SH3BP1: SH3 Domain Binding Protein 1
A BAR domain-containing GTPase-activating protein (GAP) for Rac1 and Cdc42, involved in cytoskeletal dynamics and cell migration.
Gene Information Card
| Symbol | SH3BP1 |
|---|---|
| Full Name | SH3 domain binding protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 23616 ncbi.nlm.nih.gov/gene/23616 |
| Ensembl ID | ENSG00000100226 |
| UniProt ID | Q9Y3L3 |
| OMIM ID | 608291 |
| HGNC ID | 10822 |
| Aliases | ARHGAP43, MGC138207 |
Description
SH3BP1 encodes a protein containing an N-terminal BAR domain and a C-terminal RhoGAP domain. It functions as a GTPase-activating protein (GAP) for Rac1 and Cdc42, promoting the hydrolysis of GTP to GDP, thereby inactivating these small GTPases. The BAR domain mediates membrane curvature sensing and binding. SH3BP1 plays a role in regulating actin cytoskeleton dynamics, cell migration, and endocytosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression or mutation may disrupt Rac1/Cdc42 signaling, affecting cell migration and invasion. | COSMIC; literature |
| Neurodevelopmental disorders | Rare variants implicated in intellectual disability and autism spectrum disorder. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Lung | 8.7 | Low |
| Kidney | 6.3 | Low |
| Testis | 4.1 | Low |
| Spleen | 2.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.1 | Embryonic kidney |
| HeLa | 9.8 | Cervical cancer |
| A549 | 7.4 | Lung cancer |
| SH-SY5Y | 14.6 | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | <0.01% | Unknown; predicted damaging |
| c.1456G>A (p.Glu486Lys) | Missense | <0.01% | Unknown; predicted benign |
Mutation functional classification
Loss of Function (LOF)
Loss of GAP activity leads to sustained Rac1/Cdc42 activation, promoting cell migration and invasion.
Gain of Function (GOF)
Not well characterized; potential hyperactive GAP could inhibit Rac1/Cdc42 excessively.
Dominant Negative (DN)
Not reported for SH3BP1.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Rac GTPase binding |
| • Cdc42 GTPase binding | • BAR domain binding |
| • actin cytoskeleton organization | • cell migration |
| • endocytosis |
Pathways
• Rac1/Cdc42 signaling
• Regulation of actin cytoskeleton
• Endocytosis
Protein Summary
SH3BP1 is a 595-amino acid protein with a BAR domain (residues 1-250) and a RhoGAP domain (residues 350-550). The BAR domain binds to curved membranes, while the RhoGAP domain inactivates Rac1 and Cdc42. The protein localizes to the cytoplasm and membrane ruffles, and is involved in cell motility and vesicle trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SH3BP1 Knockout HEK293 Cell Line | EDJ-KQ51121 | Human | 23616 | Details Get a Quote |
| SH3BP1 Knockout HeLa Cell Line | EDJ-KQ55781 | Human | 23616 | Details Get a Quote |
| SH3BP1 Knockout A-549 Cell Line | EDJ-KQ64276 | Human | 23616 | Details Get a Quote |
| SH3BP1 Knockout HCT 116 Cell Line | EDJ-KQ72722 | Human | 23616 | Details Get a Quote |
