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Gene Gene information from NCBI Gene database.
Entrez ID 9978
Gene name Ring-box 1
Gene symbol RBX1
Synonyms (NCBI Gene)
BA554C12.1RNF75ROC1
Chromosome 22
Chromosome location 22q13.2
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. Re
miRNA miRNA information provided by mirtarbase database.
177 Show/Hide all (177)
miRTarBase ID miRNA Experiments Reference
MIRT049206 hsa-miR-92a-3p CLASH 23622248
MIRT054190 hsa-miR-194-5p FlowLuciferase reporter assayqRT-PCRWestern blot 25412959
MIRT054190 hsa-miR-194-5p FlowLuciferase reporter assayqRT-PCRWestern blot 25412959
MIRT719975 hsa-miR-6892-3p HITS-CLIP 19536157
MIRT719974 hsa-miR-2276-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
141 Show/Hide all (141)
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IDA 28890335
GO:0000082 Process G1/S transition of mitotic cell cycle IDA 25438055
GO:0000165 Process MAPK cascade TAS
GO:0000209 Process Protein polyubiquitination IDA 14528312
GO:0000423 Process Mitophagy IMP 22505714
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603814 9928 ENSG00000100387
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P62877
Protein name E3 ubiquitin-protein ligase RBX1 (EC 2.3.2.27) (EC 2.3.2.32) (E3 ubiquitin-protein transferase RBX1) (Protein ZYP) (RING finger protein 75) (RING-box protein 1) (Rbx1) (Regulator of cullins 1) (ROC1) [Cleaved into: E3 ubiquitin-protein ligase RBX1, N-term
Protein 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 progre
PDB 1LDJ , 1LDK , 1U6G , 2HYE , 2LGV , 3DPL , 3DQV , 3RTR , 4F52 , 4P5O , 5N4W , 6R6H , 6R7F , 6R7H , 6R7I , 6R7N , 6TTU , 7B5L , 7B5M , 7B5N , 7B5S , 7OKQ , 7PLO , 7Z8B , 7Z8R , 7Z8T , 7Z8V , 7ZBW , 7ZBZ , 8B3G , 8B3I , 8CDJ , 8CDK , 8GQ6 , 8H33 , 8H34 , 8H35 , 8H36 , 8H37 , 8H38 , 8H3A , 8H3F , 8H3Q , 8H3R , 8IJ1 , 8JAQ , 8JAS , 8JAV , 8JE1 , 8K9I , 8KHP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12678 zf-rbx1 40 → 98 RING-H2 zinc finger domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed.
Sequence
MAAAMDVDTPSGTNSGAGKKRFEVKKWNAVALWAWDIVVDNCAICRNHIMDLCIECQANQ
ASATSEECTVAWGVCNHAFHFHCISRWLKTRQVCPLDN
REWEFQKYGH
Sequence length 108
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Nucleotide excision repair Recognition of DNA damage by PCNA-containing replication complex
HIF-1 signaling pathway Prolactin receptor signaling
Cell cycle Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Oocyte meiosis Vif-mediated degradation of APOBEC3G
Ubiquitin mediated proteolysis Degradation of beta-catenin by the destruction complex
Protein processing in endoplasmic reticulum Constitutive Signaling by NOTCH1 PEST Domain Mutants
Wnt signaling pathway Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling
TGF-beta signaling pathway Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Circadian rhythm Degradation of DVL
Shigellosis Degradation of GLI1 by the proteasome
Human immunodeficiency virus 1 infection GLI3 is processed to GLI3R by the proteasome
Pathways in cancer Hedgehog 'on' state
Renal cell carcinoma Regulation of RAS by GAPs
  DNA Damage Recognition in GG-NER
  Formation of Incision Complex in GG-NER
  Dual Incision in GG-NER
  Formation of TC-NER Pre-Incision Complex
  Transcription-Coupled Nucleotide Excision Repair (TC-NER)
  Dual incision in TC-NER
  Gap-filling DNA repair synthesis and ligation in TC-NER
  Orc1 removal from chromatin
  FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
  Regulation of RUNX2 expression and activity
  Neddylation
  Interleukin-1 signaling
  Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (9)
Phenotype Name Clinical Significance Source Reference Evidence Score
CROHN'S DISEASE — GWAS catalog 22936669
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE — GWAS catalog 22936669
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA — GWAS catalog 35835914
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER — GWAS catalog 29942085, 30643256, 32606422, 41233554
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER — GWAS catalog 29942085, 30643256
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (69)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anxiety Anxiety Disorder GWASCAT_DG 29942085
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 23667514, 26742010
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 20680678
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 28946546, 30237511 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 22935614, 25540389 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 22965024 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 23667514, 26742010
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 28946546 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 25114896
★★★★★
★☆☆☆☆
Found in Text Mining only
Chromosomal Instability Chromosomal instability Pubtator 33290867, 36496990 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only