SH3BP1

Chr 22

SH3 domain binding protein 1

Also known as: ARHGAP43

NCBI Gene: 23616 ENSG00000100092 UniProt: Q9Y3L3

The protein functions as a GTPase activating protein that specifically inactivates RAC1 and CDC42, regulating actin cytoskeleton dynamics, cell migration, epithelial junction formation, and angiogenesis. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability, developmental delay, and dysmorphic features. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.54), suggesting some tolerance to protein loss.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the Rho GTPase activating protein (RhoGAP) family. The encoded protein regulates Rac signaling and plays a role in cytoskeletal dynamics, cell motility and epithelial junction formation. This protein's association with the exocyst complex, which tethers secretory vesicles to the plasma membrane, has been demonstrated to be important in cell motility. In a distinct complex, this protein has been shown to regulate epithelial junction formation and morphogenesis. By interacting with the Plexin-D1 cell surface receptor, this protein mediates changes in the cytoskeleton in response to semaphorin binding. This protein may promote metastasis in human liver cancer cells and tissues. [provided by RefSeq, Mar 2017]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.54

LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)

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