AP-4 complex subunit beta-1
Function
Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable).
Involvement in disease
Spastic paraplegia 47, autosomal recessive
SPG47
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG47 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe intellectual disability with poor or absent speech development.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the adaptor complexes large subunit family.
Tissue Specificity
Widely expressed.
Cellular localization
- Golgi apparatus
- trans-Golgi network membrane
- Peripheral membrane protein
Alternative names
AP-4 complex subunit beta-1, AP-4 adaptor complex subunit beta, Adaptor-related protein complex 4 subunit beta-1, Beta subunit of AP-4, Beta4-adaptin, AP4B1