TESPA1

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Description

The TESPA1 (thymocyte expressed, positive selection associated 1) is a protein-coding gene located on chromosome 12.

TESPA1 is a protein encoded by the TESPA1 gene in humans. It is expressed in thymocytes and plays a role in positive selection during T-cell development.

TESPA1 is essential for the late stages of thymocyte development, contributing to the maturation of T-cells. It plays a role in the activation of ERK and NFAT signaling pathways triggered by T-cell antigen receptor (TCR), potentially acting as a scaffolding protein that facilitates the assembly of the LAT signalosome in thymocytes. TESPA1 may also regulate inositol 1,4,5-trisphosphate receptor-mediated Ca(2+) release and mitochondrial Ca(2+) uptake through the mitochondria-associated endoplasmic reticulum membrane (MAM) compartment.

TESPA1 is also known as HSPC257, ITPRID3, KIAA0748.

Associated Diseases

• childhood onset asthma
• asthma
• allergic asthma
• common variable immunodeficiency
• combined immunodeficiency with skin granulomas
• severe combined immunodeficiency due to CARD11 deficiency
• T-B+ severe combined immunodeficiency due to JAK3 deficiency
• short-limb skeletal dysplasia with severe combined immunodeficiency
• severe combined immunodeficiency due to CTPS1 deficiency
• immunodeficiency 18
• reticular dysgenesis
• immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
• immunodeficiency 72 with autoinflammation
• immunodeficiency 105
• immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia