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Aliases for RBX1 Gene

Aliases for RBX1 Gene

  • Ring-Box 1 2 3 5
  • Regulator Of Cullins 1 2 3 4
  • RING Finger Protein 75 3 4
  • RING-Box Protein 1 3 4
  • RNF75 3 4
  • ROC1 3 4
  • Ring-Box 1, E3 Ubiquitin Protein Ligase 3
  • E3 Ubiquitin-Protein Ligase RBX1 3
  • ZYP Protein 3
  • Protein ZYP 4
  • BA554C12.1 3
  • EC 6.3.2.- 4
  • Rbx1 4

External Ids for RBX1 Gene

Previous GeneCards Identifiers for RBX1 Gene

  • GC22P037961
  • GC22P039590
  • GC22P039671
  • GC22P041347
  • GC22P024308

Summaries for RBX1 Gene

Entrez Gene Summary for RBX1 Gene

  • 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]

GeneCards Summary for RBX1 Gene

RBX1 (Ring-Box 1) is a Protein Coding gene. Diseases associated with RBX1 include Renal Clear Cell Carcinoma and Xeroderma Pigmentosum, Complementation Group E. Among its related pathways are RET signaling and Signaling by NOTCH1. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin protein ligase binding. An important paralog of this gene is RNF7.

UniProtKB/Swiss-Prot for RBX1 Gene

  • E3 ubiquitin ligase component of multiple cullin-RING-based E3 ubiquitin-protein ligase (CRLs) complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins, including proteins involved in cell cycle progression, signal transduction, transcription and transcription-coupled nucleotide excision repair. CRLs complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins, ARIH1 mediating addition of the first ubiquitin on CRLs targets (PubMed:27565346). The functional specificity of the E3 ubiquitin-protein ligase complexes depends on the variable substrate recognition components. As a component of the CSA complex promotes the ubiquitination of ERCC6 resulting in proteasomal degradation. Through the RING-type zinc finger, seems to recruit the E2 ubiquitination enzyme, like CDC34, to the complex and brings it into close proximity to the substrate. Probably also stimulates CDC34 autoubiquitination. May be required for histone H3 and histone H4 ubiquitination in response to ultraviolet and for subsequent DNA repair. Promotes the neddylation of CUL1, CUL2, CUL4 and CUL4 via its interaction with UBE2M. Involved in the ubiquitination of KEAP1, ENC1 and KLHL41. In concert with ATF2 and CUL3, promotes degradation of KAT5 thereby attenuating its ability to acetylate and activate ATM.

Gene Wiki entry for RBX1 Gene

Additional gene information for RBX1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBX1 Gene

Genomics for RBX1 Gene

GeneHancer (GH) Regulatory Elements for RBX1 Gene

Promoters and enhancers for RBX1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22I040950 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 550.8 +0.2 220 3.1 HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 RBX1 EP300 XRCC6 EP300-AS1 ADSL DNAJB7 ST13 XPNPEP3 GC22P040976
GH22I041503 Enhancer 0.7 ENCODE dbSUPER 4.8 +553.0 553023 1.4 FOSL1 ZNF362 POLR2A MYNN EBF1 CSDC2 MEI1 RBX1 PIR44656 PIR38077 ACO2
GH22I040954 Enhancer 0.6 ENCODE 0.8 +4.2 4183 2 TAL1 MAFG CEBPB CBFA2T3 CEBPG ZNF592 GATA3 FOXK2 IKZF1 XPNPEP3 EP300 ST13 RBX1 GC22P040976
GH22I040965 Enhancer 0.9 Ensembl ENCODE 0.4 +15.1 15108 1.9 MEIS2 PKNOX1 ETV1 TEAD4 TAL1 TCF12 EGR1 NCOR1 STAT2 TRIM24 EP300 RNU6-375P ST13 XPNPEP3 MKL1 GC22P040976 RBX1
GH22I040941 Enhancer 0.4 Ensembl ENCODE 0.4 -9.1 -9144 0.7 RBX1 PIR37442
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RBX1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RBX1 gene promoter:

