SH3BP5L Gene
SH3 Domain Binding Protein 5 Like
Gene Information Card
| Symbol | SH3BP5L |
|---|---|
| Full Name | SH3 Domain Binding Protein 5 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 80851 ncbi.nlm.nih.gov/gene/80851 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q8N9V2 |
| OMIM ID | 611988 |
| HGNC ID | 26038 |
| Aliases | SH3BP5L, SH3BP5-like, FLJ11127 |
Description
SH3BP5L (SH3 Domain Binding Protein 5 Like) is a protein-coding gene. The encoded protein contains an SH3 domain-binding motif and may play a role in intracellular signaling. It is broadly expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | No direct evidence from ClinVar or OMIM |
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 |
|---|---|---|
| HEK293 | 10.0 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 6.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | 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)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
Pathways
• No specific pathways curated
Protein Summary
The SH3BP5L protein is 396 amino acids long and contains an SH3 domain-binding motif. It is predicted to localize to the cytoplasm and may participate in protein-protein interactions involved in signal transduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SH3BP5L Knockout HEK293 Cell Line | EDJ-KQ9588 | Human | 80851 | 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 |
