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

    Gene ID: 138065, updated on 2-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
    mouse all
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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 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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    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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    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)

    Genotypes

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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