STAP1

Chr 4

signal transducing adaptor family member 1

Also known as: BRDG1, STAP-1

NCBI Gene: 26228 ENSG00000035720 UniProt: Q9ULZ2 OMIM: 604298

STAP1 encodes a docking protein that functions in B-cell receptor signaling by interacting with and upregulating the tyrosine kinase TEC through a positive feedback loop. Mutations cause autosomal dominant hypercholesterolemia characterized by elevated LDL cholesterol levels and increased risk of coronary vascular disease. The gene shows very low constraint to loss-of-function variants (pLI 0.00002, LOEUF 1.02), suggesting tolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene contains a proline-rich region, a pleckstrin homology (PH) domain, and a region in the carboxy terminal half with similarity to the Src Homology 2 (SH2) domain. This protein is a substrate of tyrosine-protein kinase Tec, and its interaction with tyrosine-protein kinase Tec is phosphorylation-dependent. This protein is thought to participate in a positive feedback loop by upregulating the activity of tyrosine-protein kinase Tec. Variants of this gene have been associated with autosomal-dominant hypercholesterolemia (ADH), which is characterized by elevated low-density lipoprotein cholesterol levels and in increased risk of coronary vascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)