SH3BP5L

Chr 1

SH3 binding domain protein 5 like

NCBI Gene: 80851 ENSG00000175137 UniProt: Q7L8J4

The SH3BP5L protein functions as a guanine nucleotide exchange factor for RAB11A and is involved in intracellular signal transduction in the cytoplasm. Mutations in this gene cause autosomal recessive neurodevelopmental disorder with epilepsy and brain atrophy. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.596), and the associated disorder involves the nervous system with seizures and structural brain abnormalities.

ResearchSummary from RefSeq, UniProt

Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in intracellular signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

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)

—

P/LP submissions

—

P/LP missense

0.60

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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