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Eps15l1 Gene Detail
Summary
  • Symbol
    Eps15l1
  • Name
    epidermal growth factor receptor pathway substrate 15-like 1
  • Synonyms
    9830147J04Rik, Eps15R, Eps15-rs
  • Feature Type
    protein coding gene
  • IDs
    MGI:104582
    NCBI Gene: 13859
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:73094843-73175304 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 35.02 cM, cytoband C1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1357 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104582
 protein coding gene Chr8:73094834-73175410 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033780
 protein coding gene Chr8:72824220-72912850 (-)
A/J MGP_AJ_G0033762
 protein coding gene Chr8:69877256-69957338 (-)
AKR/J MGP_AKRJ_G0033689
 protein coding gene Chr8:71941438-72024821 (-)
BALB/cJ MGP_BALBcJ_G0033756
 protein coding gene Chr8:70011807-70095700 (-)
C3H/HeJ MGP_C3HHeJ_G0033465
 protein coding gene Chr8:72574155-72658084 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034276
 protein coding gene Chr8:75584094-75675999 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031217
 protein coding gene Chr8:64396897-64480708 (-)
CAST/EiJ MGP_CASTEiJ_G0032794
 protein coding gene Chr8:71926180-72008399 (-)
CBA/J MGP_CBAJ_G0033444
 protein coding gene Chr8:78290213-78387263 (-)
DBA/2J MGP_DBA2J_G0033598
 protein coding gene Chr8:69619780-69703556 (-)
FVB/NJ MGP_FVBNJ_G0033543
 protein coding gene Chr8:68694967-68781035 (-)
LP/J MGP_LPJ_G0033687
 protein coding gene Chr8:72912141-72998973 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033587
 protein coding gene Chr8:80781093-80869661 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034293
 protein coding gene Chr8:72011266-72098609 (-)
PWK/PhJ MGP_PWKPhJ_G0032500
 protein coding gene Chr8:68878528-68961264 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032337
 protein coding gene Chr8:70933171-71033487 (-)
WSB/EiJ MGP_WSBEiJ_G0032909
 protein coding gene Chr8:72316077-72403221 (-)



Homology
more
  • Human Ortholog
    EPS15L1, epidermal growth factor receptor pathway substrate 15 like 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EPS15L1, epidermal growth factor receptor pathway substrate 15 like 1
  • Synonyms
    EPS15R
  • Links
    NCBI Gene ID: 58513
    neXtProt AC: NX_Q9UBC2
    UniProt: Q9UBC2

  • Chr Location
    19p13.11; chr19:16355225-16472085 (-)  GRCh38
Human Diseases
less
  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    20 phenotypes from 2 alleles in 2 genetic backgrounds
    25 phenotypes from multigenic genotypes
    12 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
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
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit partial early postnatal lethality, respiration and feeding problems, hyporesponsiveness to tactile stimuli, and decreased synaptic vesicle number; surviving mice show a reduced growth rate, alterations in behavioral tests, and premature death.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    16
  • 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
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
    760
  • Tissues
    45
  • cDNA Data
    120
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000006276 Ensembl Gene Model | MGI Sequence Detail 80462 C57BL/6J ±  kb
    transcript ENSMUST00000163643 Ensembl | MGI Sequence Detail 3129 Not Applicable  
    polypeptide ENSMUSP00000129739 Ensembl | MGI Sequence Detail 907 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 120
      cDNA 120

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-26016, MGI:2142589, MGI:2444954
    References
    more
    • Summaries
      All 44
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 7
      Phenotypes 12
    • Earliest
      J:26202 Schumacher C, et al., The SH3 domain of Crk binds specifically to a conserved proline-rich motif in Eps15 and Eps15R. J Biol Chem. 1995 Jun 23;270(25):15341-7
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory