• Gene id: 54894

Gene Summary

• Gene Symbol: RNF43   Gene   UCSC   Ensembl
• Aliases: RNF124, SSPCS, URCC
• Gene name: ring finger protein 43
• Alternate names: E3 ubiquitin-protein ligase RNF43, RING-type E3 ubiquitin transferase RNF43,
• Gene location: 17q22 (58418893: 58352499)     Exons: 11     NC_000017.11
• Gene summary(Entrez): 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 signalin
• OMIM: 612482

Protein Summary

• Protein general information: Q68DV7  
  • Name: E3 ubiquitin protein ligase RNF43 (EC 2.3.2.27) (RING finger protein 43) (RING type E3 ubiquitin transferase RNF43)
  • Length: 783  
  • Mass: 85722
  • Tissue specificity: Expressed in fetal kidney, fetal lung, in colon cancer tissues, hepatocellular carcinomas and lung adenocarcinomas. Overexpressed in colorectal cancer cell lines. {ECO
• Sequence:

  MSGGHQLQLAALWPWLLMATLQAGFGRTGLVLAAAVESERSAEQKAIIRVIPLKMDPTGKLNLTLEGVFAGVAEI
  TPAEGKLMQSHPLYLCNASDDDNLEPGFISIVKLESPRRAPRPCLSLASKARMAGERGASAVLFDITEDRAAAEQ
  LQQPLGLTWPVVLIWGNDAEKLMEFVYKNQKAHVRIELKEPPAWPDYDVWILMTVVGTIFVIILASVLRIRCRPR
  HSRPDPLQQRTAWAISQLATRRYQASCRQARGEWPDSGSSCSSAPVCAICLEEFSEGQELRVISCLHEFHRNCVD
  PWLHQHRTCPLCMFNITEGDSFSQSLGPSRSYQEPGRRLHLIRQHPGHAHYHLPAAYLLGPSRSAVARPPRPGPF
  LPSQEPGMGPRHHRFPRAAHPRAPGEQQRLAGAQHPYAQGWGLSHLQSTSQHPAACPVPLRRARPPDSSGSGESY
  CTERSGYLADGPASDSSSGPCHGSSSDSVVNCTDISLQGVHGSSSTFCSSLSSDFDPLVYCSPKGDPQRVDMQPS
  VTSRPRSLDSVVPTGETQVSSHVHYHRHRHHHYKKRFQWHGRKPGPETGVPQSRPPIPRTQPQPEPPSPDQQVTR
  SNSAAPSGRLSNPQCPRALPEPAPGPVDASSICPSTSSLFNLQKSSLSARHPQRKRRGGPSEPTPGSRPQDATVH
  PACQIFPHYTPSVAYPWSPEAHPLICGPPGLDKRLLPETPGPCYSNSQPVWLCLTPRQPLEPHPPGEGPSEWSSD
  TAEGRPCPYPHCQVLSAQPGSEEELEELCEQAV

• Structural information:
  • Interpro: IPR001841  IPR013083  IPR040700  
  • Prosite: PS50089
  • PDB: 4KNG
  • PDBsum: 4KNG
  • STRING: ENSP00000463069
• Other Databases: GeneCards:  RNF43  Malacards:  RNF43

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061630	ubiquitin protein ligase activity	TAS	molecular function
GO:0038018	Wnt receptor catabolic process	TAS	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0038018	Wnt receptor catabolic process	IBA	biological process
GO:0030178	negative regulation of Wnt signaling pathway	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0005109	frizzled binding	IBA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0038018	Wnt receptor catabolic process	IDA	biological process
GO:0016567	protein ubiquitination	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0072089	stem cell proliferation	ISS	biological process
GO:0030178	negative regulation of Wnt signaling pathway	IMP	biological process
GO:0030178	negative regulation of Wnt signaling pathway	IMP	biological process
GO:0005109	frizzled binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04310	Wnt signaling pathway

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)