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PRR14 proline rich 14 [ Homo sapiens (human) ]

Gene ID: 78994, updated on 2-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 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)

Genotypes

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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