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    PNN pinin, desmosome associated protein [ Homo sapiens ]

    Gene ID: 5411, updated on 12-May-2012
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    Summary

    Official Symbol
    PNNprovided by HGNC
    Official Full Name
    pinin, desmosome associated proteinprovided by HGNC
    Primary source
    HGNC:9162
    See related
    Ensembl:ENSG00000100941; HPRD:04401; MIM:603154; Vega:OTTHUMG00000028821
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DRS; DRSP; SDK3; memA
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    Genomic context

    Location :
    14q21.1
    Sequence :
    Chromosome: 14; NC_000014.8 (39644387..39652422)
    See PNN in Epigenomics, MapViewer

    Chromosome 14 - NC_000014.8Genomic Context describing neighboring genes Neighboring gene gem (nuclear organelle) associated protein 2 Neighboring gene trafficking protein particle complex 6B Neighboring gene ribosomal protein L7a pseudogene 2 Neighboring gene transmembrane protein 92 pseudogene Neighboring gene YTH domain family, member 2 pseudogene 1

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Integrative analysis of the ubiquitin proteome isolated using Tandem Ubiquitin Binding Entities (TUBEs). Lopitz-Otsoa F, et al. J Proteomics, 2012 Jun 6. PMID 22178446.
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    3. Comparative proteomic analysis identifies a role for SUMO in protein quality control. Tatham MH, et al. Sci Signal, 2011 Jun 21. PMID 21693764.
    4. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086.

    See all (43) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    3. Corepressor CtBP and PNN/DRS differentially modulate transcription and splicing of the E-cadherin gene.
      Title: Corepressor CtBP and nuclear speckle protein Pnn/DRS differentially modulate transcription and splicing of the E-cadherin gene.
    4. Pnn may participate, via its interaction with RNPS1, in mRNA metabolism in the nucleus, including mRNA splicing and export
      Title: Nuclear Pnn/DRS protein binds to spliced mRNPs and participates in mRNA processing and export via interaction with RNPS1.
    5. Pnn may play a general role in the control of the cellular amount of family SR proteins through down-regulation of its own expression
      Title: Loss of Pnn expression attenuates expression levels of SR family splicing factors and modulates alternative pre-mRNA splicing in vivo.
    6. the interaction of Pnn with the corepressor CtBP1 may modulate repression of E-cadherin transcription by CtBP1
      Title: Nuclear speckle-associated protein Pnn/DRS binds to the transcriptional corepressor CtBP and relieves CtBP-mediated repression of the E-cadherin gene.
    7. Pinin functions as a splicing regulator which participates itself directly in splicing reaction or indirectly via other components of splicing machinery
      Title: Modulation of alternative pre-mRNA splicing in vivo by pinin.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_002678.2 AAL76164.1 PNISR    BIND  PubMed Pnn interacts with SRrp130. 
    NP_002678.2 NP_057417.2 SRRM2    BIND  PubMed Pnn interacts with SRm300. 
    NP_002678.2 NP_005617.2 SRSF4    BIND  PubMed Pnn interacts with SRp75. 
    Q9H307 Q14028 CNGB1    HPRD  PubMed  
    Q9H307 Q13363 CTBP1    HPRD  PubMed  
    Q9H307 P56545 CTBP2    HPRD  PubMed  
    Q9H307 Q13409 DYNC1I2    HPRD  PubMed  
    Q9H307 P05783 KRT18    HPRD  PubMed  
    Q9H307 P08727 KRT19    HPRD  PubMed  
    Q9H307 P05787 KRT8    HPRD  PubMed  
    Q9H307 Q8TF01 PNISR    HPRD  PubMed  
    Q9H307 Q9H307 PNN    HPRD  PubMed  
    Q9H307 Q13427 PPIG    HPRD  PubMed  
    Q9H307 Q13523 PRPF4B    HPRD  PubMed  
    Q9H307 Q15287 RNPS1    HPRD  PubMed  
    Q9H307 Q9UQ35 SRRM2    HPRD  PubMed  
    Q9H307 Q08170 SRSF4    HPRD  PubMed  
    Q9H307 P61981 YWHAG    HPRD  PubMed  
    Q9H307 Q9NP64 ZCCHC17    HPRD  PubMed  
    BioGRID:111412 BioGRID:107869 CTBP1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111412 BioGRID:110073 KRT18    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:111412 BioGRID:110078 KRT19    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:111412 BioGRID:110054 KRT8    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:111412 BioGRID:110862 NFKBIL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111412 BioGRID:117448 PNISR    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:111412 BioGRID:114761 PPIG    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:111412 BioGRID:114416 PRPF4B    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:111412 BioGRID:114952 RBM39    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111412 BioGRID:116125 RNPS1    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:111412 BioGRID:115544 SRRM1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111412 BioGRID:117071 SRRM2    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Two-hybrid 
    BioGRID:111412 BioGRID:112327 SRSF4    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:111412 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111412 BioGRID:112781 TCEA2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111412 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111412 BioGRID:119598 ZCCHC17    BioGRID  PubMed Two-hybrid 
    BioGRID:111412 BioGRID:1205541 tat    BioGRID  PubMed Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the PNN gene: The PNN gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and C.elegans.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    • Exon junction complex (EJC), organism-specific biosystem (from KEGG)
      Exon junction complex (EJC), organism-specific biosystemStructural complex; Genetic information processing; RNA processing
    • RNA transport, organism-specific biosystem (from KEGG)
      RNA transport, organism-specific biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
    • RNA transport, conserved biosystem (from KEGG)
      RNA transport, conserved biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
    • mRNA surveillance pathway, organism-specific biosystem (from KEGG)
      mRNA surveillance pathway, organism-specific biosystemThe mRNA surveillance pathway is a quality control mechanism that detects and degrades abnormal mRNAs. These pathways include nonsense-mediated mRNA decay (NMD), nonstop mRNA decay (NSD), and no-go ...
    • mRNA surveillance pathway, conserved biosystem (from KEGG)
      mRNA surveillance pathway, conserved biosystemThe mRNA surveillance pathway is a quality control mechanism that detects and degrades abnormal mRNAs. These pathways include nonsense-mediated mRNA decay (NMD), nonstop mRNA decay (NSD), and no-go ...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    structural molecule activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell adhesion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    nuclear mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    		 PubMed 
    regulation of transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cell-cell junction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    desmosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    intermediate filament TAS
    Traceable Author Statement
    more info
    		 PubMed 
    nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    pinin
    Names
    pinin
    SR-like protein
    neutrophil protein
    nuclear protein SDK3
    domain-rich serine protein
    desmosome-associated protein
    melanoma metastasis clone A protein
    140 kDa nuclear and cell adhesion-related phosphoprotein
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    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_002687.3 → NP_002678.2  pinin

