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    RPUSD2 RNA pseudouridine synthase domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 27079, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RPUSD2provided by HGNC
    Official Full Name
    RNA pseudouridine synthase domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:24180
    See related
    Ensembl:ENSG00000166133 AllianceGenome:HGNC:24180
    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
    PUS9; C18B11; C15orf19
    Summary
    Enables pseudouridine synthase activity. Involved in mRNA pseudouridine synthesis. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 2.9), testis (RPKM 2.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RPUSD2 in Genome Data Viewer
    Location:
    15q15.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (40569299..40574949)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (38374991..38380643)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (40861498..40867148)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 32 Neighboring gene RNA, U6 small nuclear 516, pseudogene Neighboring gene mitochondrial ribosomal protein L42 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9248 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40846211-40846831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9249 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9250 Neighboring gene Sharpr-MPRA regulatory region 4500 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:40859416-40859595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9251 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40861831-40862330 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9255 Neighboring gene tRNA-Ser (anticodon GCT) 4-2 Neighboring gene small nucleolar RNA U13 Neighboring gene kinetochore scaffold 1

    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. Pseudouridine synthases modify human pre-mRNA co-transcriptionally and affect pre-mRNA processing. Martinez NM, et al. Mol Cell, 2022 Feb 3. PMID 35051350, Free PMC Article
    2. mRNA structure determines modification by pseudouridine synthase 1. Carlile TM, et al. Nat Chem Biol, 2019 Oct. PMID 31477916, Free PMC Article
    3. Protein array based interactome analysis of amyloid-β indicates an inhibition of protein translation. Virok DP, et al. J Proteome Res, 2011 Apr 1. PMID 21244100
    4. Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening. Wu C, et al. Proteomics, 2007 Jun. PMID 17474147
    5. PRISMA and BioID disclose a motifs-based interactome of the intrinsically disordered transcription factor C/EBPα. Ramberger E, et al. iScience, 2021 Jun 25. PMID 34189442, Free PMC Article

    See all (19) 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ31409

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables pseudouridine synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables pseudouridine synthase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in enzyme-directed rRNA pseudouridine synthesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA pseudouridine synthesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    pseudouridylate synthase RPUSD2
    Names
    C18B11 homolog (44.9kD)
    RNA pseudouridylate synthase domain containing 2
    RNA pseudouridylate synthase domain-containing protein 2

    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_001286407.2 → NP_001273336.1  pseudouridylate synthase RPUSD2 isoform 2

      See identical proteins and their annotated locations for NP_001273336.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC091045, AK293145, BC016967, DA746074
      Consensus CDS
      CCDS66737.1
      UniProtKB/TrEMBL
      B4DW61
      Related
      ENSP00000453036.1, ENST00000559271.1
      Conserved Domains (1) summary
      cd02557
      Location:147 → 330
      PseudoU_synth_ScRIB2; Pseudouridine synthases similar to Saccharomyces cerevisiae RIB2

    2. NM_152260.3 → NP_689473.1  pseudouridylate synthase RPUSD2 isoform 1

      See identical proteins and their annotated locations for NP_689473.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC091045, AK055971, BC016967, DA746074
      Consensus CDS
      CCDS10061.1
      UniProtKB/Swiss-Prot
      B4DDD1, Q7L989, Q8IZ73, Q92939, Q96IA7, Q96N50
      UniProtKB/TrEMBL
      B4DW61
      Related
      ENSP00000323288.7, ENST00000315616.12
      Conserved Domains (1) summary
      cd02557
      Location:208 → 391
      PseudoU_synth_ScRIB2; Pseudouridine synthases similar to Saccharomyces cerevisiae RIB2

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      40569299..40574949
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      38374991..38380643
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZ73.2 GenPept UniProtKB/Swiss-Prot:Q8IZ73

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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