ENSG00000108375


Homo sapiens

Features
Gene ID: ENSG00000108375
  
Biological name :RNF43
  
Synonyms : Q68DV7 / ring finger protein 43 / RNF43
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: q22
Gene start: 58352500
Gene end: 58417595
  
Corresponding Affymetrix probe sets: 218704_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000463716
Ensembl peptide - ENSP00000462764
Ensembl peptide - ENSP00000463069
Ensembl peptide - ENSP00000385328
Ensembl peptide - ENSP00000462447
Ensembl peptide - ENSP00000462502
NCBI entrez gene - 54894     See in Manteia.
OMIM - 612482
RefSeq - XM_017024800
RefSeq - NM_001305544
RefSeq - NM_001305545
RefSeq - NM_017763
RefSeq - XM_011524955
RefSeq - XM_011524956
RefSeq Peptide - NP_060233
RefSeq Peptide - NP_001292473
RefSeq Peptide - NP_001292474
swissprot - Q68DV7
swissprot - J3KSE3
Ensembl - ENSG00000108375
  
Related genetic diseases (OMIM): 617108 - Sessile serrated polyposis cancer syndrome, 617108
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 RNF43ENSGALG00000001028Gallus gallus
 Rnf43ENSMUSG00000034177Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ZNRF3 / Q9ULT6 / zinc and ring finger 3ENSG0000018357930
Q9Y6U7 / RNF215 / ring finger protein 215ENSG0000009999911
Q9H6Y7 / RNF167 / ring finger protein 167ENSG0000010852311
RNF13 / O43567 / ring finger protein 13ENSG0000008299610
Q8TEB7 / RNF128 / ring finger protein 128, E3 ubiquitin protein ligaseENSG0000013313510
Q9ULK6 / RNF150 / ring finger protein 150ENSG000001701539
ZNRF4 / Q8WWF5 / zinc and ring finger 4ENSG000001054289
Q8NC42 / RNF149 / ring finger protein 149ENSG000001631629
Q86XS8 / RNF130 / ring finger protein 130ENSG000001132699
Q8WVZ7 / RNF133 / ring finger protein 133ENSG000001880508
Q8N7C7 / RNF148 / ring finger protein 148ENSG000002356316


Protein motifs (from Interpro)
Interpro ID Name
 IPR001841  Zinc finger, RING-type
 IPR013083  Zinc finger, RING/FYVE/PHD-type


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006511 ubiquitin-dependent protein catabolic process IDA
 biological_processGO:0016055 Wnt signaling pathway IEA
 biological_processGO:0016567 protein ubiquitination IEA
 biological_processGO:0030178 negative regulation of Wnt signaling pathway IMP
 biological_processGO:0038018 Wnt receptor catabolic process TAS
 biological_processGO:0072089 stem cell proliferation ISS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005635 nuclear envelope IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004842 ubiquitin-protein transferase activity IDA
 molecular_functionGO:0005109 frizzled binding IPI
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0061630 ubiquitin protein ligase activity TAS


Pathways (from Reactome)
Pathway description
Regulation of FZD by ubiquitination
RNF mutants show enhanced WNT signaling and proliferation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000101282 RSPO4 / Q2I0M5 / R-spondin 4  / complex / reaction
 ENSG00000139292 LGR5 / O75473 / leucine rich repeat containing G protein-coupled receptor 5  / complex / reaction
 ENSG00000133067 LGR6 / Q9HBX8 / leucine rich repeat containing G protein-coupled receptor 6  / reaction / complex
 ENSG00000147655 RSPO2 / Q6UXX9 / R-spondin 2  / complex / reaction
 ENSG00000146374 RSPO3 / Q9BXY4 / R-spondin 3  / complex / reaction
 ENSG00000169218 RSPO1 / Q2MKA7 / R-spondin 1  / reaction / complex
 ENSG00000205213 LGR4 / Q9BXB1 / leucine rich repeat containing G protein-coupled receptor 4  / reaction / complex
 ENSG00000174804 FZD4 / Q9ULV1 / frizzled class receptor 4  / reaction / complex
 ENSG00000070018 LRP6 / O75581 / LDL receptor related protein 6  / complex / reaction
 ENSG00000154342 WNT3A / P56704 / Wnt family member 3A  / complex / reaction






 

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