AP4E1
Identifiers
Aliases	AP4E1, CPSQ4, SPG51, STUT1, adaptor related protein complex 4 epsilon 1 subunit, adaptor related protein complex 4 subunit epsilon 1
External IDs	OMIM: 607244 MGI: 1336993 HomoloGene: 22397 GeneCards: AP4E1
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q21.2 Start 50,908,672 bp[1] End 51,005,895 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 F1|2 61.76 cM Start 126,850,637 bp[2] End 126,909,829 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in palpebral conjunctiva human penis amniotic fluid Achilles tendon tibia gastrocnemius muscle saphenous vein monocyte body of tongue vulva Top expressed in hand cumulus cell foot triceps brachii muscle left lung lobe vastus lateralis muscle vas deferens soleus muscle tibialis anterior muscle otolith organ More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component membrane coat Golgi apparatus trans-Golgi network membrane endosome lumen membrane AP-4 adaptor complex Biological process protein transport intracellular protein transport vesicle-mediated transport protein targeting protein localization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23431 108011 Ensembl ENSG00000081014 ENSMUSG00000001998 UniProt Q9UPM8 Q80V94 RefSeq (mRNA) NM_001252127 NM_007347 NM_175550 RefSeq (protein) NP_001239056 NP_031373 NP_780759 Location (UCSC) Chr 15: 50.91 – 51.01 Mb Chr 2: 126.85 – 126.91 Mb PubMed search [3] [4]
Wikidata
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AP-4 complex subunit epsilon-1 is a protein that in humans is encoded by the AP4E1 gene.^[5]

Function

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]

Clinical relevance

It is currently hypothesized that AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.^[6]