AP1S1
Function
Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.
Involvement in disease
MEDNIK syndrome
MEDNIK
A disorder characterized by erythematous skin lesions and hyperkeratosis, severe psychomotor retardation, peripheral neuropathy, sensorineural hearing loss, together with elevated very-long-chain fatty acids and severe congenital diarrhea.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the adaptor complexes small subunit family.
Tissue Specificity
Widely expressed.
Cellular localization
- Golgi apparatus
- Cytoplasmic vesicle membrane
- Peripheral membrane protein
- Cytoplasmic side
- Membrane
- Clathrin-coated pit
- Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.
Alternative names
AP19, CLAPS1, AP1S1, AP-1 complex subunit sigma-1A, Adaptor protein complex AP-1 subunit sigma-1A, Adaptor-related protein complex 1 subunit sigma-1A, Clathrin assembly protein complex 1 sigma-1A small chain, Clathrin coat assembly protein AP19, Golgi adaptor HA1/AP1 adaptin sigma-1A subunit, HA1 19 kDa subunit, Sigma 1a subunit of AP-1 clathrin, Sigma-adaptin 1A, Sigma1A-adaptin