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

Gene ID: 253143, updated on 5-Mar-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 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
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Genomic context

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Location:
22q12.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (31681347..31750132, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (32145369..32214180, complement)
105.20220307 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 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:32225023-32226222 Neighboring gene RNA, U6 small nuclear 201, 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. 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 (29) 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)

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

  • 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_2023_10

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.

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