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    PRR14 proline rich 14 [ Homo sapiens (human) ]

    Gene ID: 78994, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PRR14provided by HGNC
    Official Full Name
    proline rich 14provided by HGNC
    Primary source
    HGNC:HGNC:28458
    See related
    Ensembl:ENSG00000156858 MIM:617423; AllianceGenome:HGNC:28458
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    The protein encoded by this gene tethers heterochromatin to the nuclear laminar scaffold by binding heterochromatin protein 1 (HP1) and the nuclear lamina. The tether is broken during mitosis and reforms quickly after mitosis, with the encoded protein first binding HP1 and then attaching to the nuclear lamina. This protein also has been shown to promote MyoD activity and skeletal myogenesis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2016]
    Expression
    Ubiquitous expression in spleen (RPKM 13.5), bone marrow (RPKM 12.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PRR14 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30650778..30656413)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31037745..31043380)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30662099..30667734)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 688 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:30596216-30596816 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30597418-30598018 Neighboring gene zinc finger protein 785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7381 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30621737-30622706 Neighboring gene uncharacterized LOC124903678 Neighboring gene zinc finger protein 689 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30626940-30627180 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:30644787-30645738 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:30645739-30646689 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30661003-30661520 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30661521-30662036 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7382 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7383 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7384 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7385 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10717 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7387 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10718 Neighboring gene fibrosin Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30681557-30681750 Neighboring gene RNA, U6 small nuclear 416, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. The human protein PRR14 tethers heterochromatin to the nuclear lamina during interphase and mitotic exit. Poleshko A, et al. Cell Rep, 2013 Oct 31. PMID 24209742, Free PMC Article
    2. Specifying peripheral heterochromatin during nuclear lamina reassembly. Poleshko A, et al. Nucleus, 2014 Jan-Feb. PMID 24637393, Free PMC Article
    3. A novel role of PRR14 in the regulation of skeletal myogenesis. Yang M, et al. Cell Death Dis, 2015 Apr 23. PMID 25906157, Free PMC Article
    4. PRR14 is a novel activator of the PI3K pathway promoting lung carcinogenesis. Yang M, et al. Oncogene, 2016 Oct 20. PMID 27041574, Free PMC Article
    5. The PRR14 heterochromatin tether encodes modular domains that mediate and regulate nuclear lamina targeting. Dunlevy KL, et al. J Cell Sci, 2020 May 27. PMID 32317397, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The PRR14 heterochromatin tether encodes modular domains that mediate and regulate nuclear lamina targeting.
      Title: The PRR14 heterochromatin tether encodes modular domains that mediate and regulate nuclear lamina targeting.
    2. PRR14 may promote the progression and metastasis of colon cancer, and may be a novel prognostic and therapeutic marker for the disease.
      Title: PRR14 overexpression promotes cell growth, epithelial to mesenchymal transition and metastasis of colon cancer via the AKT pathway.
    3. We show that increased PRR14 expression promoted and reduced PRR14 expression impeded lung cancer cell proliferation. Interestingly, PRR14 cells were markedly enlarged in size and exhibited an elevated activity of the PI3-kinase/Akt/mTOR pathway
      Title: PRR14 is a novel activator of the PI3K pathway promoting lung carcinogenesis.
    4. The results altogether support a model in which PRR14 promotes skeletal myogenesis via supporting nuclear lamina structure and enhancing the activity of MyoD.
      Title: A novel role of PRR14 in the regulation of skeletal myogenesis.
    5. The stepwise reassembly of PRR14 suggests a function in the selection of heterochromatin protein 1-bound heterochromatin for reattachment to the nuclear lamina as cells exit mitosis.
      Title: The human protein PRR14 tethers heterochromatin to the nuclear lamina during interphase and mitotic exit.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC3121, DKFZp781A13198

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in muscle organ development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear lamina IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    proline-rich protein 14

    NCBI Reference Sequences (RefSeq)

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    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_001320464.3 → NP_001307393.1  proline-rich protein 14

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AL599080, BC050677
      Consensus CDS
      CCDS10687.1
      UniProtKB/Swiss-Prot
      Q8WTX2, Q9BWN1
      UniProtKB/TrEMBL
      Q96D88
      Related
      ENSP00000441641.2, ENST00000542965.2
      Conserved Domains (2) summary
      pfam15386
      Location:463 → 512
      Tantalus; Drosophila Tantalus-like
      cl26464
      Location:2 → 353
      Atrophin-1; Atrophin-1 family

    2. NM_024031.5 → NP_076936.1  proline-rich protein 14

      See identical proteins and their annotated locations for NP_076936.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      BC050677
      Consensus CDS
      CCDS10687.1
      UniProtKB/Swiss-Prot
      Q8WTX2, Q9BWN1
      UniProtKB/TrEMBL
      Q96D88
      Related
      ENSP00000300835.4, ENST00000300835.9
      Conserved Domains (2) summary
      pfam15386
      Location:463 → 512
      Tantalus; Drosophila Tantalus-like
      cl26464
      Location:2 → 353
      Atrophin-1; Atrophin-1 family

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      30650778..30656413
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      31037745..31043380
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BWN1.1 GenPept UniProtKB/Swiss-Prot:Q9BWN1

    Gene LinkOut

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

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