SH3RF1 Gene
SH3 Domain Containing Ring Finger 1
Gene Information Card
| Symbol | SH3RF1 |
|---|---|
| Full Name | SH3 Domain Containing Ring Finger 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q32.3 |
| NCBI Gene ID | 57630 ncbi.nlm.nih.gov/gene/57630 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | Q7Z6J0 |
| OMIM ID | 608415 |
| HGNC ID | 26250 |
| Aliases | POSH, RNF142, SH3MD2, FLJ00060 |
Description
SH3RF1 (SH3 Domain Containing Ring Finger 1) encodes a protein that functions as an E3 ubiquitin ligase, playing a critical role in the ubiquitination and subsequent proteasomal degradation of target proteins. It is involved in the regulation of the JNK signaling pathway, apoptosis, and cell migration. The protein contains an N-terminal RING finger domain and multiple SH3 domains, which mediate protein-protein interactions. SH3RF1 is implicated in various cellular processes including neuronal development, stress response, and tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroblastoma | SH3RF1 overexpression promotes cell proliferation and migration via JNK pathway activation | PMID: 25605248 |
| Breast Cancer | SH3RF1 amplification correlates with poor prognosis and enhanced tumor growth | PMID: 28411363 |
| Alzheimer's Disease | SH3RF1 interacts with tau and modulates tau ubiquitination and aggregation | PMID: 30929736 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.8 | High expression |
| HeLa | 11.2 | Moderate expression |
| SH-SY5Y | 18.5 | High expression |
| MCF7 | 9.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | 0.01% | Altered substrate binding |
| c.1456G>A (p.Glu486Lys) | Missense | 0.005% | Potential loss of E3 ligase activity |
| c.789_790insA | Frameshift | <0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the RING finger domain lead to loss of E3 ubiquitin ligase activity.
Gain of Function (GOF)
Missense mutations in the SH3 domains may enhance protein-protein interactions, potentially increasing JNK signaling.
Dominant Negative (DN)
Mutations that retain substrate binding but lack catalytic activity can act as dominant negatives by sequestering substrates.
View complete mutation data：
Gene Ontology (GO)
| • Ubiquitin protein ligase activity | • Protein ubiquitination |
| • JNK cascade | • Apoptotic process |
| • Cell migration | • Protein homodimerization activity |
Pathways
• JNK signaling pathway
• Ubiquitin mediated proteolysis
• Apoptosis
Protein Summary
SH3RF1 is a 888-amino acid protein with a molecular weight of approximately 100 kDa. It contains a RING finger domain (residues 20-60) and four SH3 domains (residues 130-185, 220-275, 310-365, 400-455). The RING finger domain is essential for E3 ubiquitin ligase activity, while the SH3 domains mediate interactions with proline-rich motifs in target proteins such as JNK, MAP3Ks, and tau. The protein localizes to the cytoplasm and nucleus, and its expression is regulated by stress signals.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SH3RF1 Knockout HEK293 Cell Line | EDJ-KQ2640 | Human | 57630 | Details Get a Quote |
| SH3RF1 Knockout A-549 Cell Line | EDJ-KQ22030 | Human | 57630 | Details Get a Quote |
| SH3RF1 Knockout HCT 116 Cell Line | EDJ-KQ23399 | Human | 57630 | Details Get a Quote |
| SH3RF1 Knockout HeLa Cell Line | EDJ-KQ23400 | Human | 57630 | Details Get a Quote |
