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Aliases for PNN Gene

Aliases for PNN Gene

  • Pinin, Desmosome Associated Protein 2 3 5
  • 140 KDa Nuclear And Cell Adhesion-Related Phosphoprotein 3 4
  • Melanoma Metastasis Clone A Protein 3 4
  • Desmosome-Associated Protein 3 4
  • Domain-Rich Serine Protein 3 4
  • Nuclear Protein SDK3 3 4
  • SR-Like Protein 3 4
  • MemA 3 4
  • DRSP 3 4
  • DRS 3 4
  • Neutrophil Protein 3
  • DRS Protein 4
  • SDK3 3

External Ids for PNN Gene

Previous GeneCards Identifiers for PNN Gene

  • GC14P037025
  • GC14P033501
  • GC14P037634
  • GC14P038714
  • GC14P039644
  • GC14P019758

Summaries for PNN Gene

GeneCards Summary for PNN Gene

PNN (Pinin, Desmosome Associated Protein) is a Protein Coding gene. Diseases associated with PNN include melanoma metastasis and premenstrual tension. Among its related pathways are RNA transport and mRNA surveillance pathway. GO annotations related to this gene include poly(A) RNA binding and structural molecule activity.

UniProtKB/Swiss-Prot for PNN Gene

  • Transcriptional activator binding to the E-box 1 core sequence of the E-cadherin promoter gene; the core-binding sequence is 5CAGGTG-3. Capable of reversing CTBP1-mediated transcription repression. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Participates in the regulation of alternative pre-mRNA splicing. Associates to spliced mRNA within 60 nt upstream of the 5-splice sites. Component of the PSAP complex which binds RNA in a sequence-independent manner and is proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets. Involved in the establishment and maintenance of epithelia cell-cell adhesion. Potential tumor suppressor for renal cell carcinoma.

Gene Wiki entry for PNN Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PNN Gene

Genomics for PNN Gene

Regulatory Elements for PNN Gene

Promoters for PNN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PNN on UCSC Golden Path with GeneCards custom track

Genomic Location for PNN Gene

Chromosome:
14
Start:
39,175,183 bp from pter
End:
39,183,218 bp from pter
Size:
8,036 bases
Orientation:
Plus strand

Genomic View for PNN Gene

Genes around PNN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PNN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PNN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNN Gene

Proteins for PNN Gene

  • Protein details for PNN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H307-PININ_HUMAN
    Recommended name:
    Pinin
    Protein Accession:
    Q9H307
    Secondary Accessions:
    • B4DZX8
    • O60899
    • Q53EM7
    • Q6P5X4
    • Q7KYL1
    • Q99738
    • Q9UHZ9
    • Q9UQR9

    Protein attributes for PNN Gene

    Size:
    717 amino acids
    Molecular mass:
    81614 Da
    Quaternary structure:
    • Found in a mRNA splicing-dependent exon junction complex (EJC). Found in a complex with SR proteins. Found in a mRNP complex with RNPS1. Component of the PSAP complex consisting of RNPS1, SAP18 and PNN. Interacts with PNISR, CTBP1, CTBP2, KRT8, KRT18, KRT19, PS1D/PNO40, PPIG, RNPS1, SFRS4 and SRRM2. Identified in the spliceosome C complex.

    Alternative splice isoforms for PNN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PNN Gene

Proteomics data for PNN Gene at MOPED

Post-translational modifications for PNN Gene

  • Ubiquitination at Lys 137
  • Modification sites at PhosphoSitePlus

Other Protein References for PNN Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for PNN Gene

Domains & Families for PNN Gene

Protein Domains for PNN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PNN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H307

UniProtKB/Swiss-Prot:

PININ_HUMAN :
  • Belongs to the pinin family.
Family:
  • Belongs to the pinin family.
genes like me logo Genes that share domains with PNN: view

No data available for Gene Families for PNN Gene

Function for PNN Gene

Molecular function for PNN Gene

UniProtKB/Swiss-Prot Function:
Transcriptional activator binding to the E-box 1 core sequence of the E-cadherin promoter gene; the core-binding sequence is 5CAGGTG-3. Capable of reversing CTBP1-mediated transcription repression. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Participates in the regulation of alternative pre-mRNA splicing. Associates to spliced mRNA within 60 nt upstream of the 5-splice sites. Component of the PSAP complex which binds RNA in a sequence-independent manner and is proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets. Involved in the establishment and maintenance of epithelia cell-cell adhesion. Potential tumor suppressor for renal cell carcinoma.
genes like me logo Genes that share phenotypes with PNN: view

Animal Models for PNN Gene

MGI Knock Outs for PNN:
  • Pnn tm1.2Sps
  • Pnn tm1.1(KOMP)Vlcg

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PNN Gene

Localization for PNN Gene

Subcellular locations from UniProtKB/Swiss-Prot for PNN Gene

Nucleus speckle. Cell junction, desmosome. Note=Cell-cell contact area, predominantly desmosome of intercellular adherens junction. Not a nucleocytoplasmic shuttling protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PNN Gene COMPARTMENTS Subcellular localization image for PNN gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 5
cytosol 1
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PNN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005886 plasma membrane TAS 8922384
GO:0030057 desmosome IEA --
GO:0035145 colocalizes_with exon-exon junction complex IDA 16314458
GO:0071013 catalytic step 2 spliceosome IDA 11991638
genes like me logo Genes that share ontologies with PNN: view

