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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
  • Alliance
    gene page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:5083234-5101177 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 2.94 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    485 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1333763
 protein coding gene Chr7:5083207-5101178 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031584
 protein coding gene Chr7:2052910-2072806 (+)
A/J MGP_AJ_G0031558
 protein coding gene Chr7:2043662-2062295 (+)
AKR/J MGP_AKRJ_G0031487
 protein coding gene Chr7:2120607-2138539 (+)
BALB/cJ MGP_BALBcJ_G0031566
 protein coding gene Chr7:2087505-2112549 (+)
C3H/HeJ MGP_C3HHeJ_G0031287
 protein coding gene Chr7:2098572-2117325 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032027
 protein coding gene Chr7:2123686-2148487 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029151
 protein coding gene Chr7:1757421-1775155 (+)
CAST/EiJ MGP_CASTEiJ_G0030651
 protein coding gene Chr7:2034902-2055625 (+)
CBA/J MGP_CBAJ_G0031245
 protein coding gene Chr7:2327913-2345776 (+)
DBA/2J MGP_DBA2J_G0031404
 protein coding gene Chr7:2025939-2047933 (+)
FVB/NJ MGP_FVBNJ_G0031356
 protein coding gene Chr7:1968987-1987668 (+)
LP/J MGP_LPJ_G0031489
 protein coding gene Chr7:2142619-2162030 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031395
 protein coding gene Chr7:2280163-2301108 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032057
 protein coding gene Chr7:2024336-2043017 (+)
PWK/PhJ MGP_PWKPhJ_G0030379
 protein coding gene Chr7:2177081-2197707 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030204
 protein coding gene Chr7:2062016-2084568 (+)
WSB/EiJ MGP_WSBEiJ_G0030746
 protein coding gene Chr7:2035015-2054214 (+)



Homology
more
  • Human Ortholog
    EPN1, epsin 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EPN1, epsin 1
  • Links
    NCBI Gene ID: 29924
    neXtProt AC: NX_Q9Y6I3
    UniProt: Q9Y6I3

  • Chr Location
    19q13.42; chr19:55675226-55709858 (+)  GRCh38
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
    13 phenotype references
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
less
  • All GO Annotations
    33
  • GO References
    7
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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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
    708
  • Tissues
    1
  • cDNA Data
    75
  • Literature Summary
    5
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000035203 Ensembl Gene Model | MGI Sequence Detail 17944 C57BL/6J ±  kb
transcript ENSMUST00000208634 Ensembl | MGI Sequence Detail 2127 Not Applicable  
polypeptide ENSMUSP00000146638 Ensembl | MGI Sequence Detail 576 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 77
    Genomic 2
    cDNA 75

    Microarray probesets 3
Other
Accession IDs
less
MGI:2141801
References
more
  • Summaries
    All 41
    Developmental Gene Expression 5
    Gene Ontology 7
    Phenotypes 13
  • 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:312985 Dong Y, et al., Epsins Negatively Regulate Aortic Endothelial Cell Function by Augmenting Inflammatory Signaling. Cells. 2021 Jul 29;10(8)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory