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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SH3BP1
SH3 domain binding protein 1
Chromosome 22 · 22q13.1
NCBI Gene: 23616Ensembl: ENSG00000100092.25HGNC: HGNC:10824UniProt: A0A2X0SFX7
40PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
exocystGTPase activator activityprotein bindingsemaphorin receptor bindingneurodegenerative diseaseopen-angle glaucomaglaucomamelanoma
✦AI Summary

SH3BP1 is a GTPase-activating protein (GAP) that inactivates Rho-family GTPases, particularly RAC1 and CDC42, converting them from their active GTP-bound to inactive GDP-bound states 12. In cell migration, SH3BP1 spatiotemporally regulates RAC1 activity at the leading edge to control protrusion organization 1. During epithelial junction formation, SH3BP1 forms a complex with JACOP/paracingulin and CD2AP to confine CDC42 activity and coordinate actin remodeling through CapZ 2. SH3BP1 functions in phagocytosis of large particles through PI3K-dependent recruitment to particle engagement sites, where it inactivates RAC1/CDC42 to facilitate actin reorganization and engulfment. In angiogenesis and semaphorin-plexin signaling, SH3BP1 dissociates from PLXND1 upon SEMA3E binding and inactivates RAC1, triggering actin cytoskeleton reorganization and cell collapse 3. Clinically, SH3BP1 dysregulation associates with multiple malignancies. In hepatocellular carcinoma, elevated SH3BP1 promotes metastasis through RAC1-WAVE2 signaling and predicts poor prognosis 45. Similarly, in cervical cancer, high SH3BP1 correlates with enhanced migration, invasion, and cisplatin chemoresistance via RAC1-WAVE2 pathway activation 6. In chr22 myeloid leukemia, SH3BP1 activation through the Cobll1/PACSIN2 interaction promotes TKI resistance and blast crisis progression 7. Conversely, in gastric cancer and acute myeloid leukemia, SH3BP1 functions as a tumor suppressor, with elevated expression correlating with enhanced CD8+ T-cell immunity and reduced progression 89. These context-dependent roles suggest SH3BP1 as a potential therapeutic target across multiple cancer types.

Sources cited
1
SH3BP1 is a GTPase-activating protein (GAP) that inactivates Rho-family GTPases, particularly RAC1 and CDC42, converting them from their active GTP-bound to inactive GDP-bound states , .
PMID: 21658605
2
SH3BP1 is a GTPase-activating protein (GAP) that inactivates Rho-family GTPases, particularly RAC1 and CDC42, converting them from their active GTP-bound to inactive GDP-bound states , .
PMID: 22891260
3
In angiogenesis and semaphorin-plexin signaling, SH3BP1 dissociates from PLXND1 upon SEMA3E binding and inactivates RAC1, triggering actin cytoskeleton reorganization and cell collapse .
PMID: 24841563
4
Similarly, in cervical cancer, high SH3BP1 correlates with enhanced migration, invasion, and cisplatin chemoresistance via RAC1-WAVE2 pathway activation .
PMID: 28786507
5
In chr22 myeloid leukemia, SH3BP1 activation through the Cobll1/PACSIN2 interaction promotes TKI resistance and blast crisis progression .
PMID: 35352878
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.52Moderate
open-angle glaucomaOpen Targets
0.16Weak
glaucomaOpen Targets
0.13Weak
melanomaOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.06Suggestive
chronic myelogenous leukemiaOpen Targets
0.06Suggestive
smoking initiationOpen Targets
0.05Suggestive
colorectal cancerOpen Targets
0.05Suggestive
cancerOpen Targets
0.04Suggestive
osteoarthritis, hipOpen Targets
0.03Suggestive
HydrocephalusOpen Targets
0.03Suggestive
mathematical abilityOpen Targets
0.03Suggestive
acute myeloid leukemiaOpen Targets
0.03Suggestive
attention deficit hyperactivity disorderOpen Targets
0.03Suggestive
intelligenceOpen Targets
0.03Suggestive
autism spectrum disorderOpen Targets
0.03Suggestive
cervical cancerOpen Targets
0.03Suggestive
medical procedureOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ARHGAP44Protein interaction84%SH3KBP1Protein interaction83%ARHGAP17Protein interaction62%ARHGAP25Shared pathway33%RHOFShared pathway31%ARHGAP12Shared pathway23%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
50%
Ovary
37%
Brain
34%
Liver
24%
Heart
5%
Gene Interaction Network
Click a node to explore
SH3BP1ARHGAP44SH3KBP1ARHGAP17ARHGAP25RHOFARHGAP12
PROTEIN STRUCTURE
Preparing viewer…
PDB4J9F · 1.09 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.90LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.54–0.90]
RankingsWhere SH3BP1 stands among ~20K protein-coding genes
  • #10,234of 20,598
    Most Researched40
  • #8,179of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedSH3BP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Reciprocal interactions among Cobll1, PACSIN2, and SH3BP1 regulate drug resistance in chronic myeloid leukemia.
PMID: 35352878
Cancer Med · 2022
1.00
2
SH3-domain binding protein 1 in the tumor microenvironment promotes hepatocellular carcinoma metastasis through WAVE2 pathway.
PMID: 26933917
Oncotarget · 2016
0.90
3
Multi-omics unravel heterogeneity of glucose metabolism reprogramming in gastric cancer.
PMID: 41249595
Clin Exp Med · 2025
0.80
4
SH3BP1-induced Rac-Wave2 pathway activation regulates cervical cancer cell migration, invasion, and chemoresistance to cisplatin.
PMID: 28786507
J Cell Biochem · 2018
0.70
5
A family affair: A Ral-exocyst-centered network links Ras, Rac, Rho signaling to control cell migration.
PMID: 28498728
Small GTPases · 2019
0.60