Aliases for RNF183 Gene

Aliases for RNF183 Gene

  • Ring Finger Protein 183 2 3 5
  • E3 Ubiquitin-Protein Ligase RNF183 3 4
  • Probable E3 Ubiquitin-Protein Ligase RNF183 3
  • EC 2.3.2.27 4
  • MGC4734 2
  • RNF183 5

External Ids for RNF183 Gene

Previous GeneCards Identifiers for RNF183 Gene

  • GC09M113139
  • GC09M115099
  • GC09M116059
  • GC09M085666

Summaries for RNF183 Gene

GeneCards Summary for RNF183 Gene

RNF183 (Ring Finger Protein 183) is a Protein Coding gene. An important paralog of this gene is RNF223.

UniProtKB/Swiss-Prot Summary for RNF183 Gene

  • Acts as a E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins (PubMed:29507230). Triggers apoptosis in response to prolonged ER stress by mediating the polyubiquitination and subsequent proteasomal degradation of BCL2L1 (PubMed:29507230). May collaborate with FATE1 to restrain BIK protein levels thus regulating apoptotic signaling (PubMed:26567849).

Additional gene information for RNF183 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RNF183 Gene

Genomics for RNF183 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RNF183 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RNF183 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RNF183

Top Transcription factor binding sites by QIAGEN in the RNF183 gene promoter:
  • FOXJ2
  • FOXJ2 (long isoform)
  • GR
  • HNF-1
  • HNF-1A
  • p300
  • RP58

Genomic Locations for RNF183 Gene

Genomic Locations for RNF183 Gene
chr9:113,297,093-113,303,877
(GRCh38/hg38)
Size:
6,785 bases
Orientation:
Minus strand
chr9:116,059,373-116,065,656
(GRCh37/hg19)
Size:
6,284 bases
Orientation:
Minus strand

Genomic View for RNF183 Gene

Genes around RNF183 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF183 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF183 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF183 Gene

Proteins for RNF183 Gene

  • Protein details for RNF183 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96D59-RN183_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RNF183
    Protein Accession:
    Q96D59

    Protein attributes for RNF183 Gene

    Size:
    192 amino acids
    Molecular mass:
    21617 Da
    Quaternary structure:
    • Interacts with FATE1 (PubMed:26567849). Interacts with SEC16A (By similarity). Interacts with BCL2L1 (PubMed:29507230).

neXtProt entry for RNF183 Gene

Post-translational modifications for RNF183 Gene

No data available for DME Specific Peptides for RNF183 Gene

Domains & Families for RNF183 Gene

Gene Families for RNF183 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for RNF183 Gene

InterPro:
Blocks:
  • Zn-finger, RING
ProtoNet:

Suggested Antigen Peptide Sequences for RNF183 Gene

GenScript: Design optimal peptide antigens:
  • RING finger protein 183 (RN183_HUMAN)
genes like me logo Genes that share domains with RNF183: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RNF183 Gene

Function for RNF183 Gene

Molecular function for RNF183 Gene

UniProtKB/Swiss-Prot Function:
Acts as a E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins (PubMed:29507230). Triggers apoptosis in response to prolonged ER stress by mediating the polyubiquitination and subsequent proteasomal degradation of BCL2L1 (PubMed:29507230). May collaborate with FATE1 to restrain BIK protein levels thus regulating apoptotic signaling (PubMed:26567849).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence={ECO:0000269|PubMed:29507230};.
UniProtKB/Swiss-Prot Induction:
Up-regulated by ER stress in an ERN1-dependent manner.

Enzyme Numbers (IUBMB) for RNF183 Gene

Phenotypes From GWAS Catalog for RNF183 Gene

Gene Ontology (GO) - Molecular Function for RNF183 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity IMP 29507230
genes like me logo Genes that share ontologies with RNF183: view
genes like me logo Genes that share phenotypes with RNF183: view

Animal Models for RNF183 Gene

MGI Knock Outs for RNF183:
  • Rnf183 Rnf183<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for RNF183 Gene

miRTarBase miRNAs that target RNF183

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF183

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RNF183 Gene

Localization for RNF183 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF183 Gene

