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

Gene ID: 27079, updated on 26-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
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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

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

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