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

Gene ID: 100885850, updated on 27-Aug-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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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)
105.20220307 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 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 (15) 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

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