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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
  • Gene Overview
    MyGene.info: AP4E1
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:127008717-127067909 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 61.76 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    625 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1336993
protein coding gene Chr2:127008679-127069814 (.)
129S1/SvImJ MGP_129S1SvImJ_G0026447
protein coding gene Chr2:130253546-130320046 (+)
A/J MGP_AJ_G0026411
protein coding gene Chr2:124987239-125046422 (+)
AKR/J MGP_AKRJ_G0026386
protein coding gene Chr2:128549249-128611763 (+)
BALB/cJ MGP_BALBcJ_G0026423
protein coding gene Chr2:125253573-125321158 (+)
C3H/HeJ MGP_C3HHeJ_G0026166
protein coding gene Chr2:129065118-129126432 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026868
protein coding gene Chr2:134371716-134431262 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024245
protein coding gene Chr2:119690543-119749157 (+)
CAST/EiJ MGP_CASTEiJ_G0025627
protein coding gene Chr2:129272477-129335097 (+)
CBA/J MGP_CBAJ_G0026146
protein coding gene Chr2:139325030-139392792 (+)
DBA/2J MGP_DBA2J_G0026280
protein coding gene Chr2:124385361-124444483 (+)
FVB/NJ MGP_FVBNJ_G0026244
protein coding gene Chr2:123045086-123107944 (+)
LP/J MGP_LPJ_G0026385
protein coding gene Chr2:130511810-130572445 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026264
protein coding gene Chr2:143376640-143443745 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026923
protein coding gene Chr2:128578779-128642345 (+)
PWK/PhJ MGP_PWKPhJ_G0025363
protein coding gene Chr2:123931591-123991010 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025165
protein coding gene Chr2:127648478-127707352 (+)
WSB/EiJ MGP_WSBEiJ_G0025701
protein coding gene Chr2:129472097-129532975 (+)



Homology
more
  • Human Ortholog
    AP4E1, adaptor related protein complex 4 subunit epsilon 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    AP4E1, adaptor related protein complex 4 subunit epsilon 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CPSQ4, SPG51, STUT1
  • Links
    NCBI Gene ID: 23431
    neXtProt AC: NX_Q9UPM8
    UniProt: Q9UPM8

  • Chr Location
    15q21.2; chr15:50908569-51005900 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with human AP4E1 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    54 phenotypes from 2 alleles in 8 genetic backgrounds
    20 phenotype references
Phenotype Overview

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

Click cells to view annotations.
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000001998 Ensembl Gene Model | MGI Sequence Detail 59193 C57BL/6J ±  kb
    transcript ENSMUST00000002063 Ensembl | MGI Sequence Detail 4600 Not Applicable  
    polypeptide ENSMUSP00000002063 Ensembl | MGI Sequence Detail 1122 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 10

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:1916807, MGI:2139249, MGI:2442701
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 1
      Gene Ontology 5
      Phenotypes 20
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:261975 De Pace R, et al., Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome. PLoS Genet. 2018 Apr;14(4):e1007363

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory