AP4E1 adaptor related protein complex 4 subunit epsilon 1 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 23431)
Source: NCBI Gene (ID 23431)
Symbol: AP4E1
Full name: adaptor related protein complex 4 subunit epsilon 1
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: CPSQ4; SPG51; STUT1
Summary: 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]
Expression: Ubiquitous expression in lymph node (RPKM 2.9), testis (RPKM 2.9) and 25 other tissues
Orthologs: mouse
Gene size: 98404bp
Exon count: 24