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

Gene ID: 9978, updated on 13-Apr-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
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Genomic context

Location:
22q13.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (40951378..40973309)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (41423571..41445506)
105.20220307 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
  • 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 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)

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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_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_2023_10

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)