    Location:143 → 185
    zf-RING_2; Ring finger domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    59220375..59286465 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316574.1 → XP_054172549.1  E3 ubiquitin-protein ligase RNF43 isoform X2

  2. XM_054316576.1 → XP_054172551.1  E3 ubiquitin-protein ligase RNF43 isoform X5

  3. XM_054316572.1 → XP_054172547.1  E3 ubiquitin-protein ligase RNF43 isoform X1

  4. XM_054316575.1 → XP_054172550.1  E3 ubiquitin-protein ligase RNF43 isoform X3

  5. XM_054316573.1 → XP_054172548.1  E3 ubiquitin-protein ligase RNF43 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q68DV7.1 GenPept UniProtKB/Swiss-Prot:Q68DV7

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