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    RBX1 ring-box 1 [ Homo sapiens (human) ]

    Gene ID: 9978, updated on 3-Nov-2024

    Summary

    Official Symbol
    RBX1provided by HGNC
    Official Full Name
    ring-box 1provided by HGNC
    Primary source
    HGNC:HGNC:9928
    See related
    Ensembl:ENSG00000100387 MIM:603814; AllianceGenome:HGNC:9928
    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
    Also known as
    ROC1; RNF75; BA554C12.1
    Summary
    This locus encodes a RING finger-like domain-containing protein. The encoded protein interacts with cullin proteins and likely plays a role in ubiquitination processes necessary for cell cycle progression. This protein may also affect protein turnover. Related pseudogenes exist on chromosomes 2 and 5.[provided by RefSeq, Sep 2010]
    Expression
    Ubiquitous expression in placenta (RPKM 27.7), bone marrow (RPKM 27.1) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RBX1 in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (40951378..40973309)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (41423571..41445506)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (41347382..41369313)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene X-prolyl aminopeptidase 3 Neighboring gene small nucleolar RNA U13 Neighboring gene RNA, U6 small nuclear 379, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:41346344-41346934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19103 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:41348114-41348702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:41387857-41388358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:41388359-41388858 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41416645-41417222 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:41418377-41418953 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41444536-41445346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41445347-41446155 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:41460351-41460851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19105 Neighboring gene small nucleolar RNA, C/D box 140 Neighboring gene ribosomal protein S9 pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.
    EBI GWAS Catalog
    Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 complexes with RBX1 (RBX2) PubMed
    vif Rbx1 I44A and Rbx2 I52A mutants disrupt the level of HIV-1 Vif-mediated APOBEC3G degradation in cells PubMed
    vif Both Cul5-Rbx1 and Cul5-Rbx2 interactions promote APOBEC3G polyubiquitination in vitro and this promotion depends on the presence of the Vif-CBFbeta-EloB-EloC complex PubMed
    vif HIV-1 Vif (amino acids 144-149; SLQXLA motif) interacts with cellular proteins Cul5, elongins B and C, and Rbx1 to form an Skp1-Cullin-F-box (SCF)-like complex that allows Vif to interact with APOBEC3G and induce its ubiquitination and degradation PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC1481, FLJ60363, MGC13357

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in DNA damage response EXP
    Inferred from Experiment
    more info
    PubMed 
    involved_in DNA damage response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in MAPK cascade TAS
    Traceable Author Statement
    more info
     
    involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in T cell activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to UV EXP
    Inferred from Experiment
    more info
    PubMed 
    involved_in cellular response to UV ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to amino acid stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to chemical stress TAS
    Traceable Author Statement
    more info
     
    involved_in negative regulation of canonical Wnt signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in negative regulation of response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of type I interferon production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of TORC1 signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    involved_in positive regulation of protein autoubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IC
    Inferred by Curator
    more info
    PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein K48-linked ubiquitination IC
    Inferred by Curator
    more info
    PubMed 
    involved_in protein K48-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein monoubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein neddylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein ubiquitination IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    involved_in regulation of cellular response to insulin stimulus IC
    Inferred by Curator
    more info
    PubMed 
    involved_in spermatogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of Cul2-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of Cul3-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of Cul4A-RING E3 ubiquitin ligase complex EXP
    Inferred from Experiment
    more info
    PubMed 
    part_of Cul4A-RING E3 ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of Cul4B-RING E3 ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of Cul5-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of Cul7-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of SCF ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of SCF ubiquitin ligase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of cullin-RING ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of cullin-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IC
    Inferred by Curator
    more info
    PubMed 
    is_active_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in nucleus IC
    Inferred by Curator
    more info
    PubMed 
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase RBX1
    Names
    E3 ubiquitin-protein transferase RBX1
    RING finger protein 75
    RING-box protein 1
    ZYP protein
    regulator of cullins 1
    ring-box 1, E3 ubiquitin protein ligase
    NP_055063.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_014248.4NP_055063.1  E3 ubiquitin-protein ligase RBX1

      See identical proteins and their annotated locations for NP_055063.1

      Status: REVIEWED

      Source sequence(s)
      AF140598, AL080242, DA353856, DN602016
      Consensus CDS
      CCDS14009.1
      UniProtKB/Swiss-Prot
      B2RDY1, P62877, Q8N6Z8, Q9D1S2, Q9WUK9, Q9Y254
      Related
      ENSP00000216225.8, ENST00000216225.9
      Conserved Domains (1) summary
      cd16485
      Location:40101
      mRING-H2-C3H2C2D_RBX1; modified RING finger, H2 subclass (C3H2C2D-type), found in RING-box protein 1 (RBX1) 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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      40951378..40973309
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      41423571..41445506
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)