WBP1 (WW Domain Binding Protein 1)
A gene encoding a protein involved in pre-mRNA splicing and cellular signaling, with implications in cancer and developmental disorders.
Gene Information Card
| Symbol | WBP1 |
|---|---|
| Full Name | WW Domain Binding Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p13.1 |
| NCBI Gene ID | 23559 ncbi.nlm.nih.gov/gene/23559 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | Q96G27 |
| OMIM ID | 606961 |
| HGNC ID | 12738 |
| Aliases | WBP-1, MGC138499 |
Description
WBP1 encodes a protein that contains a WW domain-binding motif and is involved in pre-mRNA splicing as a component of the spliceosome. The protein interacts with WW domain-containing proteins, such as YAP1 and TAZ, and may play a role in transcriptional regulation and cellular signaling. WBP1 is ubiquitously expressed and has been implicated in cancer progression and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations in WBP1 may affect splicing and signaling pathways, contributing to tumorigenesis. | COSMIC, ClinVar |
| Developmental disorders | Rare variants in WBP1 have been associated with neurodevelopmental phenotypes, possibly due to disrupted splicing. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain | 8.9 | Low |
| Liver | 7.1 | Low |
| Heart | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 12.3 | Medium expression |
| K562 | 9.8 | Low expression |
| MCF7 | 8.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.344G>A (p.Arg115His) | Missense | <0.01% | Unknown functional effect; reported in cancer samples |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Potential loss of function; observed in developmental disorder cases |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Arg163Trp may disrupt protein interactions and splicing function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • mRNA splicing | • via spliceosome |
| • protein binding | • nucleus |
| • cytoplasm | • RNA binding |
Pathways
• Spliceosome
• Hippo signaling pathway (via YAP1/TAZ interaction)
Protein Summary
The WBP1 protein (UniProt Q96G27) is 283 amino acids long and contains a WW domain-binding motif. It localizes to the nucleus and cytoplasm and is a component of the spliceosome, facilitating pre-mRNA splicing. Through interaction with WW domain-containing proteins, WBP1 may modulate transcriptional co-activators involved in cell proliferation and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WBP1L Knockout HEK293 Cell Line | EDJ-KQ16127 | Human | 54838 | Details Get a Quote |
| WBP1L Knockout A-549 Cell Line | EDJ-KQ47299 | Human | 54838 | Details Get a Quote |
| WBP1L Knockout HCT 116 Cell Line | EDJ-KQ47300 | Human | 54838 | Details Get a Quote |
| WBP1L Knockout HeLa Cell Line | EDJ-KQ47301 | Human | 54838 | Details Get a Quote |
| WBP1 Knockout HEK293 Cell Line | EDJ-KQ51116 | Human | 23559 | Details Get a Quote |
| WBP11 Knockout HEK293 Cell Line | EDJ-KQ51344 | Human | 51729 | Details Get a Quote |
| WBP1 Knockout HeLa Cell Line | EDJ-KQ55769 | Human | 23559 | Details Get a Quote |
| WBP11 Knockout HeLa Cell Line | EDJ-KQ56353 | Human | 51729 | Details Get a Quote |
| WBP1 Knockout A-549 Cell Line | EDJ-KQ64264 | Human | 23559 | Details Get a Quote |
| WBP11 Knockout A-549 Cell Line | EDJ-KQ64843 | Human | 51729 | Details Get a Quote |
| WBP1 Knockout HCT 116 Cell Line | EDJ-KQ72711 | Human | 23559 | Details Get a Quote |
| WBP11 Knockout HCT 116 Cell Line | EDJ-KQ73287 | Human | 51729 | Details Get a Quote |
