Aliases for AP4E1 Gene
External Ids for AP4E1 Gene
Previous GeneCards Identifiers for AP4E1 Gene
This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
GeneCards Summary for AP4E1 Gene
AP4E1 (Adaptor Related Protein Complex 4 Subunit Epsilon 1) is a Protein Coding gene. Diseases associated with AP4E1 include Spastic Paraplegia 51, Autosomal Recessive and Severe Intellectual Disability And Progressive Spastic Paraplegia. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include binding and structural molecule activity. An important paralog of this gene is AP1G1.
UniProtKB/Swiss-Prot for AP4E1 Gene
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).