      Status: VALIDATED

      Source sequence(s)
      AL132639, BC062602, BG057344, BQ938918
      Consensus CDS
      CCDS9671.1
      UniProtKB/Swiss-Prot
      Q9H307
      Related
      ENSP00000216832, OTTHUMP00000178906, ENST00000216832, OTTHUMT00000276776
      Conserved Domains (2) summary
      pfam04696
      Location:134 – 264
      Blast Score: 325
      Pinin_SDK_memA; pinin/SDK/memA/ protein conserved region
      pfam04697
      Location:1 – 133
      Blast Score: 323
      Pinin_SDK_N; pinin/SDK conserved region

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000014.8 Reference GRCh37.p5 Primary Assembly

      Range
      39644387..39652422
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000146.1 Alternate HuRef

      Range
      19758590..19766626
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AF195139.1 AAG33941.1
    genomic AL132639.4 (18012..26047) None
    genomic CH471078.2 EAW65820.1
    genomic HC250973.1 CBJ05784.1
    genomic HC311162.1 CBJ21236.1
    mRNA AK223612.1 BAD97332.1
    mRNA AK292579.1 BAF85268.1
    mRNA AK300164.1 BAG61946.1
    mRNA AK303136.1 BAG64240.1
    mRNA AK304622.1 BAG65404.1
    mRNA BC062602.1 AAH62602.1
    mRNA BG057344.1 None
    mRNA BM850066.1 None
    mRNA BQ938918.1 None
    mRNA CD687183.1 None
    mRNA U59479.1 AAB03391.1
    mRNA U77718.1 AAB48304.1
    mRNA Y09703.1 CAA70874.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15789 GenPept UniProtKB/TrEMBL:Q15789
    Q9H307.4 GenPept UniProtKB/Swiss-Prot:Q9H307
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
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