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Aliases for AP4E1 Gene

Aliases for AP4E1 Gene

  • Adaptor Related Protein Complex 4 Epsilon 1 Subunit 2 3 5
  • Adaptor-Related Protein Complex 4 Subunit Epsilon-1 3 4
  • AP-4 Adaptor Complex Subunit Epsilon 3 4
  • Epsilon-Adaptin 3 4
  • Adaptor-Related Protein Complex 4, Epsilon 1 Subunit 2
  • Adaptor-Related Protein Complex AP-4 Epsilon 3
  • AP-4 Complex Subunit Epsilon-1 3
  • Epsilon Subunit Of AP-4 4
  • CPSQ4 3
  • SPG51 3
  • STUT1 3

External Ids for AP4E1 Gene

Previous GeneCards Identifiers for AP4E1 Gene

  • GC15P046758
  • GC15P044246
  • GC15P048780
  • GC15P048917
  • GC15P048988
  • GC15P051200
  • GC15P028030

Summaries for AP4E1 Gene

Entrez Gene Summary for AP4E1 Gene

  • 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]

GeneCards Summary for AP4E1 Gene

AP4E1 (Adaptor Related Protein Complex 4 Epsilon 1 Subunit) is a Protein Coding gene. Diseases associated with AP4E1 include Spastic Paraplegia 51, Autosomal Recessive and Spastic Paraplegia 51. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. GO annotations related to this gene include binding and structural molecule activity. An important paralog of this gene is AP1G1.

UniProtKB/Swiss-Prot for AP4E1 Gene

  • Subunit of novel type of clathrin- or non-clathrin-associated protein coat involved in targeting proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system.

Gene Wiki entry for AP4E1 Gene

Additional gene information for AP4E1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP4E1 Gene

Genomics for AP4E1 Gene

Regulatory Elements for AP4E1 Gene

Enhancers for AP4E1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H050878 1.8 FANTOM5 Ensembl ENCODE dbSUPER 23.3 -28.3 -28333 3.4 HDAC1 TBP PKNOX1 BATF ZNF766 ATF7 ETV6 RUNX3 CREM IKZF2 AP4E1 TRPM7 RN7SL354P ENSG00000259306 SPPL2A USP8 GC15P050883 PIR42507
GH15H050906 1.4 ENCODE dbSUPER 22 +0.7 654 6.2 PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 AP4E1 ENSG00000259715 GABPB1-AS1 TRPM7 GABPB1-IT1 ENSG00000259298 USP8 ENSG00000259618 RPS20P34 DCAF13P3
GH15H051075 1.7 FANTOM5 Ensembl ENCODE dbSUPER 17.6 +168.5 168484 2.4 TBL1XR1 RB1 MAX EBF1 E2F1 POLR2A EED ATF7 RUNX3 CREM AP4E1 SPPL2A DCAF13P3 TRPM7 GC15P051080 PIR55486 PIR55928
GH15H050763 1.4 ENCODE dbSUPER 17.9 -143.4 -143416 3.3 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1 ENSG00000259715 GABPB1-AS1 USP8 TRPM7 AP4E1 SPPL2A GABPB1-IT1 ENSG00000259298 ENSG00000259618 RPS20P34
GH15H050883 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12 -23.6 -23639 2.8 HDGF FOXA2 PKNOX1 ARID4B SIN3A YBX1 DMAP1 YY1 CBX5 ZNF143 SPPL2A AP4E1 ENSG00000259306 USP8 ENSG00000259715 TRPM7 GC15P050883 GC15P050885
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AP4E1 on UCSC Golden Path with GeneCards custom track

Promoters for AP4E1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for AP4E1 Gene

Genomic Locations for AP4E1 Gene
97,276 bases
Plus strand

Genomic View for AP4E1 Gene

Genes around AP4E1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP4E1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AP4E1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP4E1 Gene

Proteins for AP4E1 Gene

  • Protein details for AP4E1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    AP-4 complex subunit epsilon-1
    Protein Accession:
    Secondary Accessions:
    • A0AVD6
    • A1L4A9
    • A6NNX7
    • H0YKX4
    • Q68D31
    • Q9Y588

    Protein attributes for AP4E1 Gene

    1137 amino acids
    Molecular mass:
    127287 Da
    Quaternary structure:
    • Adaptor protein complex 4 (AP-4) is a heterotetramer composed of two large adaptins (epsilon-type subunit AP4E1 and beta-type subunit AP4B1), a medium adaptin (mu-type subunit AP4M1) and a small adaptin (sigma-type AP4S1).