Pathways & Interactions for PNN Gene

genes like me logo Genes that share pathways with PNN: view

Pathways by source for PNN Gene

2 KEGG pathways for PNN Gene

Gene Ontology (GO) - Biological Process for PNN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome IC 11991638
genes like me logo Genes that share ontologies with PNN: view

No data available for SIGNOR curated interactions for PNN Gene

Drugs & Compounds for PNN Gene

(2) Drugs for PNN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for PNN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PNN: view

Transcripts for PNN Gene

Unigene Clusters for PNN Gene

Pinin, desmosome associated protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PNN Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9
SP1: -
SP2: -
SP3: -
SP4: - -
SP5: - -
SP6:
SP7:

Relevant External Links for PNN Gene

GeneLoc Exon Structure for
PNN
ECgene alternative splicing isoforms for
PNN

Expression for PNN Gene

mRNA expression in normal human tissues for PNN Gene

Protein differential expression in normal tissues from HIPED for PNN Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.0) and Blymphocyte (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PNN Gene



SOURCE GeneReport for Unigene cluster for PNN Gene Hs.409965

mRNA Expression by UniProt/SwissProt for PNN Gene

Q9H307-PININ_HUMAN
Tissue specificity: Expressed in placenta, lung, liver, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, heart, epidermis, esophagus, brain and smooth and skeletal muscle. Expressed strongly in melanoma metastasis lesions and advanced primary tumors.
genes like me logo Genes that share expression patterns with PNN: view

Protein tissue co-expression partners for PNN Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PNN Gene

Orthologs for PNN Gene

This gene was present in the common ancestor of animals.

Orthologs for PNN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PNN 36
  • 99 (a)
OneToOne
PNN 35
  • 99.35 (n)
  • 99.3 (a)
cow
(Bos Taurus)
Mammalia PNN 35
  • 93.39 (n)
  • 93.85 (a)
PNN 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PNN 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pnn 16
Pnn 36
  • 92 (a)
OneToOne
Pnn 35
  • 90.56 (n)
  • 94 (a)
oppossum
(Monodelphis domestica)
Mammalia PNN 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PNN 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pnn 35
  • 90.41 (n)
  • 92.74 (a)
chicken
(Gallus gallus)
Aves PNN 35
  • 75.35 (n)
  • 77.15 (a)
PNN 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PNN 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7384 35
zebrafish
(Danio rerio)
Actinopterygii pnn 36
  • 58 (a)
OneToOne
wufb24d03 35
fruit fly
(Drosophila melanogaster)
Insecta Pnn 36
  • 30 (a)
OneToOne
Species with no ortholog for PNN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PNN Gene

ENSEMBL:
Gene Tree for PNN (if available)
TreeFam:
Gene Tree for PNN (if available)

Paralogs for PNN Gene

No data available for Paralogs for PNN Gene

Variants for PNN Gene

Sequence variations from dbSNP and Humsavar for PNN Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1050136 -- 39,181,620(+) AGGGG(C/T)CGGGG reference, synonymous-codon
rs1065608 -- 39,177,880(+) CTTCA(A/G)AAATT reference, synonymous-codon
rs1065609 -- 39,179,129(+) GAAGT(G/T)CAGGC reference, synonymous-codon
rs1065610 -- 39,179,219(+) CTTTT(A/G)GAACA reference, synonymous-codon
rs1065611 -- 39,180,618(+) GAACA(C/G)AAGGC reference, missense

Variation tolerance for PNN Gene

Residual Variation Intolerance Score: 22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.08; 75.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PNN Gene

HapMap Linkage Disequilibrium report
PNN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PNN Gene

Disorders for PNN Gene

MalaCards: The human disease database

(3) MalaCards diseases for PNN Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
melanoma metastasis
premenstrual tension
  • premenstrual syndrome
epileptic encephalopathy, childhood-onset
  • childhood onset epileptic encephalopathy
- elite association - COSMIC cancer census association via MalaCards
Search PNN in MalaCards View complete list of genes associated with diseases

Relevant External Links for PNN

Genetic Association Database (GAD)
PNN
Human Genome Epidemiology (HuGE) Navigator
PNN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PNN
genes like me logo Genes that share disorders with PNN: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PNN Gene

Publications for PNN Gene

  1. Characterization of pinin, a novel protein associated with the desmosome-intermediate filament complex. (PMID: 8922384) Ouyang P. … Sugrue S.P. (J. Cell Biol. 1996) 2 3 4 23 67
  2. Corepressor CtBP and nuclear speckle protein Pnn/DRS differentially modulate transcription and splicing of the E-cadherin gene. (PMID: 18086895) Alpatov R. … Sugrue S.P. (Mol. Cell. Biol. 2008) 3 23
  3. Loss of Pnn expression attenuates expression levels of SR family splicing factors and modulates alternative pre-mRNA splicing in vivo. (PMID: 16430868) Chiu Y. … Ouyang P. (Biochem. Biophys. Res. Commun. 2006) 3 23
  4. Reduction of Pnn by RNAi induces loss of cell-cell adhesion between human corneal epithelial cells. (PMID: 15735603) Joo J.-H. … Sugrue S.P. (Mol. Vis. 2005) 3 23
  5. Human RNPS1 and its associated factors: a versatile alternative pre- mRNA splicing regulator in vivo. (PMID: 14729963) Sakashita E. … Mayeda A. (Mol. Cell. Biol. 2004) 3 23

Products for PNN Gene

Sources for PNN Gene

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