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    PNN pinin, desmosome associated protein [ Homo sapiens (human) ]

    Gene ID: 5411, updated on 9-Dec-2024

    Summary

    Official Symbol
    PNNprovided by HGNC
    Official Full Name
    pinin, desmosome associated proteinprovided by HGNC
    Primary source
    HGNC:HGNC:9162
    See related
    Ensembl:ENSG00000100941 MIM:603154; AllianceGenome:HGNC:9162
    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
    Summary
    Enables RNA binding activity. Predicted to be involved in cell adhesion and mRNA splicing, via spliceosome. Predicted to act upstream of or within cell-cell adhesion. Located in exon-exon junction complex and nuclear speck. Part of catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 45.1), lymph node (RPKM 42.9) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PNN in Genome Data Viewer
    Location:
    14q21.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (39175254..39183220)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (33363935..33371901)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (39644458..39652424)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8285 Neighboring gene gem nuclear organelle associated protein 2 Neighboring gene trafficking protein particle complex subunit 6B Neighboring gene ribosomal protein L7a pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:39638995-39639584 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:39640175-39640764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8287 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:39644148-39645347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:39646527-39647027 Neighboring gene PNN antisense RNA 1 Neighboring gene transmembrane protein 92 pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:39672946-39674145 Neighboring gene YTH domain family member 2 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural molecule activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell-cell junction TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in desmosome IEA
    Inferred from Electronic Annotation
    more info
     
    part_of exon-exon junction complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intermediate filament TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_002687.4NP_002678.3  pinin

      Status: VALIDATED

      Source sequence(s)
      AL132639
      Consensus CDS
      CCDS9671.1
      UniProtKB/Swiss-Prot
      B4DZX8, O60899, Q53EM7, Q6P5X4, Q7KYL1, Q99738, Q9H307, Q9UHZ9, Q9UQR9
      UniProtKB/TrEMBL
      A8K964
      Related
      ENSP00000216832.4, ENST00000216832.9
      Conserved Domains (2) summary
      pfam04696
      Location:136261
      Pinin_SDK_memA; pinin/SDK/memA/ protein conserved region
      pfam04697
      Location:5132
      Pinin_SDK_N; pinin/SDK conserved region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      39175254..39183220
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      33363935..33371901
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)