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    PRR14L proline rich 14 like [ Homo sapiens (human) ]

    Gene ID: 253143, updated on 18-Dec-2024

    Summary

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    Official Symbol
    PRR14Lprovided by HGNC
    Official Full Name
    proline rich 14 likeprovided by HGNC
    Primary source
    HGNC:HGNC:28738
    See related
    Ensembl:ENSG00000183530 MIM:621035; AllianceGenome:HGNC:28738
    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
    C22orf30
    Expression
    Ubiquitous expression in testis (RPKM 3.6), colon (RPKM 3.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PRR14L in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (31681347..31750132, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (32145369..32214180, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (32077333..32146118, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene SFI1 centrin binding protein Neighboring gene Sharpr-MPRA regulatory region 2577 Neighboring gene ribosomal protein S18 pseudogene 14 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18863 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:31987010-31987819 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31988629-31989437 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:32006104-32006750 Neighboring gene VISTA enhancer hs2240 Neighboring gene Sharpr-MPRA regulatory region 13794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:32027367-32028054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13637 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18865 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:32042322-32043521 Neighboring gene microRNA 7109 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:32056038-32056932 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:32057235-32058434 Neighboring gene phosphatidylserine decarboxylase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:32060967-32061468 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:32091023-32091524 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:32145128-32145760 Neighboring gene Sharpr-MPRA regulatory region 5994 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13638 Neighboring gene RNA, 7SL, cytoplasmic 20, pseudogene Neighboring gene DEP domain containing 5, GATOR1 subcomplex subunit Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18872 Neighboring gene ibosomal protein L17 pseudogene 52

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia. Chase A, et al. Leukemia, 2019 May. PMID 30573780, Free PMC Article
    2. Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment. Fransen E, et al. Eur J Hum Genet, 2015 Jan. PMID 24939585, Free PMC Article
    3. A proteomic investigation of ligand-dependent HSP90 complexes reveals CHORDC1 as a novel ADP-dependent HSP90-interacting protein. Gano JJ, et al. Mol Cell Proteomics, 2010 Feb. PMID 19875381, Free PMC Article
    4. An integrated workflow for charting the human interaction proteome: insights into the PP2A system. Glatter T, et al. Mol Syst Biol, 2009. PMID 19156129, Free PMC Article
    5. Proteomic analysis and identification of cellular interactors of the giant ubiquitin ligase HERC2. Galligan JT, et al. J Proteome Res, 2015 Feb 6. PMID 25476789, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. we report for the first time the finding of loss of function PRR14L mutations in myeloid neoplasia and ARCH. Knockdown of PRR14L results in altered myeloid differentiation and cell growth in vitro and our data suggest that PRR14L may play a role in cell division.
      Title: PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.
    EBI GWAS Catalog

    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

    • FLJ23059, FLJ31368, FLJ33247, MGC50372, DKFZp781P2328

    General protein information

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    Preferred Names
    protein PRR14L
    Names
    proline rich 14-like protein

    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_173566.3 → NP_775837.2  protein PRR14L

      See identical proteins and their annotated locations for NP_775837.2

      Status: VALIDATED

      Source sequence(s)
      AK090566, BX647272, CD697995, CT841517, DA861907
      Consensus CDS
      CCDS13900.2
      UniProtKB/Swiss-Prot
      Q5THK1, Q5THK4, Q6ZNN1, Q6ZWH0, Q8IW74, Q9H5T4
      Related
      ENSP00000331845.6, ENST00000327423.11
      Conserved Domains (1) summary
      pfam15386
      Location:2030 → 2083
      Tantalus; Drosophila Tantalus-like

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      31681347..31750132 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      32145369..32214180 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5THK1.1 GenPept UniProtKB/Swiss-Prot:Q5THK1

    Gene LinkOut

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

    Chemical Information
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