Genomic Locations for RBX1 Gene

Genomic Locations for RBX1 Gene
chr22:40,951,347-40,973,309
(GRCh38/hg38)
Size:
21,963 bases
Orientation:
Plus strand
chr22:41,347,351-41,369,313
(GRCh37/hg19)

Genomic View for RBX1 Gene

Genes around RBX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBX1 Gene

Proteins for RBX1 Gene

  • Protein details for RBX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62877-RBX1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RBX1
    Protein Accession:
    P62877
    Secondary Accessions:
    • B2RDY1
    • Q8N6Z8
    • Q9D1S2
    • Q9WUK9
    • Q9Y254

    Protein attributes for RBX1 Gene

    Size:
    108 amino acids
    Molecular mass:
    12274 Da
    Quaternary structure:
    • Part of a SCF complex consisting of CUL1, RBX1, SKP1 and SKP2. Part of a SCF-like complex consisting of CUL7, RBX1, SKP1 and FBXW8. Part of CBC(VHL) complexes with elongin BC complex (ELOB and ELOC), CUL2 or CUL5 and VHL. Part of the CSA complex (DCX(ERCC8) complex), a DCX E3 ubiquitin-protein ligase complex containing ERCC8, RBX1, DDB1 and CUL4A; the CSA complex interacts with RNA polymerase II; upon UV irradiation it interacts with the COP9 signalosome and preferentially with the hyperphosphorylated form of RNA polymerase II. Part of multisubunit E3 ubiquitin ligase complexes with elongin BC complex (ELOB and ELOC), CUL2 and MED8; elongin BC complex (ELOB and ELOC), CUL5 and MUF1. Part of multisubunit complexes with elongin BC complex (ELOB and ELOC), elongin A/ELOA or SOCS1 or WSB1 and CUL5. Interacts directly with CUL1 and probably also with CUL2, CUL3, CUL4A, CUL4B, CUL5 and CUL7. Probably interacts with CDC34. Interacts with COPS6. Component of the DCX DET1-COP1 ubiquitin ligase complex at least composed of RBX1, DET1, DDB1, CUL4A and COP1. Part of an E3 ligase complex composed of RBX1, DDB1, DDB2 and CUL4A or CUL4B. Interacts with UBE2M. Part of a SCF complex consisting of CUL1, FBXO3, RBX1 and SKP1; this complex interacts with PML via FBXO3. Interacts with human adenovirus 5 E1A protein; this interaction inhibits RBX1-CUL1-dependent elongation reaction of ubiquitin chains by the SCF(FBW7) complex (PubMed:19679664). Component of the SCF(Cyclin F) complex consisting of CUL1, RBX1, SKP1 and CCNF. Identified in a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complex together with HINT1 and CDC34. Component of multiple BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes formed of CUL3, RBX1 and a variable BTB domain-containing protein. Part of the BCR(ENC1) complex containing ENC1. Part of the BCR(GAN) complex containing GAN. Part of the BCR(KLHL41) complex containing KLHL41. Part of the BCR(KEAP1) complex containing KEAP1. Interacts with DCUN1D3. Interacts with SESN1 and SESN2 (PubMed:23274085).
    SequenceCaution:
    • Sequence=AAH17370.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RBX1 Gene

neXtProt entry for RBX1 Gene

Post-translational modifications for RBX1 Gene

  • Ubiquitination at Lys19, Lys20, and Lys105

Other Protein References for RBX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RBX1 Gene

Domains & Families for RBX1 Gene

Gene Families for RBX1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for RBX1 Gene

Suggested Antigen Peptide Sequences for RBX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P62877

UniProtKB/Swiss-Prot:

RBX1_HUMAN :
  • The RING-type zinc finger domain is essential for ubiquitin ligase activity. It coordinates an additional third zinc ion.
  • Belongs to the RING-box family.
Domain:
  • The RING-type zinc finger domain is essential for ubiquitin ligase activity. It coordinates an additional third zinc ion.
Family:
  • Belongs to the RING-box family.
genes like me logo Genes that share domains with RBX1: view

