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FLASH GENE
Symbol AP4E1 contributors: mct/shn - updated : 15-03-2013
HGNC name adaptor-related protein complex 4, epsilon 1 subunit
HGNC id 573
Corresponding disease
AP4DS AP-4 deficiency syndrome
SPG51 spastic paraplegia 51
Location 15q21.2      Physical location : 51.200.945 - 51.298.097
Synonym name
  • epsilon-adaptin
  • epsilon subunit of AP-4
  • adaptor-related protein complex AP-4 epsilon
  • Synonym symbol(s) AP-4-EPSILON, DKFZp686L12167, CPSQ4, SPG51
    DNA
    TYPE functioning gene
    STRUCTURE 97.23 kb     21 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC388119 15 similar to Oxr1 protein KIAA0912 15q15.3 KIAA0912 protein CRI1 15q21.1-q21.2 CREBBP/EP300 inhibitory protein 1 LOC390582 15 similar to keratin 8; cytokeratin 8; keratin, type II cytoskeletal 8 KIAA0256 15q15.3 KIAA0256 gene product TRIP15 15q21.2 KIAA0256 gene product LOC390583 15 similar to Protein C6orf66 (HSPC125) (My013 protein) GALK2 15q21.1 galactokinase 2 FLJ32800 15q15.3 hypothetical protein FLJ32800 LOC390584 15 similar to putative intramembrane cleaving protease; presenilin-like protein 2; intramembrane protease 3 FGF7 15q15-q21.1 fibroblast growth factor 7 (keratinocyte growth factor) MDS009 15q15.3 x 009 protein LOC388120 15 hypothetical gene supported by BC013357; NM_016120 ATP8B4 15q15.3 ATPase, Class I, type 8B, member 4 SLC27A2 15q21.2 solute carrier family 27 (fatty acid transporter), member 2 HDC 15q15-q21 histidine decarboxylase GABPB2 15q15.2 GA binding protein transcription factor, beta subunit 2, 47kDa FLJ10038 15q15.3 hypothetical protein FLJ10038 USP8 6p21.3 ubiquitin specific protease 8 TRPM7 15q21 transient receptor potential cation channel, subfamily M, member 7 SPPL2A 15q15.3 putative intramembrane cleaving protease AP4E1 15q15.2 adaptor-related protein complex 4, epsilon 1 subunit LOC388121 15 similar to TNF-induced protein CYP19A1 15q21.1 cytochrome P450, family 19, subfamily A, polypeptide 1 FLJ11181 15q15.3 hypothetical protein FLJ11181 CRG-L2 15q15.3 likely ortholog of mouse cancer related gene - liver 2 RC3 15q15.3 rabconnectin-3 SCG3 15q21 secretogranin III MGC35274 15q21.1 hypothetical protein MGC35274 TMOD2 15q21.1-q21.2 tropomodulin 2 (neuronal) TMOD3 15q21.1-q21.2 tropomodulin 3 (ubiquitous) LOC123169 15q21.1 senescence downregulated leo1-like MAPK6 15q21 mitogen-activated protein kinase 6 BCL2L10 15q21 BCL2-like 10 (apoptosis facilitator) GNB5 15q21 guanine nucleotide binding protein (G protein), beta 5 MYO5C 15q21 myosin VC MYO5A 15q21.1 myosin VA (heavy polypeptide 12, myoxin) EEF1B1 15q15.1-q15.3 eukaryotic translation elongation factor 1 beta 1 ARPP-19 15q15.3 eukaryotic translation elongation factor 1 beta 1 FLJ10980 15q21.1 hypothetical protein FLJ10980 ONECUT1 15q21.1-q21.2 one cut domain, family member 1 LOC388122 15 similar to Laminin receptor 1 LOC390585 15 similar to Elongation factor 1-alpha 1 (EF-1-alpha-1) (Elongation factor 1 A-1) (eEF1A-1) (Elongation factor Tu) (EF-Tu) LOC388123 15 LOC388123
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 splicing 6768 127 1137 - 2001 11707398
    19 splicing 6791 - 1062 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a polyleucine domain
  • mono polymer heteromer , tetramer
    HOMOLOGY
    interspecies ortholog to murine Ap4e1
    Homologene
    FAMILY
  • AP-complex family
  • CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    text
  • localizes to the cytoplasmic face of the trans-Golgi network (TGN)
  • basic FUNCTION
  • involved in the recognition and the sorting of cargo proteins with tyrosin-based motifs from trans-Golgi network to the endosomal-lysosomal system
  • crucial role of AP4-mediated trafficking in brain development and functioning
  • CELLULAR PROCESS protein, post translation, targeting
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heterotetramerized with AP4B1, AP4M1, AP4S1
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds only to ARF1-GTP and requires residues in the switch I and switch II regions of ARF1
  • AP4B1, AP4M1, and AP4S1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AP4DS , SPG51
    Susceptibility to familial persistent stuttering
    Variant & Polymorphism other rare coding variants in AP4E1, implicated in the genesis of familial persistent stuttering
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS