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RNF183 ring finger protein 183 [ Homo sapiens (human) ]

Gene ID: 138065, updated on 27-Nov-2024

Summary

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Official Symbol
RNF183provided by HGNC
Official Full Name
ring finger protein 183provided by HGNC
Primary source
HGNC:HGNC:28721
See related
Ensembl:ENSG00000165188 AllianceGenome:HGNC:28721
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Enables ubiquitin protein ligase activity. Involved in positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway; protein ubiquitination; and response to endoplasmic reticulum stress. Located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in gall bladder (RPKM 1.5), kidney (RPKM 1.3) and 7 other tissues See more
Orthologs
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Genomic context

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See RNF183 in Genome Data Viewer
Location:
9q32
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (113297093..113303376, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (125495894..125502177, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (116059373..116065656, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116036963-116037818 Neighboring gene cell division cycle 26 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_106320 Neighboring gene pre-mRNA splicing tri-snRNP complex factor PRPF4 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_106329 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_106330 Neighboring gene WD repeat domain 31 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20201 Neighboring gene B-box and SPRY domain containing Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116131698-116132198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116132199-116132699

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
  • 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. Synthetic lethal short hairpin RNA screening reveals that ring finger protein 183 confers resistance to trametinib in colorectal cancer cells. Geng R, et al. Chin J Cancer, 2017 Jul 31. PMID 28756770, Free PMC Article
  2. RNF183 promotes proliferation and metastasis of colorectal cancer cells via activation of NF-κB-IL-8 axis. Geng R, et al. Cell Death Dis, 2017 Aug 10. PMID 28796265, Free PMC Article
  3. Cathepsin D as a potential therapeutic target to enhance anticancer drug-induced apoptosis via RNF183-mediated destabilization of Bcl-xL in cancer cells. Seo SU, et al. Cell Death Dis, 2022 Feb 4. PMID 35121737, Free PMC Article
  4. Inflammatory bowel disease-associated ubiquitin ligase RNF183 promotes lysosomal degradation of DR5 and TRAIL-induced caspase activation. Wu Y, et al. Sci Rep, 2019 Dec 30. PMID 31889078, Free PMC Article
  5. The YTHDC1/GLUT3/RNF183 axis forms a positive feedback loop that modulates glucose metabolism and bladder cancer progression. Yan B, et al. Exp Mol Med, 2023 Jun. PMID 37258572, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The YTHDC1/GLUT3/RNF183 axis forms a positive feedback loop that modulates glucose metabolism and bladder cancer progression.
    Title: The YTHDC1/GLUT3/RNF183 axis forms a positive feedback loop that modulates glucose metabolism and bladder cancer progression.
  2. Cathepsin D as a potential therapeutic target to enhance anticancer drug-induced apoptosis via RNF183-mediated destabilization of Bcl-xL in cancer cells.
    Title: Cathepsin D as a potential therapeutic target to enhance anticancer drug-induced apoptosis via RNF183-mediated destabilization of Bcl-xL in cancer cells.
  3. The Role of Tissue-Specific Ubiquitin Ligases, RNF183, RNF186, RNF182 and RNF152, in Disease and Biological Function.
    Title: The Role of Tissue-Specific Ubiquitin Ligases, RNF183, RNF186, RNF182 and RNF152, in Disease and Biological Function.
  4. Na, K-ATPase alpha1 and beta1 subunits are degraded in lysosomes by RNF183-mediated ubiquitination of beta1 subunit.
    Title: Hypertonicity-responsive ubiquitin ligase RNF183 promotes Na, K-ATPase lysosomal degradation through ubiquitination of its β1 subunit.
  5. RNF183 plays an important role in executing programmed cell death upon prolonged endoplasmic reticulum stress, likely by inducing apoptosis through Bcl-xL.RNF183 ubiquitinates Bcl-xL.
    Title: Transmembrane E3 ligase RNF183 mediates ER stress-induced apoptosis by degrading Bcl-xL.
  6. RNF183 promotes proliferation and metastasis of colorectal cancer cells via activation of NF-kappaB-IL-8 axis
    Title: RNF183 promotes proliferation and metastasis of colorectal cancer cells via activation of NF-κB-IL-8 axis.
  7. The RNF183-IL-8 axis is responsible for the resistance of colorectal cancer (CRC)cells to the MEK1/2 inhibitor trametinib and may serve as a candidate target for combined therapy for CRC.
    Title: Synthetic lethal short hairpin RNA screening reveals that ring finger protein 183 confers resistance to trametinib in colorectal cancer cells.
  8. Sec16A also stabilized the interacting ubiquitin ligase RNF152, which localizes to the lysosome and has structural similarity with RNF183
    Title: Sec16A, a key protein in COPII vesicle formation, regulates the stability and localization of the novel ubiquitin ligase RNF183.
  9. RNF183, which is negatively regulated by miR-7, is a novel regulator promoting intestinal inflammation by increasing the ubiquitination and degradation of IkappaBalpha, thereby inducing NF-kappaB activation. The interaction between RNF183-mediated ubiquitination and miRNA may be an important novel epigenetic mechanism in the pathogenesis of inflammatory bowel disease.
    Title: E3 Ubiquitin ligase RNF183 Is a Novel Regulator in Inflammatory Bowel Disease.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • MGC4734, FLJ31197

