AP4E1
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 51, autosomal recessive
SPG51
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG51 is a non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest motor and posture impairments often associated with epilepsy and disturbances of cognition, behavior, sensation, and communication.
None
The disease is caused by variants affecting the gene represented in this entry.
Stuttering, familial persistent 1
STUT1
A familial form of stuttering, a disturbance in the normal fluency and time patterning of speech, characterized by frequent repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks. STUT1 inheritance is autosomal dominant.
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 epsilon-1, AP-4 adaptor complex subunit epsilon, Adaptor-related protein complex 4 subunit epsilon-1, Epsilon subunit of AP-4, Epsilon-adaptin, AP4E1