RAS p21 protein activator 1

Protein RASA1 PDB 1wer

RAS p21 protein activator 1

RAS p21 protein activator 1 is a protein-coding gene that plays a crucial role in cell signaling pathways. It is also known as RASA1.

Function

The primary function of RAS p21 protein activator 1 is to regulate the activity of Ras proteins, which are essential for cell growth and differentiation. By acting as a GTPase-activating protein (GAP), RASA1 promotes the hydrolysis of GTP to GDP, thereby inactivating Ras proteins and terminating downstream signaling cascades.

Structure

The gene encoding RAS p21 protein activator 1 is located on chromosome 5 in humans. The protein consists of multiple domains, including a Ras GTPase-activating domain and a Pleckstrin homology domain, which are critical for its function in signal transduction pathways.

Clinical significance

Mutations in the RASA1 gene have been associated with a rare genetic disorder known as capillary malformation-arteriovenous malformation (CM-AVM) syndrome. This condition is characterized by abnormal blood vessel formation, leading to various vascular anomalies such as capillary malformations and arteriovenous malformations.

Role in disease

RAS p21 protein activator 1 is implicated in the pathogenesis of several diseases, including cancer and cardiovascular disorders. Dysregulation of Ras signaling due to aberrant RASA1 function can contribute to uncontrolled cell proliferation and tumor formation.

Interactions

RAS p21 protein activator 1 interacts with multiple proteins involved in Ras signaling pathways, such as Ras proteins themselves, as well as other GAPs and guanine nucleotide exchange factors (GEFs). These interactions modulate the activity of Ras proteins and fine-tune cellular responses to extracellular stimuli.