Function for RBX1 Gene

Molecular function for RBX1 Gene

GENATLAS Biochemistry:
ring-box 1
UniProtKB/Swiss-Prot Function:
E3 ubiquitin ligase component of multiple cullin-RING-based E3 ubiquitin-protein ligase (CRLs) complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins, including proteins involved in cell cycle progression, signal transduction, transcription and transcription-coupled nucleotide excision repair. CRLs complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins, ARIH1 mediating addition of the first ubiquitin on CRLs targets (PubMed:27565346). The functional specificity of the E3 ubiquitin-protein ligase complexes depends on the variable substrate recognition components. As a component of the CSA complex promotes the ubiquitination of ERCC6 resulting in proteasomal degradation. Through the RING-type zinc finger, seems to recruit the E2 ubiquitination enzyme, like CDC34, to the complex and brings it into close proximity to the substrate. Probably also stimulates CDC34 autoubiquitination. May be required for histone H3 and histone H4 ubiquitination in response to ultraviolet and for subsequent DNA repair. Promotes the neddylation of CUL1, CUL2, CUL4 and CUL4 via its interaction with UBE2M. Involved in the ubiquitination of KEAP1, ENC1 and KLHL41. In concert with ATF2 and CUL3, promotes degradation of KAT5 thereby attenuating its ability to acetylate and activate ATM.

Enzyme Numbers (IUBMB) for RBX1 Gene

Phenotypes From GWAS Catalog for RBX1 Gene

Gene Ontology (GO) - Molecular Function for RBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS --
GO:0005515 protein binding IPI 11961546
GO:0008134 transcription factor binding IPI 14739464
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with RBX1: view
genes like me logo Genes that share phenotypes with RBX1: view

Clone Products

  • Addgene plasmids for RBX1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RBX1 Gene

Localization for RBX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBX1 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RBX1 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS,IEA --
GO:0019005 SCF ubiquitin ligase complex ISS,IEA --
genes like me logo Genes that share ontologies with RBX1: view

Pathways & Interactions for RBX1 Gene

SuperPathway Contained pathways
1 RET signaling
2 CDK-mediated phosphorylation and removal of Cdc6
3 Signaling by NOTCH1
4 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
5 HIV Life Cycle
.45
genes like me logo Genes that share pathways with RBX1: view

UniProtKB/Swiss-Prot P62877-RBX1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for RBX1 Gene

Activates:

Gene Ontology (GO) - Biological Process for RBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000209 protein polyubiquitination TAS --
GO:0000715 nucleotide-excision repair, DNA damage recognition TAS --
GO:0000717 nucleotide-excision repair, DNA duplex unwinding TAS --
GO:0006281 DNA repair IEA --
genes like me logo Genes that share ontologies with RBX1: view

Drugs & Compounds for RBX1 Gene

(2) Drugs for RBX1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for RBX1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RBX1: view

Transcripts for RBX1 Gene

mRNA/cDNA for RBX1 Gene

Unigene Clusters for RBX1 Gene

Ring-box 1, E3 ubiquitin protein ligase:
Representative Sequences:

Clone Products

  • Addgene plasmids for RBX1

Alternative Splicing Database (ASD) splice patterns (SP) for RBX1 Gene

No ASD Table

Relevant External Links for RBX1 Gene

GeneLoc Exon Structure for
RBX1
ECgene alternative splicing isoforms for
RBX1

Expression for RBX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RBX1 Gene

Protein differential expression in normal tissues from HIPED for RBX1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (6.7) and Frontal cortex (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RBX1 Gene



Protein tissue co-expression partners for RBX1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RBX1 Gene:

RBX1

SOURCE GeneReport for Unigene cluster for RBX1 Gene:

Hs.474949

mRNA Expression by UniProt/SwissProt for RBX1 Gene:

P62877-RBX1_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for RBX1 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with RBX1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RBX1 Gene

