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Eppk1 Gene Detail
Summary
  • Symbol
    Eppk1
  • Name
    epiplakin 1
  • Synonyms
    EPIPL1, EPPK
  • Feature Type
    protein coding gene
  • IDs
    MGI:2386306
    NCBI Gene: 223650
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:75973337-76004395 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 35.37 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    358 from dbSNP Build 142
  • Strain Annotations
    1
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2386306
 protein coding gene Chr15:75973330-76004395 (-)
129S1/SvImJ no annotation
A/J no annotation
AKR/J no annotation
BALB/cJ no annotation
C3H/HeJ no annotation
C57BL/6NJ no annotation
CAROLI/EiJ no annotation
CAST/EiJ no annotation
CBA/J no annotation
DBA/2J no annotation
FVB/NJ no annotation
LP/J no annotation
NOD/ShiLtJ no annotation
NZO/HlLtJ no annotation
PWK/PhJ no annotation
SPRET/EiJ no annotation
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    EPPK1, epiplakin 1
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EPPK1, epiplakin 1
  • Synonyms
    EPIPL, EPIPL1
  • Links
    NCBI Gene ID: 83481
    neXtProt AC: NX_P58107
    UniProt: P58107

  • Chr Location
    8q24.3; chr8:143857324-143879194 (-)  GRCh38
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 2 alleles in 3 genetic backgrounds
    31 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.
  • All Mutations and Alleles
    9
  • Chemically induced (other)
    3
  • Gene trapped
    2
  • Radiation induced
    2
  • Targeted
    2
  • Genomic Mutations
    5 involving Eppk1
  • Incidental Mutations
    CvDC
  • Find Mice (IMSR)
    39 strains or lines available
Mice homozygous for a null allele exhbit normal skin morphology. Mice homozygous for a reporter knock-in allele exhibit enhanced wound healing associated with increased keratinocyte migration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    44
  • GO References
    10
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
    204
  • Tissues
    48
  • cDNA Data
    14
  • Literature Summary
    5
Sequences &
Gene Models
less
  • All Sequences
    12
  • RefSeq
    2
  • UniProt
    2
Representative SequencesLengthStrain/SpeciesFlank
genomic 223650 NCBI Gene Model | MGI Sequence Detail 31059 C57BL/6J ±  kb
transcript NM_144848 RefSeq | MGI Sequence Detail 20556 C57BL/6  
polypeptide Q8R0W0 UniProt | EBI | MGI Sequence Detail 6548 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 15
    cDNA 14
    Primer pair 1

    Microarray probesets 3
References
more
  • Summaries
    All 53
    Developmental Gene Expression 5
    Diseases 1
    Gene Ontology 10
    Phenotypes 31
  • Earliest
    J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
  • Latest
    J:285676 Suzuki A, et al., Genes and microRNAs associated with mouse cleft palate: A systematic review and bioinformatics analysis. Mech Dev. 2018 Apr;150:21-27
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