RNF31 Gene - Ring Finger Protein 31
Key regulator of NF-kappa-B signaling and linear ubiquitination
Gene Information Card
| Symbol | RNF31 |
|---|---|
| Full Name | Ring Finger Protein 31 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q12 |
| NCBI Gene ID | 55072 ncbi.nlm.nih.gov/gene/55072 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q96EP0 |
| OMIM ID | 612487 |
| HGNC ID | 17161 |
| Aliases | HOIP, ZIBRA, RNF31, FLJ10404 |
Description
RNF31 encodes the protein HOIP (HOIL-1 interacting protein), a core component of the linear ubiquitin chain assembly complex (LUBAC). LUBAC generates linear (M1-linked) ubiquitin chains that regulate NF-kappa-B activation and immune signaling. RNF31 is essential for innate immunity, inflammation, and cell survival.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency 102 with autoinflammation | Loss-of-function mutations in RNF31 impair LUBAC activity, reducing NF-kappa-B activation and leading to immune dysregulation | OMIM #618048; ClinVar |
| Breast cancer | Overexpression of RNF31 promotes NF-kappa-B signaling and tumor progression | COSMIC; PMID: 26030138 |
| Inflammatory bowel disease | RNF31 variants associated with altered linear ubiquitination and intestinal inflammation | GWAS; PMID: 28067908 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 18.5 | High |
| Spleen | 15.2 | High |
| Bone marrow | 12.8 | Medium |
| Lung | 8.3 | Medium |
| Brain | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.1 | High expression in embryonic kidney cells |
| Jurkat | 19.4 | T-cell line, high expression |
| HeLa | 14.7 | Cervical cancer cell line |
| HepG2 | 9.8 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2038C>T (p.Arg680*) | Nonsense | Rare | Loss of function; truncation of HOIP |
| c.1174A>G (p.Thr392Ala) | Missense | 0.01% (gnomAD) | Reduced LUBAC stability and NF-kappa-B activation |
| c.1685G>A (p.Arg562Gln) | Missense | 0.005% | Impaired ubiquitin ligase activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt HOIP catalytic activity or LUBAC assembly lead to impaired NF-kappa-B signaling and immunodeficiency.
Gain of Function (GOF)
Not well documented; overexpression in cancers may confer gain-of-function through sustained NF-kappa-B activation.
Dominant Negative (DN)
Some missense variants (e.g., p.Thr392Ala) may act dominant-negative by incorporating into LUBAC and reducing overall activity.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NF-kappa B signaling pathway (KEGG: hsa04064)
• Linear ubiquitination pathway (Reactome: R-HSA-983168)
• TNF signaling pathway (KEGG: hsa04668)
• NOD-like receptor signaling pathway (KEGG: hsa04621)
Protein Summary
HOIP (RNF31) is a 1076-amino acid E3 ubiquitin ligase containing a RING-IBR-RING (RBR) domain, a PUB domain, and a NZF zinc finger. It catalyzes the formation of linear (M1-linked) ubiquitin chains as part of LUBAC. HOIP interacts with HOIL-1 and SHARPIN to form the active complex. Its activity is critical for NF-kappa-B activation downstream of TNF, IL-1, and Toll-like receptors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF31 Knockout HEK293 Cell Line | EDJ-KQ2007 | Human | 55072 | Details Get a Quote |
| RNF31 Knockout A-549 Cell Line | EDJ-KQ23390 | Human | 55072 | Details Get a Quote |
| RNF31 Knockout HCT 116 Cell Line | EDJ-KQ23392 | Human | 55072 | Details Get a Quote |
| RNF31 Knockout HeLa Cell Line | EDJ-KQ23393 | Human | 55072 | Details Get a Quote |
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