NDFIP1 Gene - Nedd4 Family Interacting Protein 1
Key regulator of ubiquitin ligase activity and immune signaling
Gene Information Card
| Symbol | NDFIP1 |
|---|---|
| Full Name | Nedd4 family interacting protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 80762 ncbi.nlm.nih.gov/gene/80762 |
| Ensembl ID | ENSG00000113595 |
| UniProt ID | Q9BT92 |
| OMIM ID | 610075 |
| HGNC ID | 25579 |
| Aliases | N4WBP5, NEDD4BP1, NEDD4 binding protein 1 |
Description
NDFIP1 encodes a protein that interacts with Nedd4 family ubiquitin ligases, modulating their activity and substrate specificity. It plays a critical role in regulating immune signaling, particularly T-cell activation and cytokine production, by controlling the ubiquitination and degradation of key signaling molecules. NDFIP1 is also implicated in neuronal development and synaptic function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered NDFIP1 expression may affect ubiquitin-mediated degradation of tumor suppressors | PMID: 23455423 |
| Neurodegenerative disorders | Dysregulation of Nedd4 ligase activity linked to protein aggregation | PMID: 25621951 |
| Immune dysregulation | NDFIP1 deficiency impairs T-cell receptor signaling and cytokine balance | PMID: 22406533 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Lung | 8.7 | Low |
| Liver | 6.3 | Low |
| Kidney | 12.1 | Medium |
| Testis | 18.5 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.3 | Embryonic kidney |
| Jurkat | 22.1 | T-cell leukemia |
| MCF7 | 9.8 | Breast cancer |
| SH-SY5Y | 16.7 | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96Gln) | Missense | <0.01% | Altered protein interaction with Nedd4 |
| c.412C>T (p.Arg138Trp) | Missense | <0.01% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Reduced binding to Nedd4 ligases, impairing ubiquitination
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • ubiquitin protein ligase binding |
| • regulation of protein ubiquitination | • immune system process |
| • positive regulation of T-cell activation |
Pathways
• Ubiquitin mediated proteolysis (KEGG hsa04120)
• T-cell receptor signaling pathway (KEGG hsa04660)
Protein Summary
The NDFIP1 protein (UniProt Q9BT92) is a 249-amino acid membrane-associated protein that contains a PY motif essential for interaction with WW domains of Nedd4 family E3 ubiquitin ligases. It localizes to the Golgi apparatus and endosomes, facilitating the ubiquitination and trafficking of target proteins. NDFIP1 is highly expressed in brain and immune cells, where it modulates signaling pathways critical for cellular homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDFIP1 Knockout HEK293 Cell Line | EDJ-KQ9563 | Human | 80762 | Details Get a Quote |
| NDFIP1 Knockout A-549 Cell Line | EDJ-KQ35110 | Human | 80762 | Details Get a Quote |
| NDFIP1 Knockout HCT 116 Cell Line | EDJ-KQ36367 | Human | 80762 | Details Get a Quote |
| NDFIP1 Knockout HeLa Cell Line | EDJ-KQ36368 | Human | 80762 | Details Get a Quote |
