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

    Gene ID: 54894, updated on 8-Jul-2021

    Summary

    Official Symbol
    RNF43provided by HGNC
    Official Full Name
    ring finger protein 43provided by HGNC
    Primary source
    HGNC:HGNC:18505
    See related
    Ensembl:ENSG00000108375 Ensembl:ENSG00000285897 MIM:612482
    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
    NEW
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    Genomic context

    See RNF43 in Genome Data Viewer
    Location:
    17q22
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (58352500..58418894, complement)
    105.20201022 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 Sharpr-MPRA regulatory regions 8228 and 8679 Neighboring gene SPT4 homolog, DSIF elongation factor subunit Neighboring gene heat shock transcription factor 5 Neighboring gene SET pseudogene 3 Neighboring gene myotubularin related protein 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
    GeneReviews: Not available
    Genome-wide association study of pancreatic cancer in Japanese population.
    GeneReviews: Not available
    Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.
    GeneReviews: Not available
    Sessile serrated polyposis cancer syndrome
    MedGen: C4310714 OMIM: 617108 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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
     
    is_active_in integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear envelope IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase RNF43
    Names
    RING-type E3 ubiquitin transferase RNF43
    NP_001292473.1
    NP_001292474.1
    NP_060233.3
    XP_011523257.1
    XP_011523258.1
    XP_016880289.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001305544.2NP_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
      Q68DV7
      Related
      ENSP00000462764.1, ENST00000577716.5
      Conserved Domains (4) summary
      cd16798
      Location:270316
      RING-H2_RNF43; RING finger, H2 subclass, found in RING finger protein 43 (RNF43) and similar proteins
      cl26464
      Location:570747
      Atrophin-1; Atrophin-1 family
      cl28033
      Location:312669
      Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
      cl28883
      Location:87186
      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_001305545.1NP_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/Swiss-Prot
      Q68DV7
      Related
      ENSP00000463716.1, ENST00000577625.5
      Conserved Domains (1) summary
      pfam13639
      Location:143185
      zf-RING_2; Ring finger domain
    3. NM_017763.6NP_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
      Q68DV7
      Related
      ENSP00000385328.2, ENST00000407977.7
      Conserved Domains (4) summary
      cd16798
      Location:270316
      RING-H2_RNF43; RING finger, H2 subclass, found in RING finger protein 43 (RNF43) and similar proteins
      cl26464
      Location:570747
      Atrophin-1; Atrophin-1 family
      cl28033
      Location:312669
      Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
      cl28883
      Location:87186
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      58352500..58418894 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524956.3XP_011523258.1  E3 ubiquitin-protein ligase RNF43 isoform X2

      UniProtKB/TrEMBL
      J3KSE3
      Related
      ENSP00000462447.1, ENST00000581868.1
      Conserved Domains (1) summary
      pfam13639
      Location:143185
      zf-RING_2; Ring finger domain
    2. XM_017024800.2XP_016880289.1  E3 ubiquitin-protein ligase RNF43 isoform X1

      UniProtKB/Swiss-Prot
      Q68DV7
      Conserved Domains (2) summary
      pfam13639
      Location:270312
      zf-RING_2; Ring finger domain
      cl10459
      Location:87186
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    3. XM_011524955.3XP_011523257.1  E3 ubiquitin-protein ligase RNF43 isoform X1

      See identical proteins and their annotated locations for XP_011523257.1

      UniProtKB/Swiss-Prot
      Q68DV7
      Related
      ENSP00000497686.1, ENST00000648873.1
      Conserved Domains (2) summary
      pfam13639
      Location:270312
      zf-RING_2; Ring finger domain
      cl10459
      Location:87186
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
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