Nfat activating protein with itam motif 1

Nfat Activating Protein with Itam Motif 1 (also known as NFAM1) is a protein that in humans is encoded by the NFAM1 gene. This protein plays a crucial role in the immune response and the development of immune cells.

Function

The NFAM1 protein is a member of the immunoglobulin superfamily and is primarily expressed in lymphoid tissue. It is involved in the activation of nuclear factor of activated T-cells (NFAT), a key transcription factor in the immune response. The protein contains an Immunoreceptor tyrosine-based activation motif (ITAM), which is essential for signal transduction in immune cells.

Structure

The NFAM1 protein is a type I transmembrane protein with an extracellular region that contains two immunoglobulin-like domains. The cytoplasmic region contains the ITAM motif, which is composed of two YxxL/I sequences separated by a spacer of 6-8 amino acids.

Role in Disease

Alterations in the NFAM1 gene or its protein product have been implicated in several diseases. For example, mutations in NFAM1 have been associated with autoimmune diseases such as rheumatoid arthritis and systemic lupus erythematosus. Additionally, overexpression of NFAM1 has been observed in certain types of cancer, suggesting a potential role in tumorigenesis.

Research

Research into NFAM1 is ongoing, with studies focusing on its role in immune cell activation and its potential as a therapeutic target in autoimmune diseases and cancer.

See Also

• Immunoglobulin superfamily
• Nuclear factor of activated T-cells
• Immunoreceptor tyrosine-based activation motif