Orthologs for RBX1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RBX1 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia RBX1 34
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rbx1 34
  • 100 (a)
OneToOne
Gm9840 33
  • 91.98 (n)
Rbx1-ps 16
platypus
(Ornithorhynchus anatinus)
Mammalia RBX1 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RBX1 33 34
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia RBX1 33
  • 97.84 (n)
cow
(Bos Taurus)
Mammalia RBX1 33 34 34
  • 97.22 (n)
chicken
(Gallus gallus)
Aves RBX1 33 34
  • 87.35 (n)
lizard
(Anolis carolinensis)
Reptilia RBX1 34
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rbx1 33
  • 81.17 (n)
zebrafish
(Danio rerio)
Actinopterygii rbx1 33 34
  • 82.72 (n)
fruit fly
(Drosophila melanogaster)
Insecta Roc1a 35 33 34
  • 78.67 (n)
Roc1b 35
  • 70 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005202 33
  • 75.64 (n)
worm
(Caenorhabditis elegans)
Secernentea rbx-1 33 34
  • 72.9 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HRT1 34 36
  • 52 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons RBX1 33
  • 71.67 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.459 33
barley
(Hordeum vulgare)
Liliopsida Hv.2894 33
rice
(Oryza sativa)
Liliopsida Os.20521 33
wheat
(Triticum aestivum)
Liliopsida Ta.5537 33
corn
(Zea mays)
Liliopsida Zm.4011 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rbx1 33
  • 67.6 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4811 33
Species where no ortholog for RBX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for RBX1 Gene

ENSEMBL:
Gene Tree for RBX1 (if available)
TreeFam:
Gene Tree for RBX1 (if available)

Paralogs for RBX1 Gene

Paralogs for RBX1 Gene

(2) SIMAP similar genes for RBX1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for RBX1 Gene

genes like me logo Genes that share paralogs with RBX1: view

Variants for RBX1 Gene

Sequence variations from dbSNP and Humsavar for RBX1 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000069516 -- 40,952,988(+) T/A intron_variant
rs1000098908 -- 40,952,676(+) A/G intron_variant
rs1000126795 -- 40,953,756(+) C/T intron_variant
rs1000151937 -- 40,968,392(+) G/A/C intron_variant
rs1000233610 -- 40,959,278(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RBX1 Gene

Variant ID Type Subtype PubMed ID
nsv1058653 CNV gain 25217958
nsv428389 CNV loss 18775914

Variation tolerance for RBX1 Gene

Residual Variation Intolerance Score: 54.8% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RBX1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBX1 Gene

Disorders for RBX1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for RBX1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
renal clear cell carcinoma
  • clear cell carcinoma of kidney
xeroderma pigmentosum, complementation group e
  • xpe
kidney cancer
  • malignant neoplasm of kidney except pelvis
familial hypertension
  • genetic hypertension
renal cell carcinoma, nonpapillary
  • rcc
- elite association - COSMIC cancer census association via MalaCards
Search RBX1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RBX1

genes like me logo Genes that share disorders with RBX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RBX1 Gene

Publications for RBX1 Gene

  1. ROC1, a homolog of APC11, represents a family of cullin partners with an associated ubiquitin ligase activity. (PMID: 10230407) Ohta T … Xiong Y (Molecular cell 1999) 2 3 4 22 58
  2. E2-RING expansion of the NEDD8 cascade confers specificity to cullin modification. (PMID: 19250909) Huang DT … Schulman BA (Molecular cell 2009) 3 4 22 58
  3. The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage. (PMID: 12732143) Groisman R … Nakatani Y (Cell 2003) 3 4 22 58
  4. CUL7: A DOC domain-containing cullin selectively binds Skp1.Fbx29 to form an SCF-like complex. (PMID: 12481031) Dias DC … Pan ZQ (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 4 22 58
  5. The CUL1 C-terminal sequence and ROC1 are required for efficient nuclear accumulation, NEDD8 modification, and ubiquitin ligase activity of CUL1. (PMID: 11027288) Furukawa M … Xiong Y (Molecular and cellular biology 2000) 3 4 22 58

Products for RBX1 Gene

  • Addgene plasmids for RBX1

Sources for RBX1 Gene

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