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 IDA
Inferred from Direct Assay
more info
 PubMed 
enables ubiquitin protein ligase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein autoubiquitination IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein polyubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein polyubiquitination IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to endoplasmic reticulum stress IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to endoplasmic reticulum stress IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cis-Golgi network membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in lysosomal membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
E3 ubiquitin-protein ligase RNF183
Names
probable E3 ubiquitin-protein ligase RNF183
NP_001358163.1
NP_001358164.1
NP_001358165.1
NP_001358166.1
NP_001374497.1
NP_001374498.1
NP_659488.2
XP_024303178.1
XP_024303179.1
XP_024303180.1
XP_047278717.1
XP_047278718.1
XP_047278719.1
XP_047278720.1
XP_047278721.1
XP_054217938.1
XP_054217939.1
XP_054217940.1
XP_054217941.1
XP_054217942.1
XP_054217943.1
XP_054217944.1
XP_054217945.1

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.

mRNA and Protein(s)

  1. NM_001371234.1 → NP_001358163.1  E3 ubiquitin-protein ligase RNF183

    Status: VALIDATED

    Source sequence(s)
    AL449305
    Consensus CDS
    CCDS43866.1
    UniProtKB/Swiss-Prot
    Q96D59
    Related
    ENSP00000420740.1, ENST00000416588.2
    Conserved Domains (1) summary
    cd16556
    Location:12 → 63
    RING-HC_RNF183_like; RING finger, HC subclass, found in RING finger protein RNF183, RNF223 and similar proteins

  2. NM_001371235.1 → NP_001358164.1  E3 ubiquitin-protein ligase RNF183

    Status: VALIDATED

    Source sequence(s)
    AL449305
    Consensus CDS
    CCDS43866.1
    UniProtKB/Swiss-Prot
    Q96D59
    Conserved Domains (1) summary
    cd16556
    Location:12 → 63
    RING-HC_RNF183_like; RING finger, HC subclass, found in RING finger protein RNF183, RNF223 and similar proteins

  3. NM_001371236.1 → NP_001358165.1  E3 ubiquitin-protein ligase RNF183

    Status: VALIDATED

    Source sequence(s)
    AL449305
    Consensus CDS
    CCDS43866.1
    UniProtKB/Swiss-Prot
    Q96D59
    Related
    ENSP00000417943.1, ENST00000297894.5
    Conserved Domains (1) summary
    cd16556
    Location:12 → 63
    RING-HC_RNF183_like; RING finger, HC subclass, found in RING finger protein RNF183, RNF223 and similar proteins

  4. NM_001371237.1 → NP_001358166.1  E3 ubiquitin-protein ligase RNF183

    Status: VALIDATED

    Source sequence(s)
    AL449305
    Consensus CDS
    CCDS43866.1
    UniProtKB/Swiss-Prot
    Q96D59
    Related
    ENSP00000508293.1, ENST00000489339.2
    Conserved Domains (1) summary
    cd16556
    Location:12 → 63
    RING-HC_RNF183_like; RING finger, HC subclass, found in RING finger protein RNF183, RNF223 and similar proteins

  5. NM_001387568.1 → NP_001374497.1  E3 ubiquitin-protein ligase RNF183

    Status: VALIDATED

    Source sequence(s)
    AL449305
    Consensus CDS
    CCDS43866.1
    UniProtKB/Swiss-Prot
    Q96D59
    Conserved Domains (1) summary
    cd16556
    Location:12 → 63
    RING-HC_RNF183_like; RING finger, HC subclass, found in RING finger protein RNF183, RNF223 and similar proteins

