AP1S1

Description

The AP1S1 (adaptor related protein complex 1 subunit sigma 1) is a protein-coding gene located on chromosome 7.

AP-1 complex subunit sigma-1A, encoded by the AP1S1 gene in humans, is a protein that forms part of the clathrin coat assembly complex. This complex is crucial for linking clathrin to receptors within coated vesicles involved in endocytosis and Golgi processing. AP1S1, along with beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, constitute the AP-1 assembly protein complex located at the Golgi vesicle. The gene exhibits two alternatively spliced transcript variants encoding distinct isoforms. Mutations in AP1S1 have been associated with the rare familial MEDNIK syndrome. AP1S1 interacts with AP1G1 and RAB10.

AP1S1 is a subunit of the clathrin-associated adaptor protein complex 1 (AP-1), which plays a crucial role in sorting proteins within the late-Golgi/trans-Golgi network (TGN) and/or endosomes. AP complexes facilitate the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.

AP1S1 is also known as AP19, CLAPS1, EKV3, MEDNIK, SIGMA1A.

Associated Diseases

• Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma
• MEDNIK syndrome