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Ppl Gene Detail
Summary
  • Symbol
    Ppl
  • Name
    periplakin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1194898
    NCBI Gene: 19041
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:4904155-4950285 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 2.50 cM, cytoband A-B1
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1122 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1194898
 protein coding gene Chr16:4904155-4950345 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022484
 protein coding gene Chr16:1619053-1665956 (-)
A/J MGP_AJ_G0022446
 protein coding gene Chr16:1421868-1471908 (-)
AKR/J MGP_AKRJ_G0022423
 protein coding gene Chr16:1619402-1665239 (-)
BALB/cJ MGP_BALBcJ_G0022451
 protein coding gene Chr16:1574292-1624511 (-)
C3H/HeJ MGP_C3HHeJ_G0022218
 protein coding gene Chr16:1642158-1691336 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022900
 protein coding gene Chr16:1701893-1751573 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020421
 protein coding gene Chr16:1356062-1404819 (-)
CAST/EiJ MGP_CASTEiJ_G0021744
 protein coding gene Chr16:1646481-1695624 (-)
CBA/J MGP_CBAJ_G0022187
 protein coding gene Chr16:1799609-1850742 (-)
DBA/2J MGP_DBA2J_G0022318
 protein coding gene Chr16:1521505-1568088 (-)
FVB/NJ MGP_FVBNJ_G0022293
 protein coding gene Chr16:1517971-1567310 (-)
LP/J MGP_LPJ_G0022386
 protein coding gene Chr16:1611350-1657169 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022315
 protein coding gene Chr16:1641415-1690662 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022912
 protein coding gene Chr16:1589607-1635440 (-)
PWK/PhJ MGP_PWKPhJ_G0021484
 protein coding gene Chr16:1599976-1655589 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021315
 protein coding gene Chr16:1680369-1731736 (-)
WSB/EiJ MGP_WSBEiJ_G0021793
 protein coding gene Chr16:1616264-1667574 (-)



Homology
more
  • Human Ortholog
    PPL, periplakin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PPL, periplakin
  • Links
    NCBI Gene ID: 5493
    neXtProt AC: NX_O60437
    UniProt: O60437

  • Chr Location
    16p13.3; chr16:4882507-4960741 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 2 alleles in 2 genetic backgrounds
    14 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.
Homozygous null mice are fertile and grossly normal with no apparent skin abnormalities.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    20
  • 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
    794
  • Tissues
    19
  • cDNA Data
    30
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000039457 Ensembl Gene Model | MGI Sequence Detail 46131 C57BL/6J ±  kb
    transcript ENSMUST00000035672 Ensembl | MGI Sequence Detail 6217 Not Applicable  
    polypeptide ENSMUSP00000039360 Ensembl | MGI Sequence Detail 1754 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 38
      Genomic 3
      cDNA 30
      Primer pair 3
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2146664
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 7
      Gene Ontology 10
      Phenotypes 14
    • Earliest
      J:45028 Ruhrberg C, et al., Periplakin, a novel component of cornified envelopes and desmosomes that belongs to the plakin family and forms complexes with envoplakin. J Cell Biol. 1997 Dec 29;139(7):1835-49
    • 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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory