N4BP3
NEDD4 Binding Protein 3
Gene Information Card
| Symbol | N4BP3 |
|---|---|
| Full Name | NEDD4 Binding Protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 23138 ncbi.nlm.nih.gov/gene/23138 |
| Ensembl ID | ENSG00000164327 |
| UniProt ID | Q8N488 |
| OMIM ID | 617202 |
| HGNC ID | 25019 |
| Aliases | KIAA1393, MGC138290 |
Description
N4BP3 (NEDD4 Binding Protein 3) is a protein-coding gene located on chromosome 5q35.3. The encoded protein contains a C-terminal NEDD4-binding motif and is involved in ubiquitination and protein trafficking pathways. N4BP3 is expressed in multiple tissues and may play a role in cellular signaling and development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.8 | Moderate expression |
| HeLa | 7.3 | Low expression |
| K562 | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • ubiquitin protein ligase binding |
| • cytoplasm | • nucleus |
Pathways
• Ubiquitin mediated proteolysis
Protein Summary
N4BP3 is a 748-amino acid protein that interacts with NEDD4 E3 ubiquitin ligases via a conserved PY motif. It is localized in the cytoplasm and nucleus and may regulate protein ubiquitination and trafficking. The protein is expressed in various tissues, with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| N4BP3 Knockout HEK293 Cell Line | EDJ-KQ7849 | Human | 23138 | Details Get a Quote |
| N4BP3 Knockout HCT 116 Cell Line | EDJ-KQ33404 | Human | 23138 | Details Get a Quote |
| N4BP3 Knockout HeLa Cell Line | EDJ-KQ55693 | Human | 23138 | Details Get a Quote |
| N4BP3 Knockout A-549 Cell Line | EDJ-KQ64191 | Human | 23138 | Details Get a Quote |
