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    RNF126 ring finger protein 126 [ Homo sapiens (human) ]

    Gene ID: 55658, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RNF126provided by HGNC
    Official Full Name
    ring finger protein 126provided by HGNC
    Primary source
    HGNC:HGNC:21151
    See related
    Ensembl:ENSG00000070423 MIM:615177; AllianceGenome:HGNC:21151
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 15.1), spleen (RPKM 11.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RNF126 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (647526..663214, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (601753..617249, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (647526..663214, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene RNA polymerase mitochondrial Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9611 Neighboring gene uncharacterized LOC105372234 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13567 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:638495-639220 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9613 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:644145-645085 Neighboring gene fibroblast growth factor 22 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:657815-658727 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:658728-659641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13570 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9614 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9615 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:678746-679248 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9616 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9617 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:680933-681482 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:681483-682031 Neighboring gene follistatin like 3 Neighboring gene serine protease 57 Neighboring gene ribosomal protein S2 pseudogene 52

    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. E3 Ubiquitin ligase RNF126 regulates the progression of tongue cancer. Wang L, et al. Cancer Med, 2016 Aug. PMID 27227488, Free PMC Article
    2. Ring finger protein 126 promotes breast cancer metastasis and serves as a potential target to improve the therapeutic sensitivity of ATR inhibitors. Pan Y, et al. Breast Cancer Res, 2022 Dec 20. PMID 36539893, Free PMC Article
    3. RNF126 contributes to stem cell-like properties and metastasis in hepatocellular carcinoma through ubiquitination and degradation of LKB1. Huang J, et al. Hum Cell, 2022 Nov. PMID 36068398
    4. RNF126 as a Marker of Prognosis and Proliferation of Gastric Cancer. Migita K, et al. Anticancer Res, 2020 Mar. PMID 32132033
    5. High Expression of RING Finger Protein 126 Predicts Unfavorable Prognosis of Epithelial Ovarian Cancer. Wang C, et al. Med Sci Monit, 2020 Apr 7. PMID 32254065, Free PMC Article

    See all (81) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RNF126-Mediated MRE11 Ubiquitination Activates the DNA Damage Response and Confers Resistance of Triple-Negative Breast Cancer to Radiotherapy.
      Title: RNF126-Mediated MRE11 Ubiquitination Activates the DNA Damage Response and Confers Resistance of Triple-Negative Breast Cancer to Radiotherapy.
    2. Ring finger protein 126 promotes breast cancer metastasis and serves as a potential target to improve the therapeutic sensitivity of ATR inhibitors.
      Title: Ring finger protein 126 promotes breast cancer metastasis and serves as a potential target to improve the therapeutic sensitivity of ATR inhibitors.
    3. RNF126 contributes to stem cell-like properties and metastasis in hepatocellular carcinoma through ubiquitination and degradation of LKB1.
      Title: RNF126 contributes to stem cell-like properties and metastasis in hepatocellular carcinoma through ubiquitination and degradation of LKB1.
    4. Overexpression of RNF126 is associated with poor prognosis and contributes to the progression of lung adenocarcinoma.
      Title: Overexpression of RNF126 is associated with poor prognosis and contributes to the progression of lung adenocarcinoma.
    5. CHFR-mediated degradation of RNF126 confers sensitivity to PARP inhibitors in triple-negative breast cancer cells.
      Title: CHFR-mediated degradation of RNF126 confers sensitivity to PARP inhibitors in triple-negative breast cancer cells.
    6. E3 ubiquitin ligase RNF126 affects bladder cancer progression through regulation of PTEN stability.
      Title: E3 ubiquitin ligase RNF126 affects bladder cancer progression through regulation of PTEN stability.
    7. Roles of RNF126 and BCA2 E3 ubiquitin ligases in DNA damage repair signaling and targeted cancer therapy.
      Title: Roles of RNF126 and BCA2 E3 ubiquitin ligases in DNA damage repair signaling and targeted cancer therapy.
    8. High Expression of RING Finger Protein 126 Predicts Unfavorable Prognosis of Epithelial Ovarian Cancer.
      Title: High Expression of RING Finger Protein 126 Predicts Unfavorable Prognosis of Epithelial Ovarian Cancer.
    9. RNF126-Mediated Reubiquitination Is Required for Proteasomal Degradation of p97-Extracted Membrane Proteins.
      Title: RNF126-Mediated Reubiquitination Is Required for Proteasomal Degradation of p97-Extracted Membrane Proteins.
    10. We conclude that the RNF126/BAG6 complex contributes to G0S2 degradation and that interventions to prevent G0S2 degradation may offer a therapeutic strategy for managing ischemic diseases.
      Title: A molecular triage process mediated by RING finger protein 126 and BCL2-associated athanogene 6 regulates degradation of G(0)/G(1) switch gene 2.
    Submit: New GeneRIF Correction See all GeneRIFs (23)

    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 is identified to have a physical interaction with ring finger protein 126 (RNF126) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC1022, FLJ20552, MGC14317

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables epidermal growth factor receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 
    Process Evidence Code Pubs
    involved_in cytoplasm protein quality control by the ubiquitin-proteasome system IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of epidermal growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein K27-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein K29-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein K48-linked ubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein K63-linked ubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein monoubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in retrograde transport, endosome to Golgi IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    E3 ubiquitin-protein ligase RNF126
    NP_001352947.1
    NP_919442.1
    XP_047295025.1
    XP_054177384.1

    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.

    Genomic

    1. NG_016713.1 RefSeqGene

      Range
      5014..20702
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001366018.1 → NP_001352947.1  E3 ubiquitin-protein ligase RNF126 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC004156, AC004449
      UniProtKB/TrEMBL
      K7EIY6
      Related
      ENSP00000464945.2, ENST00000589762.5
      Conserved Domains (2) summary
      cd16801
      Location:201 → 244
      RING-H2_RNF126; RING finger, H2 subclass, found in RING finger protein 126 (RNF126) and similar proteins
      pfam14369
      Location:10 → 40
      zinc_ribbon_9; zinc-ribbon

    2. NM_194460.3 → NP_919442.1  E3 ubiquitin-protein ligase RNF126 isoform 1

      See identical proteins and their annotated locations for NP_919442.1

      Status: REVIEWED

      Source sequence(s)
      AC004156, AC004449, AK289616, BG773910
      Consensus CDS
      CCDS12039.1
      UniProtKB/Swiss-Prot
      Q9BV68, Q9NWX1
      UniProtKB/TrEMBL
      A8K0Q1
      Related
      ENSP00000292363.3, ENST00000292363.10
      Conserved Domains (2) summary
      cd16801
      Location:228 → 271
      RING-H2_RNF126; RING finger, H2 subclass, found in RING finger protein 126 (RNF126) and similar proteins
      pfam14369
      Location:10 → 40
      zinc_ribbon_9; zinc-ribbon

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      647526..663214 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439069.1 → XP_047295025.1  E3 ubiquitin-protein ligase RNF126 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      601753..617249 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321409.1 → XP_054177384.1  E3 ubiquitin-protein ligase RNF126 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_017876.3: Suppressed sequence

      Description
      NM_017876.3: This RefSeq was permanently suppressed because it has a non-consensus splice site that does not have enough supporting evidence.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BV68.2 GenPept UniProtKB/Swiss-Prot:Q9BV68

    Gene LinkOut

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

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