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

    Gene ID: 253143, updated on 17-Sep-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ23059, FLJ31368, FLJ33247, MGC50372, DKFZp781P2328

    General protein information

    Preferred Names
    protein PRR14L
    Names
    proline rich 14-like protein

    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_173566.3NP_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:20302083
      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)