KPTN Rabbit Polyclonal Antibody (ER2001-17)

UNIPROT #

Q96GT1

PROTEIN NAME

KPTN

SYNONYMS

2E4 antibody;actin associated protein 2E4 antibody;actin binding protein antibody;Actin-associated protein 2E4 antibody;Kaptin antibody;Kptn antibody;KPTN protein antibody;KPTN_HUMAN antibody

SUBCELLULAR LOCATION

Lysosome membrane, lamellipodium, stereocilium.

FUNCTION

As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose. Mutations in this gene result in an autosomal recessive form of intellectual disability. Alternatively spliced transcript variants have been found for this gene.