AP1S2
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
Pettigrew syndrome
PGS
An X-linked syndrome characterized by intellectual disability and additional highly variable features, including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain. Intellectual disability is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
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
DC22, AP1S2, AP-1 complex subunit sigma-2, Adaptor protein complex AP-1 subunit sigma-1B, Adaptor-related protein complex 1 subunit sigma-1B, Clathrin assembly protein complex 1 sigma-1B small chain, Golgi adaptor HA1/AP1 adaptin sigma-1B subunit, Sigma 1B subunit of AP-1 clathrin, Sigma-adaptin 1B, Sigma1B-adaptin