RNF111 (Ring Finger Protein 111)
E3 ubiquitin-protein ligase involved in DNA damage response and TGF-β signaling
Gene Information Card
| Symbol | RNF111 |
|---|---|
| Full Name | Ring Finger Protein 111 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q21.3 |
| NCBI Gene ID | 27178 ncbi.nlm.nih.gov/gene/27178 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q6ZNA4 |
| OMIM ID | 612491 |
| HGNC ID | 18766 |
| Aliases | ARK, UIPL1, hRNF111 |
Description
RNF111 (Ring Finger Protein 111) encodes an E3 ubiquitin-protein ligase that plays a critical role in the DNA damage response by promoting the ubiquitination of proteins involved in nucleotide excision repair and in TGF-β signaling through the ubiquitination of SMAD proteins. The protein contains a RING finger domain and a nuclear localization signal, and it is involved in the regulation of cell proliferation and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of RNF111-mediated ubiquitination may alter DNA repair and TGF-β signaling, contributing to tumorigenesis. | COSMIC; literature |
| Fanconi anemia-like phenotype (rare) | Potential loss-of-function mutations impairing DNA repair pathways. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.3 | Low |
| Lymph node | 7.1 | Low |
| Brain | 5.2 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney; moderate expression |
| HeLa | 8.9 | Cervical carcinoma; moderate expression |
| K562 | 6.5 | Leukemia; low expression |
| A549 | 5.1 | Lung carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncated protein |
| c.567_568insA (p.Glu190Argfs*5) | Frameshift | <0.1% | Loss of function; premature stop |
| c.2101G>A (p.Gly701Arg) | Missense | <0.1% | Unknown effect; rare variant |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, impairing ubiquitin ligase activity.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Not reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG hsa04350)
• Ubiquitin mediated proteolysis (KEGG hsa04120)
• Nucleotide excision repair (Reactome R-HSA-5696398)
Protein Summary
RNF111 is a 949-amino acid E3 ubiquitin-protein ligase containing a RING-type zinc finger domain. It localizes to the nucleus and mediates the ubiquitination of target proteins such as SMAD7 and XPC, thereby regulating TGF-β signaling and nucleotide excision repair. The protein is expressed in multiple tissues, with highest levels in testis and bone marrow.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF111 Knockout HEK293 Cell Line | EDJ-KQ15095 | Human | 54778 | Details Get a Quote |
| RNF111 Knockout A-549 Cell Line | EDJ-KQ45670 | Human | 54778 | Details Get a Quote |
| RNF111 Knockout HCT 116 Cell Line | EDJ-KQ45671 | Human | 54778 | Details Get a Quote |
| RNF111 Knockout HeLa Cell Line | EDJ-KQ45672 | Human | 54778 | Details Get a Quote |
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