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    RPL17-C18orf32 RPL17-C18orf32 readthrough [ Homo sapiens (human) ]

    Gene ID: 100526842, updated on 28-Oct-2024

    Summary

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    Official Symbol
    RPL17-C18orf32provided by HGNC
    Official Full Name
    RPL17-C18orf32 readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:44661
    See related
    Ensembl:ENSG00000215472 AllianceGenome:HGNC:44661
    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
    Also known as
    PD-1; RPL17
    Summary
    This locus represents naturally occurring read-through transcription between the neighboring RPL17 (ribosomal protein L17) and C18orf32 (chromosome 18 open reading frame 32) genes. Alternative splicing results in multiple transcript variants. The encoded isoforms share sequence identity with the RPL17 protein, but they include frameshifted C-terminal regions derived from the downstream gene exons. [provided by RefSeq, Dec 2010]
    Expression
    Ubiquitous expression in ovary (RPKM 394.7), bone marrow (RPKM 200.0) and 25 other tissues See more
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    Genomic context

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    See RPL17-C18orf32 in Genome Data Viewer
    Location:
    18q21.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (49481178..49492465, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (49678916..49690206, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (47007548..47018835, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene dymeclin Neighboring gene uncharacterized LOC124904298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13307 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46713027-46713528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46713529-46714028 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:46729371-46730248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13308 Neighboring gene NANOG hESC enhancer GRCh37_chr18:46845924-46846499 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9447 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9448 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46991502-46992276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9449 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13309 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:47018229-47018849 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:47026295-47027190 Neighboring gene chromosome 18 open reading frame 32 Neighboring gene proline rich 13 pseudogene 4 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:47042044-47042658 Neighboring gene small nucleolar RNA, C/D box 58C Neighboring gene small nucleolar RNA, C/D box 58A Neighboring gene small nucleolar RNA, C/D box 58B Neighboring gene long intergenic non-protein coding RNA 2837 Neighboring gene microRNA 1539 Neighboring gene signal recognition particle 72 pseudogene 1 Neighboring gene ribosomal protein L17

    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. Interactome mapping defines BRG1, a component of the SWI/SNF chromatin remodeling complex, as a new partner of the transcriptional regulator CTCF. Marino MM, et al. J Biol Chem, 2019 Jan 18. PMID 30459231, Free PMC Article
    2. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. Prakash T, et al. PLoS One, 2010 Oct 12. PMID 20967262, Free PMC Article
    3. Nuclear lamina genetic variants, including a truncated LAP2, in twins and siblings with nonalcoholic fatty liver disease. Brady GF, et al. Hepatology, 2018 May. PMID 28902428, Free PMC Article
    4. TRIM37 Mediates Chemoresistance and Maintenance of Stemness in Pancreatic Cancer Cells via Ubiquitination of PTEN and Activation of the AKT-GSK-3β-β-Catenin Signaling Pathway. Chen S, et al. Front Oncol, 2020. PMID 33194618, Free PMC Article
    5. Upregulation of RIN3 induces endosomal dysfunction in Alzheimer's disease. Shen R, et al. Transl Neurodegener, 2020 Jun 18. PMID 32552912, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    General protein information

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    Preferred Names
    RPL17-C18orf32 protein
    Names
    60S ribosomal protein L17
    60S ribosomal protein L23
    Large ribosomal subunit protein uL22

    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_001199355.1 → NP_001186284.1  RPL17-C18orf32 protein isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1). The 5' UTR of this variant is incomplete due to lack of full-length transcript support for this exon combination, and the presence of ambiguous splicing in the 5' region.
      Source sequence(s)
      AC100778, BX393840
      UniProtKB/TrEMBL
      A0A0A6YYL6
      Related
      ENSP00000463379.1, ENST00000584895.5
      Conserved Domains (1) summary
      PTZ00178
      Location:1 → 175
      PTZ00178; 60S ribosomal protein L17; Provisional

    2. NM_001199356.2 → NP_001186285.1  RPL17-C18orf32 protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC100778
      UniProtKB/TrEMBL
      A0A0A0MRF8
      Related
      ENSP00000352143.6, ENST00000332968.11
      Conserved Domains (1) summary
      PTZ00178
      Location:1 → 137
      PTZ00178; 60S ribosomal protein L17; Provisional

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      49481178..49492465 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      49678916..49690206 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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