KPTN

Description

The KPTN (kaptin, actin binding protein) is a protein-coding gene located on chromosome 19.

KPTN, a human gene, encodes a protein known as kaptin or Actin-associated protein 2E4. It is a component of the KICSTOR complex, which functions in the amino acid-sensing branch of the TORC1 signaling pathway.

KPTN is a component of the KICSTOR complex, which plays a crucial role in the amino acid-sensing branch of the TORC1 signaling pathway. It acts independently of amino acids to recruit the GATOR1 complex to lysosomal membranes, facilitating its interaction with GATOR2 and RAG GTPases. KPTN functions upstream of RAG GTPases and is essential for negatively regulating mTORC1 signaling in the absence of amino acids. Without the KICSTOR complex, mTORC1 remains constitutively localized to the lysosome and activated. The KICSTOR complex also likely participates in the regulation of mTORC1 by glucose.

KPTN is also known as 2E4, KICS4, MRT41.

Associated Diseases

• Intellectual developmental disorder, autosomal recessive 41
• Macrocephaly-developmental delay syndrome