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Ppl periplakin [ Mus musculus (house mouse) ]

Gene ID: 19041, updated on 12-May-2024

Summary

Official Symbol
Pplprovided by MGI
Official Full Name
periplakinprovided by MGI
Primary source
MGI:MGI:1194898
See related
Ensembl:ENSMUSG00000039457 AllianceGenome:MGI:1194898
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Predicted to enable structural molecule activity. Predicted to be involved in intermediate filament cytoskeleton organization and wound healing. Predicted to act upstream of or within keratinization. Located in cytoplasm and plasma membrane. Is expressed in several structures, including alimentary system; lower urinary tract; naris; skin; and trachea. Orthologous to human PPL (periplakin). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in lung adult (RPKM 11.5), bladder adult (RPKM 10.7) and 12 other tissues See more
Orthologs
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Genomic context

See Ppl in Genome Data Viewer
Location:
16 A1; 16 2.5 cM
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (4904155..4950345, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (5086291..5132481, complement)

Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene glyoxylate reductase 1 homolog (Arabidopsis) Neighboring gene STARR-positive B cell enhancer ABC_E1180 Neighboring gene ubinuclein 1 Neighboring gene predicted gene, 23483 Neighboring gene transmembrane protein 126A pseudogene Neighboring gene SEC14-like lipid binding 5 Neighboring gene N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (3)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural molecule activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
involved_in intermediate filament cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within keratinization IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within regulation of antibacterial peptide production IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in wound healing IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
 
is_active_in cornified envelope IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in extrinsic component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
colocalizes_with intermediate filament IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
periplakin
Names
195kDa protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_008909.2NP_032935.2  periplakin

    See identical proteins and their annotated locations for NP_032935.2

    Status: VALIDATED

    Source sequence(s)
    AC163723, AF126834, AK142562, AW553870, CJ056283
    Consensus CDS
    CCDS27932.1
    UniProtKB/Swiss-Prot
    O70231, Q9CUT1, Q9JLZ7, Q9R269
    UniProtKB/TrEMBL
    G5E898
    Related
    ENSMUSP00000039360.4, ENSMUST00000035672.5
    Conserved Domains (5) summary
    smart00250
    Location:16551683
    PLEC; Plectin repeat
    COG3352
    Location:15091602
    FlaC; Archaellum component FlaC [Cell motility]
    cd00176
    Location:213387
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:9431638
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl19219
    Location:903993
    DUF342; Protein of unknown function (DUF342)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000082.7 Reference GRCm39 C57BL/6J

    Range
    4904155..4950345 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)