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FLASH GENE
Symbol PNN contributors: mct - updated : 26-01-2013
HGNC name pinin, desmosome associated protein
HGNC id 9162
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • polyserine/RS motif, playing a central but not exclusive role in mediating molecular interactions with identified SR-rich proteins
    • conjugated Other
    mono polymer complex
    HOMOLOGY
    interspecies homolog to rattus Pnn (93.7 pc)
    homolog to murine Pnn (94.1 pc)
    Homologene
    FAMILY
  • pinin family
    • CATEGORY adhesion , regulatory , structural protein , RNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,desmosome
        intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    basic FUNCTION
  • playing a role as transcriptional activator binding to the E-box 1 core sequence of the E-cadherin promoter gene
  • being capable of reversing CTBP1-mediated transcription repression
  • also participating in the regulation of alternative pre-mRNA splicing
  • involved in the establishment and maintenance of epithelia cell-cell adhesion
  • being a potential tumor suppressor for renal cell carcinoma
  • cell-adhesion-related and nuclear protein that has been identified as central in the establishment and maintenance of corneal epithelial cell-cell adhesion
  • PNN and SR-rich proteins may be part of a multiprotein complex within the nucleus and may be involved in pre-mRNA processing
  • function in maintenance of epithelial integrity through altering expression of several key adhesion molecules
  • is essential for tight regulation of Wnt signaling and CDX2 expression during small intestinal development
  • nuclear and desmosome-associated SR-like protein
  • playing multiple roles in cell adhesion, transcriptional regulation, pre-mRNA splicing and mRNA export
  • is potentially essential for the maintenance of subsets of neural crest cells
  • ESRP1 and PNN modulate alternative splicing of a specific subset of target genes, but not general splicing events, in corneal cells to maintain or enhance epithelial characteristics
    • CELLULAR PROCESS cell cycle
    nucleotide, transcription, regulation
    nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS
    text negative regulation of cell cycle
    PATHWAY
    metabolism
    signaling
    a component
  • spliceosome
  • found in a complex with SR proteins
  • found in a mRNP complex with RNPS1
    • INTERACTION
    DNA
  • core-binding sequence 5'CAGGTG-3'
    • RNA
  • associating to spliced mRNA within 60 nt upstream of the 5'-splice sites
    • small molecule
    protein
  • interacting with PNISR, CTBP1, CTBP2, KRT8, KRT18, KRT19, PS1D/PNO40, PPIG, RNPS1, SFRS4 and SRRM2
  • three SR-rich proteins were identified that interact with the C-terminus of PNN: SRSF4 and SRRM2, known components of spliceosome machinery, and PNISR
  • plays a crucial role in small intestinal development by influencing expression of an intestinal homeobox gene, CDX2
  • PNN physically interacts with RNPS1 and SAP18, forming an alternative ternary complex, PSAP
    • cell & other
    REGULATION
    Other phosphorylated upon DNA damage, probably by ATM or ATR
    acetylation
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    greatly reduced in renal cell carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    embryonic lethality of pnn-deficient mice