AP4E1, Official Symbol AP4E1provided by HGNC Official Full Name adaptor related protein complex 4 subunit epsilon 1provided by HGNC Primary source HGNC:HGNC:573 See related Ensembl:ENSG00000081014 MIM:607244; AllianceGenome:HGNC:573 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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 See more Orthologs mouse all