NPIPB3
Nuclear Pore Complex Interacting Protein Family Member B3
Gene Information Card
| Symbol | NPIPB3 |
|---|---|
| Full Name | Nuclear Pore Complex Interacting Protein Family Member B3 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 23117 ncbi.nlm.nih.gov/gene/23117 |
| Ensembl ID | ENSG00000161981 |
| UniProt ID | Q9H0R8 |
| OMIM ID | 614153 |
| HGNC ID | 24950 |
| Aliases | NPIPB3, NPIP-like protein B3, MGC138290 |
Description
NPIPB3 (Nuclear Pore Complex Interacting Protein Family Member B3) is a protein-coding gene located on chromosome 16p13.3. It belongs to the NPIP (nuclear pore complex interacting protein) family, which is involved in nuclear transport and cell cycle regulation. The gene is primarily expressed in testis and certain cancer cell lines. NPIPB3 has been implicated in nuclear pore complex dynamics and may play a role in spermatogenesis and tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in OMIM or ClinVar | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 5.8 | Low |
| Brain | 3.1 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.5 | Moderate expression |
| HeLa | 8.3 | Low expression |
| K562 | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore | • protein binding |
| • nucleocytoplasmic transport |
Pathways
• Nuclear pore complex assembly
• mRNA transport
Protein Summary
NPIPB3 encodes a protein of 364 amino acids that localizes to the nuclear pore complex. It contains a conserved NPIP domain and is predicted to interact with nucleoporins. The protein may regulate nuclear transport and cell cycle progression. Expression is enriched in testis, suggesting a role in spermatogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NPIPB3 Knockout HEK293 Cell Line | EDJ-KQ51081 | Human | 23117 | Details Get a Quote |
| NPIPB3 Knockout HeLa Cell Line | EDJ-KQ55689 | Human | 23117 | Details Get a Quote |
| NPIPB3 Knockout A-549 Cell Line | EDJ-KQ64188 | Human | 23117 | Details Get a Quote |
| NPIPB3 Knockout HCT 116 Cell Line | EDJ-KQ72632 | Human | 23117 | Details Get a Quote |
