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Epn1 Gene Detail
Summary
  • Symbol
    Epn1
  • Name
    epsin 1
  • Synonyms
    Ibp1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1333763
    NCBI Gene: 13854
  • Gene Overview
    MyGene.info: EPN1
Location & Maps
more
  • Genetic Map
    Chromosome 7, 2.94 cM
  • Mapping Data
    1 experiment
Homology
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  • Human Ortholog
    EPN1, epsin 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    EPN1, epsin 1
    Orthology source: HomoloGene, HGNC
  • Links
    NCBI Gene ID: 29924
    neXtProt AC: NX_Q9Y6I3

  • Chr Location
    19q13.42; chr19:55675195-55695767 (+)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    30 phenotypes from multigenic genotypes
    7 images
    5 phenotype references
  • All Mutations and Alleles
    3
  • Gene trapped
    1
  • Targeted
    2
  • Incidental Mutations
Mice homozygous for a null mutation are viable and fertile with no gross abnormalities. Mice homozygous null for both Epn1 and Epn2 display defects in angiogenic vascular remodeling, impaired somitogenesis and extensive cell death in the nervous tissue, resulting in lethality during organogenesis.
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
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026130 VEGA Gene Model | MGI Sequence Detail 17944 C57BL/6J ±  kb
transcript OTTMUST00000146452 VEGA | MGI Sequence Detail 2127 Not Applicable  
polypeptide OTTMUSP00000076247 VEGA | MGI Sequence Detail 576 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    141 from dbSNP Build 142
Protein
Information
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Molecular
Reagents
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  • All nucleic 76
    Genomic 1
    cDNA 75

    Microarray probesets 3
Other
Accession IDs
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MGI:2141801
References
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  • Summaries
    All 26
    Developmental Gene Expression 2
    Gene Ontology 3
    Phenotypes 5
  • Earliest
    J:51614 Yamabhai M, et al., Intersectin, a novel adaptor protein with two Eps15 homology and five Src homology 3 domains. J Biol Chem. 1998 Nov 20;273(47):31401-7
  • Latest
    J:222828 Tessneer KL, et al., Genetic reduction of vascular endothelial growth factor receptor 2 rescues aberrant angiogenesis caused by epsin deficiency. Arterioscler Thromb Vasc Biol. 2014 Feb;34(2):331-7

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
09/27/2016
MGI 6.05
The Jackson Laboratory