Protein-coding gene in the species Homo sapiens
AP-4 complex subunit epsilon-1 is a protein that in humans is encoded by the AP4E1 gene .[ 5]
The heterotetrameric adaptor protein (AP) complexes sort integral membrane proteins at various stages of the endocytic and secretory pathways. AP4 is composed of 2 large chains, beta-4 (AP4B1 ) and epsilon-4 (AP4E1; this gene), a medium chain, mu-4 (AP4M1 ), and a small chain, sigma-4 (AP4S1 ).[ 5]
It is currently hypothesized that AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.[ 6]
^ a b c GRCh38: Ensembl release 89: ENSG00000081014 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000001998 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b "Entrez Gene: adaptor-related protein complex 4" .^ Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L (May 2011). "Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature" . Am J Hum Genet . 88 (6): 788–95. doi :10.1016/j.ajhg.2011.04.019 . PMC 3113253 PMID 21620353 . Dell'Angelica EC, Mullins C, Bonifacino JS (1999). "AP-4, a novel protein complex related to clathrin adaptors" . J. Biol. Chem . 274 (11): 7278–85. doi :10.1074/jbc.274.11.7278 PMID 10066790 . Hirst J, Bright NA, Rous B, Robinson MS (1999). "Characterization of a fourth adaptor-related protein complex" . Mol. Biol. Cell . 10 (8): 2787–802. doi :10.1091/mbc.10.8.2787 . PMC 25515 PMID 10436028 . Takatsu H, Futatsumori M, Yoshino K, et al. (2001). "Similar subunit interactions contribute to assembly of clathrin adaptor complexes and COPI complex: analysis using yeast three-hybrid system". Biochem. Biophys. Res. Commun . 284 (4): 1083–9. doi :10.1006/bbrc.2001.5081 . PMID 11409905 . Boehm M, Aguilar RC, Bonifacino JS (2001). "Functional and physical interactions of the adaptor protein complex AP-4 with ADP-ribosylation factors (ARFs)" . EMBO J . 20 (22): 6265–76. doi :10.1093/emboj/20.22.6265 . PMC 125733 PMID 11707398 . 