Endoplasmic reticulum membrane. Single-pass type IV membrane protein. Endoplasmic reticulum. Golgi apparatus, cis-Golgi network membrane. Lysosome membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RNF183 gene
Compartment Confidence
endoplasmic reticulum 5
lysosome 4
golgi apparatus 4
plasma membrane 3
nucleus 3
cytoskeleton 1
mitochondrion 1
endosome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for RNF183 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane ISS --
GO:0005783 endoplasmic reticulum IEA,IDA 26567849
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with RNF183: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RNF183 Gene

Pathways & Interactions for RNF183 Gene

PathCards logo

SuperPathways for RNF183 Gene

No Data Available

UniProtKB/Swiss-Prot Q96D59-RN183_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RNF183 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IMP 29507230
GO:0006915 apoptotic process IEA --
GO:0016567 protein ubiquitination IEA --
GO:0034976 response to endoplasmic reticulum stress IDA 29507230
GO:0051865 protein autoubiquitination IMP 29507230
genes like me logo Genes that share ontologies with RNF183: view

No data available for Pathways by source and SIGNOR curated interactions for RNF183 Gene

Drugs & Compounds for RNF183 Gene

No Compound Related Data Available

Transcripts for RNF183 Gene

mRNA/cDNA for RNF183 Gene

5 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF183

Alternative Splicing Database (ASD) splice patterns (SP) for RNF183 Gene

No ASD Table

Relevant External Links for RNF183 Gene

GeneLoc Exon Structure for
RNF183

Expression for RNF183 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RNF183 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RNF183 Gene

This gene is overexpressed in Kidney - Cortex (x8.6), Minor Salivary Gland (x7.6), Testis (x5.8), and Esophagus - Mucosa (x5.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RNF183 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RNF183

SOURCE GeneReport for Unigene cluster for RNF183 Gene:

Hs.729641

mRNA Expression by UniProt/SwissProt for RNF183 Gene:

Q96D59-RN183_HUMAN
Tissue specificity: Kidney and testis.

Evidence on tissue expression from TISSUES for RNF183 Gene

  • Lung(4)
genes like me logo Genes that share expression patterns with RNF183: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RNF183 Gene

Orthologs for RNF183 Gene

This gene was present in the common ancestor of mammals.

Orthologs for RNF183 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RNF183 30 31
  • 98.96 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RNF183 30
  • 89.12 (n)
Mouse
(Mus musculus)
Mammalia Rnf183 30 17 31
  • 85.79 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RNF183 30 31
  • 85.64 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rnf183 30
  • 84.39 (n)
Oppossum
(Monodelphis domestica)
Mammalia RNF183 31
  • 75 (a)
OneToOne
Species where no ortholog for RNF183 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for RNF183 Gene

ENSEMBL:
Gene Tree for RNF183 (if available)
TreeFam:
Gene Tree for RNF183 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RNF183: view image

Paralogs for RNF183 Gene

Paralogs for RNF183 Gene

genes like me logo Genes that share paralogs with RNF183: view

Variants for RNF183 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RNF183 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs3750533 - p.Ala82Thr
rs3750534 - p.Gln114Arg

Additional dbSNP identifiers (rs#s) for RNF183 Gene

Structural Variations from Database of Genomic Variants (DGV) for RNF183 Gene

Variant ID Type Subtype PubMed ID
esv3621540 CNV gain 21293372

Variation tolerance for RNF183 Gene

Residual Variation Intolerance Score: 90.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.26; 97.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RNF183 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF183

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF183 Gene

Disorders for RNF183 Gene

No disorders were found for RNF183 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RNF183 Gene

Publications for RNF183 Gene

  1. Transmembrane E3 ligase RNF183 mediates ER stress-induced apoptosis by degrading Bcl-xL. (PMID: 29507230) Wu Y … Hu J (Proceedings of the National Academy of Sciences of the United States of America 2018) 2 3 4
  2. Sec16A, a key protein in COPII vesicle formation, regulates the stability and localization of the novel ubiquitin ligase RNF183. (PMID: 29300766) Wu Y … Kaneko M (PloS one 2018) 2 3 4
  3. Comprehensive functional characterization of cancer-testis antigens defines obligate participation in multiple hallmarks of cancer. (PMID: 26567849) Maxfield KE … Whitehurst AW (Nature communications 2015) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for RNF183 Gene

Sources for RNF183 Gene