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FLASH GENE
Symbol PNN contributors: mct - updated : 26-01-2013
HGNC name pinin, desmosome associated protein
HGNC id 9162
Location 14q21.1      Physical location : 39.644.386 - 39.652.421
Synonym name
  • 140 kDa nuclear and cell adhesion-related phosphoprotein
  • melanoma metastasis clone A protein
  • desmosome-associated protein
  • SR-like protein
  • nuclear protein SDK3
  • neutrophil protein
  • Synonym symbol(s) SDK3, DRS, MEMA, pinin, DRSP
    DNA
    TYPE functioning gene
    STRUCTURE 8.04 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC387986 14 LOC387986 SSTR1 14q13.3 somatostatin receptor 1 C14orf27 14q13.3 chromosome 14 open reading frame 27 LOC390470 14 similar to KRT8 protein SEC23A 14q13.2 Sec23 homolog A (S. cerevisiae) PPIAP4 14 peptidylprolyl isomerase A (cyclophilin A) pseudogene 4 SIP1 14q13-q21 survival of motor neuron protein interacting protein 1 TRAPPC6B 14q13.3 trafficking protein particle complex 6B LOC390471 14 similar to 60S ribosomal protein L7a (Surfeit locus protein 3) (PLA-X polypeptide) PNN 14q13 pinin, desmosome associated protein LOC283548 14q13.3 similar to HGRG8 protein MIA2 14q13.2 melanoma inhibitory activity 2 MGEA6 14q13.3 meningioma expressed antigen 6 (coiled-coil proline-rich) COILP 14q13.1--q13.3 coilin pseudogene FBXO33 14 F-box only protein 33
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 3606 81.5 717 - 2000 10645008
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
     stomach   moderately
    Lymphoid/Immunethymus   highly
    Nervousbrain   highly Mus musculus
    Urinarybladder   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  moderately
    Nervouscentral    Mus musculus
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Mus musculus
    Nervousoligodendrocyte Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text moderately in embryonic tissue
    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