    Alternative splice isoforms for AP4E1 Gene


neXtProt entry for AP4E1 Gene

Post-translational modifications for AP4E1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AP4E1 Gene

Domains & Families for AP4E1 Gene

Gene Families for AP4E1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for AP4E1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the adaptor complexes large subunit family.
  • Belongs to the adaptor complexes large subunit family.
genes like me logo Genes that share domains with AP4E1: view

Function for AP4E1 Gene

Molecular function for AP4E1 Gene

UniProtKB/Swiss-Prot Function:
Subunit of novel type of clathrin- or non-clathrin-associated protein coat involved in targeting proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system.

Phenotypes From GWAS Catalog for AP4E1 Gene

genes like me logo Genes that share phenotypes with AP4E1: view

Human Phenotype Ontology for AP4E1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AP4E1 Gene

MGI Knock Outs for AP4E1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for AP4E1 Gene

Localization for AP4E1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP4E1 Gene

Golgi apparatus, trans-Golgi network. Membrane, coated pit. Note=Associated with the trans-Golgi network. Found in soma and dendritic shafts of neuronal cells.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AP4E1 gene
Compartment Confidence
golgi apparatus 5
endosome 4
cytosol 3
nucleus 2
plasma membrane 1
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for AP4E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005905 clathrin-coated pit IEA --
GO:0016020 membrane IEA --
GO:0030117 membrane coat IEA --
GO:0030124 AP-4 adaptor complex IEA --
GO:0031904 endosome lumen TAS --
genes like me logo Genes that share ontologies with AP4E1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AP4E1 Gene

Pathways & Interactions for AP4E1 Gene

genes like me logo Genes that share pathways with AP4E1: view

Pathways by source for AP4E1 Gene

Gene Ontology (GO) - Biological Process for AP4E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006886 intracellular protein transport IEA --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with AP4E1: view

No data available for SIGNOR curated interactions for AP4E1 Gene

Drugs & Compounds for AP4E1 Gene

No Compound Related Data Available

Transcripts for AP4E1 Gene

Unigene Clusters for AP4E1 Gene

Adaptor-related protein complex 4, epsilon 1 subunit:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AP4E1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21a · 21b
SP2: -

Relevant External Links for AP4E1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AP4E1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AP4E1 Gene

Protein differential expression in normal tissues from HIPED for AP4E1 Gene

This gene is overexpressed in Kidney (43.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AP4E1 Gene

Protein tissue co-expression partners for AP4E1 Gene

NURSA nuclear receptor signaling pathways regulating expression of AP4E1 Gene:


SOURCE GeneReport for Unigene cluster for AP4E1 Gene:


mRNA Expression by UniProt/SwissProt for AP4E1 Gene:

Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for AP4E1 Gene

  • Heart(4.3)
  • Liver(4.1)
  • Pancreas(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AP4E1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • salivary gland
  • skull
  • tooth
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with AP4E1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for AP4E1 Gene

Orthologs for AP4E1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AP4E1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AP4E1 34 33
  • 99.65 (n)
(Bos Taurus)
Mammalia AP4E1 34 33
  • 91.64 (n)
(Canis familiaris)
Mammalia AP4E1 33 34
  • 91.41 (n)
(Mus musculus)
Mammalia Ap4e1 16 34 33
  • 83.82 (n)
(Rattus norvegicus)
Mammalia Ap4e1 33
  • 83.38 (n)
(Monodelphis domestica)
Mammalia AP4E1 34
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia AP4E1 34
  • 41 (a)
(Gallus gallus)
Aves AP4E1 33 34
  • 72.2 (n)
(Anolis carolinensis)
Reptilia AP4E1 34
  • 85 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ap4e1 33
  • 64.88 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10831 33
(Danio rerio)
Actinopterygii ap4e1 33 34
  • 56.99 (n)
fruit fly
(Drosophila melanogaster)
Insecta AP-1gamma 34
  • 19 (a)
(Caenorhabditis elegans)
Secernentea apg-1 34
  • 19 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APL4 34
  • 17 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G31730 33
  • 48.92 (n)
(Oryza sativa)
Liliopsida Os01g0916200 33
  • 49.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 20 (a)
Species where no ortholog for AP4E1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AP4E1 Gene

