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    PTGES3L-AARSD1 PTGES3L-AARSD1 readthrough [ Homo sapiens (human) ]

    Gene ID: 100885850, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PTGES3L-AARSD1provided by HGNC
    Official Full Name
    PTGES3L-AARSD1 readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:43946
    See related
    Ensembl:ENSG00000108825 AllianceGenome:HGNC:43946
    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
    Summary
    This locus represents naturally occurring readthrough transcription between the neighboring PTGES3L (prostaglandin E synthase 3 (cytosolic)-like) and AARSD1(alanyl-tRNA synthetase domain containing 1) genes on chromosome 17. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, May 2012]
    Expression
    Broad expression in testis (RPKM 24.0), heart (RPKM 10.5) and 25 other tissues See more
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    Genomic context

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    See PTGES3L-AARSD1 in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42950526..42980528, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43807669..43837800, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41102543..41132545, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RNY4 pseudogene 2 Neighboring gene small nucleolar RNA SNORA40 Neighboring gene alanyl-tRNA synthetase domain containing 1 Neighboring gene MPRA-validated peak2851 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41124646-41125212 Neighboring gene prostaglandin E synthase 3 like Neighboring gene MPRA-validated peak2852 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12229 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8549 Neighboring gene RUN domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41142673-41143174 Neighboring gene uncharacterized LOC124904006 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:41149993-41151192 Neighboring gene ribosomal protein L27

    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. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Miki Y, et al. Science, 1994 Oct 7. PMID 7545954
    2. The full-ORF clone resource of the German cDNA Consortium. Bechtel S, et al. BMC Genomics, 2007 Oct 31. PMID 17974005, Free PMC Article
    3. Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. Deng X, et al. PLoS One, 2013. PMID 24324551, Free PMC Article
    4. 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
    5. CD95/Fas suppresses NF-κB activation through recruitment of KPC2 in a CD95L/FasL-independent mechanism. Guégan JP, et al. iScience, 2021 Dec 17. PMID 34917906, Free PMC Article

    See all (16) 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

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    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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    Homology

    Clone Names

    • MGC2744, MGC4371, FLJ36765, FLJ56441

    General protein information

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    Preferred Names
    PTGES3L-AARSD1 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_001136042.2 → NP_001129514.2  PTGES3L-AARSD1 protein isoform 1

      See identical proteins and their annotated locations for NP_001129514.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF039235, AI312767, AK295447
      UniProtKB/TrEMBL
      B3KSP9
      Related
      ENSP00000409924.2, ENST00000421990.7
      Conserved Domains (3) summary
      cd00237
      Location:48 → 153
      p23; p23 binds heat shock protein (Hsp)90 and participates in the folding of a number of Hsp90 clients, including the progesterone receptor. p23 also has a passive chaperoning activity and in addition may participate in prostaglandin synthesis.
      COG2872
      Location:217 → 422
      AlaX; Ser-tRNA(Ala) deacylase AlaX (editing enzyme) [Translation, ribosomal structure and biogenesis]
      cl08469
      Location:214 → 410
      tRNA_SAD; Threonyl and Alanyl tRNA synthetase second additional domain

    2. NM_025267.4 → NP_079543.1  PTGES3L-AARSD1 protein isoform 2

      See identical proteins and their annotated locations for NP_079543.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate in-frame downstream start codon, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AC055866, AF039235, BC019324
      UniProtKB/TrEMBL
      B3KSP9
      Related
      ENSP00000353355.4, ENST00000360221.8
      Conserved Domains (3) summary
      cd00237
      Location:1 → 92
      p23; p23 binds heat shock protein (Hsp)90 and participates in the folding of a number of Hsp90 clients, including the progesterone receptor. p23 also has a passive chaperoning activity and in addition may participate in prostaglandin synthesis.
      COG2872
      Location:156 → 361
      AlaX; Ser-tRNA(Ala) deacylase AlaX (editing enzyme) [Translation, ribosomal structure and biogenesis]
      cl28133
      Location:91 → 214
      tRNA-synt_2c; tRNA synthetases class II (A)

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      42950526..42980528 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      43807669..43837800 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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