PNN Gene (Protein Coding)

Pinin, Desmosome Associated Protein

GC14P039175
GIFtS:
35
See more...

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
  • Pinin 3 4
  • DRSP 3 4
  • MemA 2 3
  • DRS 3 4
  • Neutrophil Protein 3
  • DRS Protein 4
  • SDK3 3
  • MEMA 4
  • PNN 5

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 Volkmann Contracture and Melanoma. Among its related pathways are mRNA surveillance pathway and RNA transport. Gene Ontology (GO) annotations related to this gene include structural molecule activity.

UniProtKB/Swiss-Prot Summary for PNN Gene

  • Transcriptional activator binding to the E-box 1 core sequence of the E-cadherin promoter gene; the core-binding sequence is 5'CAGGTG-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

Additional gene information for PNN Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PNN Gene

Genomics for PNN Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PNN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PNN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PNN

Top Transcription factor binding sites by QIAGEN in the PNN gene promoter:
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C
  • STAT3

Genomic Locations for PNN Gene

Genomic Locations for PNN Gene
chr14:39,175,183-39,183,220
(GRCh38/hg38)
Size:
8,038 bases
Orientation:
Plus strand
chr14:39,644,387-39,652,422
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for PNN Gene

Proteins for PNN Gene

Products:

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  2. Protein
  3. Assay

  • 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:
    81628 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.
    SequenceCaution:
    • Sequence=CAA70874.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for PNN Gene

Protein Expression for PNN Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PNN Gene

  • Ubiquitination at Lys137
  • Modification sites at PhosphoSitePlus

Other Protein References for PNN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PNN Gene

Domains & Families for PNN Gene

Gene Families for PNN Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for PNN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PNN Gene

GenScript: Design optimal peptide antigens:
  • SR-like protein (PININ_HUMAN)

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

Function for PNN Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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 5'CAGGTG-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.

Phenotypes From GWAS Catalog for PNN Gene

Gene Ontology (GO) - Molecular Function for PNN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding HDA 22658674
GO:0005198 structural molecule activity NAS 8922384
GO:0005515 protein binding IPI 18794151
genes like me logo Genes that share ontologies with PNN: view
genes like me logo Genes that share phenotypes with PNN: view

Animal Models for PNN Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNN

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PNN gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytoskeleton 4
extracellular 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PNN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005681 spliceosomal complex IEA --
GO:0005882 intermediate filament TAS 10809736
GO:0005886 plasma membrane TAS 8922384
GO:0005911 cell-cell junction TAS,IBA 21873635
genes like me logo Genes that share ontologies with PNN: view

Pathways & Interactions for PNN Gene

PathCards logo

SuperPathways 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
GO:0006397 mRNA processing IEA --
GO:0007155 cell adhesion TAS,IBA 21873635
GO:0008380 RNA splicing IEA --
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

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PNN Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNN

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

Expression for PNN Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PNN Gene

mRNA expression in normal human tissues for PNN Gene
mRNA expression by GTEx for PNN GenemRNA expression by BioGPS 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, MaxQB, and MOPED for PNN Gene



Protein tissue co-expression partners for PNN Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PNN

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.

Evidence on tissue expression from TISSUES for PNN Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Skin(4.6)
  • Blood(4.5)
  • Eye(4.5)
  • Adrenal gland(4.3)
  • Lung(3.2)
  • Kidney(2.9)
  • Intestine(2.8)
  • Muscle(2.7)
  • Heart(2.7)
  • Spleen(2.6)
  • Stomach(2.3)
  • Lymph node(2.1)
  • Bone marrow(2)
  • Bone(2)
genes like me logo Genes that share expression patterns with PNN: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 99.35 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PNN 30 31
  • 93.39 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Pnn 30 17 31
  • 90.56 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pnn 30
  • 90.41 (n)
Dog
(Canis familiaris)
 Mammalia PNN 31
  • 89 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia PNN 31
  • 85 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PNN 31
  • 77 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves PNN 30 31
  • 75.35 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PNN 31
  • 74 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia Str.7384 30
Zebrafish
(Danio rerio)
 Actinopterygii pnn 31
  • 58 (a)
 OneToOne
wufb24d03 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Pnn 31
  • 30 (a)
 OneToOne
Species where no ortholog for PNN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for PNN: view image

Paralogs for PNN Gene

No data available for Paralogs for PNN Gene

Variants for PNN Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PNN Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
768649 Benign: not provided 39,181,581(+) C/T SYNONYMOUS_VARIANT
779157 Benign: not provided 39,176,159(+) C/T INTRON_VARIANT
784530 Benign: not provided 39,181,285(+) G/A MISSENSE_VARIANT
788117 Benign: not provided 39,179,145(+) A/C SYNONYMOUS_VARIANT
rs13021 - p.Ser671Gly

Additional dbSNP identifiers (rs#s) for PNN Gene

Structural Variations from Database of Genomic Variants (DGV) for PNN Gene

Variant ID Type Subtype PubMed ID
nsv1051247 CNV gain 25217958

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)

Additional Variant Information for PNN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PNN

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PNN Gene

Disorders for PNN Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
volkmann contracture
  • volkmann's ischemic contracture
melanoma
  • malignant melanoma
- elite association - COSMIC cancer census association via MalaCards
Search PNN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PNN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 SP (The Journal of cell biology 1996) 2 3 4 23
  2. Reduction of Pnn by RNAi induces loss of cell-cell adhesion between human corneal epithelial cells. (PMID: 15735603) Joo JH … Sugrue SP (Molecular vision 2005) 3 4 23
  3. Nuclear speckle-associated protein Pnn/DRS binds to the transcriptional corepressor CtBP and relieves CtBP-mediated repression of the E-cadherin gene. (PMID: 15542832) Alpatov R … Sugrue SP (Molecular and cellular biology 2004) 3 4 23
  4. Over-expression of SR-cyclophilin, an interaction partner of nuclear pinin, releases SR family splicing factors from nuclear speckles. (PMID: 15358154) Lin CL … Ouyang P (Biochemical and biophysical research communications 2004) 3 4 23
  5. Human RNPS1 and its associated factors: a versatile alternative pre-mRNA splicing regulator in vivo. (PMID: 14729963) Sakashita E … Mayeda A (Molecular and cellular biology 2004) 3 4 23

ExternalLinks

View latest publications for PNN gene in Mastermind

Products for PNN Gene

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