Gene Tree for AP4E1 (if available)
Gene Tree for AP4E1 (if available)

Paralogs for AP4E1 Gene

Paralogs for AP4E1 Gene

(2) SIMAP similar genes for AP4E1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with AP4E1: view

Variants for AP4E1 Gene

Sequence variations from dbSNP and Humsavar for AP4E1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs139640763 Stuttering, familial persistent 1 (STUT1) [MIM:184450] 51,002,562(+) TTGCC(A/G)AGTTC nc-transcript-variant, reference, missense
rs141278078 Stuttering, familial persistent 1 (STUT1) [MIM:184450] 50,999,099(+) GTTTG(C/T)CTGTA intron-variant, nc-transcript-variant, reference, missense
rs148499164 Uncertain significance, Stuttering, familial persistent 1 (STUT1) [MIM:184450] 50,929,079(+) TACAA(A/C)ATATT nc-transcript-variant, reference, missense, utr-variant-5-prime
rs200678853 Stuttering, familial persistent 1 (STUT1) [MIM:184450] 50,949,933(+) ACTAG(C/T)GGAAG nc-transcript-variant, reference, missense
rs372479885 Stuttering, familial persistent 1 (STUT1) [MIM:184450] 50,941,475(+) CTATT(C/T)TATTT nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for AP4E1 Gene

Variant ID Type Subtype PubMed ID
nsv9264 CNV loss 18304495
nsv569404 CNV loss 21841781
nsv569403 CNV loss 21841781
nsv569398 CNV loss 21841781
nsv516168 CNV gain 19592680
nsv1047443 CNV gain 25217958
nsv1038778 CNV loss 25217958
esv34532 CNV gain 17911159
esv3375902 CNV insertion 20981092
esv3361389 CNV insertion 20981092
esv3307487 CNV mobile element insertion 20981092
esv2760031 CNV gain 17122850
esv2452631 CNV insertion 19546169
dgv4526n54 CNV gain 21841781

Variation tolerance for AP4E1 Gene

Residual Variation Intolerance Score: 61% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.74; 93.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AP4E1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP4E1 Gene

Disorders for AP4E1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for AP4E1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 51, autosomal recessive
  • cpsq4
spastic paraplegia 51
  • spastic paraplegia 51, autosomal recessive
severe intellectual disability and progressive spastic paraplegia
  • ap4 deficiency syndrome
  • familial persistent stuttering
cerebral palsy
  • infantile cerebral palsy
- elite association - COSMIC cancer census association via MalaCards
Search AP4E1 in MalaCards View complete list of genes associated with diseases


  • Spastic paraplegia 51, autosomal recessive (SPG51) [MIM:613744]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG51 is a non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest motor and posture impairments often associated with epilepsy and disturbances of cognition, behavior, sensation, and communication. {ECO:0000269 PubMed:20972249}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Stuttering, familial persistent 1 (STUT1) [MIM:184450]: A familial form of stuttering, a disturbance in the normal fluency and time patterning of speech, characterized by frequent repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks. STUT1 inheritance is autosomal dominant. {ECO:0000269 PubMed:26544806}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AP4E1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with AP4E1: view

No data available for Genatlas for AP4E1 Gene

Publications for AP4E1 Gene

  1. Characterization of a fourth adaptor-related protein complex. (PMID: 10436028) Hirst J … Robinson MS (Molecular biology of the cell 1999) 2 3 4 60
  2. Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. (PMID: 26544806) Raza MH … Drayna D (American journal of human genetics 2015) 3 4 60
  3. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. (PMID: 21620353) Abou Jamra R … Colleaux L (American journal of human genetics 2011) 2 3 60
  4. Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. (PMID: 20972249) Moreno-De-Luca A … Martin CL (Journal of medical genetics 2011) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for AP4E1 Gene

Sources for AP4E1 Gene

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