SH3BP5 (SH3 Domain-Binding Protein 5)
A scaffold protein involved in JNK signaling and mitochondrial function
Gene Information Card
| Symbol | SH3BP5 |
|---|---|
| Full Name | SH3 domain-binding protein 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p24.3 |
| NCBI Gene ID | 9467 ncbi.nlm.nih.gov/gene/9467 |
| Ensembl ID | ENSG00000114520 |
| UniProt ID | O60271 |
| OMIM ID | 605632 |
| HGNC ID | 10826 |
| Aliases | SAB, SH3BP-5, FLJ10656 |
Description
SH3BP5 (SH3 domain-binding protein 5) encodes a scaffold protein that interacts with the SH3 domain of Bruton's tyrosine kinase (BTK) and also serves as a mitochondrial scaffold for the JNK signaling pathway. It is involved in stress-induced apoptosis and mitochondrial dynamics. The gene is located on chromosome 3p24.3 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association in ClinVar | Not established | No pathogenic variants reported in ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.0 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 5.2 | 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)
Not characterized in disease context
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • SH3 domain binding |
| • JUN kinase binding | • mitochondrion |
| • cytoplasm | • JNK cascade |
| • apoptotic process |
Pathways
• JNK signaling pathway
• BTK signaling pathway
Protein Summary
SH3BP5 is a 455-amino acid scaffold protein that localizes to mitochondria and interacts with JNK and BTK. It facilitates JNK-mediated phosphorylation of mitochondrial proteins, promoting apoptosis under stress conditions. The protein contains an N-terminal SH3-binding domain and a C-terminal mitochondrial targeting sequence.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SH3BP5 Knockout HEK293 Cell Line | EDJ-KQ2685 | Human | 9467 | Details Get a Quote |
| SH3BP5L Knockout HEK293 Cell Line | EDJ-KQ9588 | Human | 80851 | Details Get a Quote |
| SH3BP5 Knockout A-549 Cell Line | EDJ-KQ23498 | Human | 9467 | Details Get a Quote |
| SH3BP5 Knockout HCT 116 Cell Line | EDJ-KQ23499 | Human | 9467 | Details Get a Quote |
| SH3BP5 Knockout HeLa Cell Line | EDJ-KQ23500 | Human | 9467 | Details Get a Quote |
| SH3BP5L Knockout A-549 Cell Line | EDJ-KQ36415 | Human | 80851 | Details Get a Quote |
| SH3BP5L Knockout HCT 116 Cell Line | EDJ-KQ36416 | Human | 80851 | Details Get a Quote |
| SH3BP5L Knockout HeLa Cell Line | EDJ-KQ36417 | Human | 80851 | Details Get a Quote |
