RNF130: Ring Finger Protein 130
E3 ubiquitin-protein ligase involved in immune regulation and protein degradation
Gene Information Card
| Symbol | RNF130 |
|---|---|
| Full Name | Ring Finger Protein 130 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 55819 ncbi.nlm.nih.gov/gene/55819 |
| Ensembl ID | ENSG00000113558 |
| UniProt ID | Q86XS8 |
| OMIM ID | 616815 |
| HGNC ID | HGNC:21157 |
| Aliases | G1RZ1, RING finger protein 130, FLJ12529 |
Description
RNF130 encodes a member of the RING finger protein family that functions as an E3 ubiquitin-protein ligase. The protein mediates ubiquitination and subsequent proteasomal degradation of target proteins, playing a role in immune signaling pathways, particularly in T-cell activation and regulation of NF-kappaB signaling. RNF130 is widely expressed and may be involved in cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association confirmed | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 9.2 | Medium |
| Lung | 6.1 | Low |
| Kidney | 5.3 | Low |
| Liver | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.4 | Embryonic kidney cells |
| Jurkat | 15.2 | T-cell leukemia line |
| K562 | 7.1 | Chronic myeloid leukemia |
| HeLa | 6.8 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown functional effect |
| c.100C>T | Nonsense | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.100C>T) likely lead to truncated protein and loss of E3 ligase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• NF-kappa B signaling pathway (Reactome: R-HSA-975138)
Protein Summary
RNF130 is a 403-amino acid protein containing a RING-type zinc finger domain characteristic of E3 ubiquitin ligases. It localizes to the cytoplasm and nucleus, and mediates ubiquitination of substrates involved in immune regulation. The protein interacts with components of the ubiquitin-proteasome system and modulates T-cell receptor signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF130 Knockout HEK293 Cell Line | EDJ-KQ14333 | Human | 55819 | Details Get a Quote |
| RNF130 Knockout A-549 Cell Line | EDJ-KQ45682 | Human | 55819 | Details Get a Quote |
| RNF130 Knockout HCT 116 Cell Line | EDJ-KQ45684 | Human | 55819 | Details Get a Quote |
| RNF130 Knockout HeLa Cell Line | EDJ-KQ45685 | Human | 55819 | Details Get a Quote |
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