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PPL periplakin [ Homo sapiens (human) ]

Gene ID: 5493, updated on 12-Oct-2019

Summary

Official Symbol
PPLprovided by HGNC
Official Full Name
periplakinprovided by HGNC
Primary source
HGNC:HGNC:9273
See related
Ensembl:ENSG00000118898 MIM:602871
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
The protein encoded by this gene is a component of desmosomes and of the epidermal cornified envelope in keratinocytes. The N-terminal domain of this protein interacts with the plasma membrane and its C-terminus interacts with intermediate filaments. Through its rod domain, this protein forms complexes with envoplakin. This protein may serve as a link between the cornified envelope and desmosomes as well as intermediate filaments. AKT1/PKB, a protein kinase mediating a variety of cell growth and survival signaling processes, is reported to interact with this protein, suggesting a possible role for this protein as a localization signal in AKT1-mediated signaling. [provided by RefSeq, Jul 2008]
Expression
Biased expression in esophagus (RPKM 300.0) and skin (RPKM 63.7) See more
Orthologs

Genomic context

See PPL in Genome Data Viewer
Location:
16p13.3
Exon count:
23
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (4882507..4937148, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (4932508..4987136, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene rogdi atypical leucine zipper Neighboring gene glyoxylate reductase 1 homolog Neighboring gene ubinuclein 1 Neighboring gene uncharacterized LOC105371064 Neighboring gene SEC14 like lipid binding 5 Neighboring gene NAGPA antisense RNA 1 Neighboring gene N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
NHGRI GWA Catalog
Genome-wide gene-environment interaction analysis for asbestos exposure in lung cancer susceptibility.
NHGRI GWA Catalog

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Butyrophilin (BTN) family interactions, organism-specific biosystem (from REACTOME)
    Butyrophilin (BTN) family interactions, organism-specific biosystemButyrophilins (BTNs) and butyrophilin like (BTNL) molecules are regulators of immune responses that belong to the immunoglobulin (Ig) superfamily of transmembrane proteins. They are structurally rela...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
    Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Keratinization, organism-specific biosystem (from REACTOME)
    Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0568, MGC134872

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cornification TAS
Traceable Author Statement
more info
 
intermediate filament cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to mechanical stimulus IEP
Inferred from Expression Pattern
more info
PubMed 
wound healing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cornified envelope TAS
Traceable Author Statement
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
desmosome IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
colocalizes_with intermediate filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
periplakin
Names
190 kDa paraneoplastic pemphigus antigen
195 kDa cornified envelope precursor protein

NCBI Reference Sequences (RefSeq)

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_002705.5NP_002696.4  periplakin

    Status: REVIEWED

    Source sequence(s)
    AC027687
    Consensus CDS
    CCDS10526.1
    Related
    ENSP00000340510.2, ENST00000345988.7
    Conserved Domains (3) summary
    smart00250
    Location:16571685
    PLEC; Plectin repeat
    cl02488
    Location:215389
    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; ...
    cl25732
    Location:7961587
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    4882507..4937148 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720902.4XP_006720965.1  periplakin isoform X3

    Conserved Domains (4) summary
    pfam05483
    Location:8021559
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00250
    Location:16701698
    PLEC; Plectin repeat
    cl02488
    Location:228402
    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; ...
    cl19219
    Location:9141008
    DUF342; Protein of unknown function (DUF342)
  2. XM_017023375.2XP_016878864.1  periplakin isoform X2

  3. XM_017023374.2XP_016878863.1  periplakin isoform X1

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