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Ap4e1 Gene Detail
Summary
  • Symbol
    Ap4e1
  • Name
    adaptor-related protein complex AP-4, epsilon 1
  • Synonyms
    2310033A20Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1336993
    NCBI Gene: 108011
Location & Maps
more
  • Sequence Map
    Chr2:127008717-127067909 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      59193 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    AP4E1, adaptor related protein complex 4 epsilon 1 subunit
  • Vertebrate Orthologs
    10
  • Human Ortholog
    AP4E1, adaptor related protein complex 4 epsilon 1 subunit
    Orthology source: HomoloGene
  • Synonyms
    CPSQ4, SPG51
  • Links
    NCBI Gene ID: 23431
    neXtProt AC: NX_Q9UPM8

  • Chr Location
    15q21.2; chr15:50908625-51005900 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human AP4E1 associations

Human Disease Mouse Models
       Spastic Paraplegia 51, Autosomal Recessive; SPG51   OMIM: 613744
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 1 allele in 2 genetic backgrounds
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    13
  • Chemically induced (other)
    1
  • Endonuclease-mediated
    1
  • Gene trapped
    6
  • Radiation induced
    1
  • Targeted
    4
  • Genomic Mutations
    2 involving Ap4e1
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit enlarged lateral ventricles, decreased corpus callosum size, decreased vertical activity, and female anemia.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016016 VEGA Gene Model | MGI Sequence Detail 59193 C57BL/6J ±  kb
transcript OTTMUST00000038164 VEGA | MGI Sequence Detail 4600 Not Applicable  
polypeptide OTTMUSP00000017114 VEGA | MGI Sequence Detail 1122 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    628 from dbSNP Build 137
Protein
Information
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  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000004112 AP-4 complex subunit epsilon-1
  • InterPro Domains
    IPR017109 Adaptor protein complex AP-4, epsilon subunit
    IPR028269 AP-4 complex subunit epsilon-1, C-terminal
    IPR011989 Armadillo-like helical
    IPR016024 Armadillo-type fold
    IPR002553 Clathrin/coatomer adaptor, adaptin-like, N-terminal
Molecular
Reagents
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  • All nucleic 10
    cDNA 9
    Other 1

    Microarray probesets 2
Other
Accession IDs
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MGI:1916807, MGI:2139249, MGI:2442701
References
more
  • Summaries
    All 34
    Gene Ontology 3
    Phenotypes 14
  • Earliest
    J:48443 Odorizzi G, et al., The AP-3 complex: a coat of many colours. Trends Cell Biol. 1998 Jul;8(7):282-8
  • Latest
    J:225710 Tuck E, et al., A gene expression resource generated by genome-wide lacZ profiling in the mouse. Dis Model Mech. 2015 Nov 1;8(11):1467-78

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory