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Aliases for AP4E1 Gene

Aliases for AP4E1 Gene

  • Adaptor Related Protein Complex 4 Epsilon 1 Subunit 2 3
  • Adaptor-Related Protein Complex 4, Epsilon 1 Subunit 2 3
  • Adaptor Related Protein Complex 4, Epsilon 1 Subunit 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 AP-4 Epsilon 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 severe intellectual disability and progressive spastic paraplegia. Among its related pathways are Lysosome and Vesicle-mediated transport. GO annotations related to this gene include binding and structural molecule activity. An important paralog of this gene is AP1G2.

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

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

Genomics for AP4E1 Gene

Regulatory Elements for AP4E1 Gene

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

ENSRs around AP4E1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AP4E1 Gene

Chromosome:
15
Start:
50,908,625 bp from pter
End:
51,005,900 bp from pter
Size:
97,276 bases
Orientation:
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:
    Q9UPM8-AP4E1_HUMAN
    Recommended name:
    AP-4 complex subunit epsilon-1
    Protein Accession:
    Q9UPM8
    Secondary Accessions:
    • A0AVD6
    • A1L4A9
    • A6NNX7
    • H0YKX4
    • Q68D31
    • Q9Y588

    Protein attributes for AP4E1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for AP4E1 Gene

Proteomics data for AP4E1 Gene at MOPED

Post-translational modifications for AP4E1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AP4E1 Gene

No data available for DME Specific Peptides for AP4E1 Gene

Domains & Families for AP4E1 Gene

Suggested Antigen Peptide Sequences for AP4E1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UPM8

UniProtKB/Swiss-Prot:

AP4E1_HUMAN :
  • Belongs to the adaptor complexes large subunit family.
Family:
  • Belongs to the adaptor complexes large subunit family.
genes like me logo Genes that share domains with AP4E1: view

No data available for Gene Families for AP4E1 Gene

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.
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

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

COMPARTMENTS
Jensen Localization Image for AP4E1 Gene COMPARTMENTS Subcellular localization image for AP4E1 gene
Compartment Confidence
endosome 4
golgi apparatus 4
cytosol 3
nucleus 2
extracellular 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for AP4E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031904 endosome lumen TAS --
GO:0032588 trans-Golgi network membrane TAS --
genes like me logo Genes that share ontologies with AP4E1: view

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:0016192 vesicle-mediated transport IEA --
GO:0061024 membrane organization TAS --
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:

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
SP1:
SP2: -

Relevant External Links for AP4E1 Gene

GeneLoc Exon Structure for
AP4E1
ECgene alternative splicing isoforms for
AP4E1

Expression for AP4E1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for AP4E1 Gene



SOURCE GeneReport for Unigene cluster for AP4E1 Gene Hs.413366

mRNA Expression by UniProt/SwissProt for AP4E1 Gene

Q9UPM8-AP4E1_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with AP4E1: view

Protein tissue co-expression partners for AP4E1 Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia AP4E1 35
  • 91.64 (n)
  • 90.77 (a)
AP4E1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP4E1 35
  • 91.41 (n)
  • 91.82 (a)
AP4E1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ap4e1 35
  • 83.82 (n)
  • 81.62 (a)
Ap4e1 16
Ap4e1 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AP4E1 35
  • 99.65 (n)
  • 99.38 (a)
AP4E1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap4e1 35
  • 83.38 (n)
  • 81.58 (a)
oppossum
(Monodelphis domestica)
Mammalia AP4E1 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AP4E1 36
  • 41 (a)
OneToOne
chicken
(Gallus gallus)
Aves AP4E1 35
  • 72.2 (n)
  • 69.96 (a)
AP4E1 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP4E1 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap4e1 35
  • 64.88 (n)
  • 62.89 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10831 35
zebrafish
(Danio rerio)
Actinopterygii ap4e1 35
  • 56.99 (n)
  • 55.61 (a)
ap4e1 36
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta AP-1gamma 36
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea apg-1 36
  • 19 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APL4 36
  • 17 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G31730 35
  • 48.92 (n)
  • 41.1 (a)
rice
(Oryza sativa)
Liliopsida Os01g0916200 35
  • 49.62 (n)
  • 42.35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 20 (a)
OneToMany
Species with no ortholog for AP4E1:
  • 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

ENSEMBL:
Gene Tree for AP4E1 (if available)
TreeFam:
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
rs2306331 - 50,925,164(+) TCCCC(C/T)GCGAA reference, missense, utr-variant-5-prime
rs714784 -- 51,004,210(+) TGACT(C/T)CAGGG utr-variant-3-prime
rs1276614 -- 50,963,115(+) atgca(A/G/T)aaaaa intron-variant
rs1296603 -- 50,923,411(+) ATTGA(A/G)AAAAT intron-variant
rs1299977 -- 50,970,606(+) tattg(A/T)acagt intron-variant

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

Variant ID Type Subtype PubMed ID
nsv516168 CNV Gain 19592680
nsv904214 CNV Gain 21882294
esv2452631 CNV Insertion 19546169
esv271761 CNV Insertion 20981092
esv34532 CNV Gain 17911159
dgv747e1 CNV Complex 17122850
nsv9264 CNV Loss 18304495

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

HapMap Linkage Disequilibrium report
AP4E1
Human Gene Mutation Database (HGMD)
AP4E1

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

Disorders for AP4E1 Gene

MalaCards: The human disease database

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

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

UniProtKB/Swiss-Prot

AP4E1_HUMAN
  • Cerebral palsy, spastic quadriplegic 4 (CPSQ4) [MIM:613744]: 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.

Relevant External Links for AP4E1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AP4E1
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 M.S. (Mol. Biol. Cell 1999) 2 3 4 67
  2. 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. (Am. J. Hum. Genet. 2011) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. (PMID: 26544806) Raza M.H. … Drayna D. (Am. J. Hum. Genet. 2015) 3
  5. 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 C.L. (J. Med. Genet. 2011) 3

Products for AP4E1 Gene

Sources for AP4E1 Gene

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