  6. NM_001387569.1 → NP_001374498.1  E3 ubiquitin-protein ligase RNF183

    Status: VALIDATED

    Source sequence(s)
    AL449305
    Consensus CDS
    CCDS43866.1
    UniProtKB/Swiss-Prot
    Q96D59
    Conserved Domains (1) summary
    cd16556
    Location:12 → 63
    RING-HC_RNF183_like; RING finger, HC subclass, found in RING finger protein RNF183, RNF223 and similar proteins

  7. NM_145051.5 → NP_659488.2  E3 ubiquitin-protein ligase RNF183

    See identical proteins and their annotated locations for NP_659488.2

    Status: VALIDATED

    Source sequence(s)
    AL449305
    Consensus CDS
    CCDS43866.1
    UniProtKB/Swiss-Prot
    Q96D59
    Conserved Domains (1) summary
    cd16556
    Location:12 → 63
    RING-HC_RNF183_like; RING finger, HC subclass, found in RING finger protein RNF183, RNF223 and similar proteins

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    113297093..113303376 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047422765.1 → XP_047278721.1  E3 ubiquitin-protein ligase RNF183 isoform X1

    UniProtKB/Swiss-Prot
    Q96D59
    Related
    ENSP00000419454.1, ENST00000478815.1

  2. XM_024447412.2 → XP_024303180.1  E3 ubiquitin-protein ligase RNF183 isoform X1

    UniProtKB/Swiss-Prot
    Q96D59
    Conserved Domains (1) summary
    cd16556
    Location:12 → 63
    RING-HC_RNF183_like; RING finger, HC subclass, found in RING finger protein RNF183, RNF223 and similar proteins

  3. XM_024447411.2 → XP_024303179.1  E3 ubiquitin-protein ligase RNF183 isoform X1

    UniProtKB/Swiss-Prot
    Q96D59
    Conserved Domains (1) summary
    cd16556
    Location:12 → 63
    RING-HC_RNF183_like; RING finger, HC subclass, found in RING finger protein RNF183, RNF223 and similar proteins

  4. XM_047422763.1 → XP_047278719.1  E3 ubiquitin-protein ligase RNF183 isoform X1

    UniProtKB/Swiss-Prot
    Q96D59

  5. XM_047422764.1 → XP_047278720.1  E3 ubiquitin-protein ligase RNF183 isoform X1

    UniProtKB/Swiss-Prot
    Q96D59

  6. XM_047422762.1 → XP_047278718.1  E3 ubiquitin-protein ligase RNF183 isoform X1

    UniProtKB/Swiss-Prot
    Q96D59

  7. XM_047422761.1 → XP_047278717.1  E3 ubiquitin-protein ligase RNF183 isoform X1

    UniProtKB/Swiss-Prot
    Q96D59

  8. XM_024447410.1 → XP_024303178.1  E3 ubiquitin-protein ligase RNF183 isoform X1

    UniProtKB/Swiss-Prot
    Q96D59
    Conserved Domains (1) summary
    cd16556
    Location:12 → 63
    RING-HC_RNF183_like; RING finger, HC subclass, found in RING finger protein RNF183, RNF223 and similar proteins

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    125495894..125502177 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361969.1 → XP_054217944.1  E3 ubiquitin-protein ligase RNF183 isoform X1

    UniProtKB/Swiss-Prot
    Q96D59

  2. XM_054361968.1 → XP_054217943.1  E3 ubiquitin-protein ligase RNF183 isoform X1

    UniProtKB/Swiss-Prot
    Q96D59

  3. XM_054361970.1 → XP_054217945.1  E3 ubiquitin-protein ligase RNF183 isoform X1

    UniProtKB/Swiss-Prot
    Q96D59

  4. XM_054361965.1 → XP_054217940.1  E3 ubiquitin-protein ligase RNF183 isoform X1

    UniProtKB/Swiss-Prot
    Q96D59

  5. XM_054361966.1 → XP_054217941.1  E3 ubiquitin-protein ligase RNF183 isoform X1

    UniProtKB/Swiss-Prot
    Q96D59

  6. XM_054361964.1 → XP_054217939.1  E3 ubiquitin-protein ligase RNF183 isoform X1

    UniProtKB/Swiss-Prot
    Q96D59

  7. XM_054361963.1 → XP_054217938.1  E3 ubiquitin-protein ligase RNF183 isoform X1

    UniProtKB/Swiss-Prot
    Q96D59

  8. XM_054361967.1 → XP_054217942.1  E3 ubiquitin-protein ligase RNF183 isoform X1

    UniProtKB/Swiss-Prot
    Q96D59
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96D59.2 GenPept UniProtKB/Swiss-Prot:Q96D59

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