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

Gene ID: 27079, updated on 6-Sep-2022

Summary

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, Apr 2022]
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

See RPUSD2 in Genome Data Viewer
Location:
15q15.1
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (40569299..40574949)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (38374991..38380643)
105.20220307 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 mitochondrial ribosomal protein L42 pseudogene 5 Neighboring gene Sharpr-MPRA regulatory region 4500 Neighboring gene tRNA-Ser (anticodon GCT) 4-2 Neighboring gene small nucleolar RNA U13 Neighboring gene kinetochore scaffold 1

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
involved_in mRNA processing IEA
Inferred from Electronic Annotation
more info
 
involved_in mRNA pseudouridine synthesis IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 

General protein information

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_001286407.2NP_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/Swiss-Prot
    Q8IZ73
    Related
    ENSP00000453036.1, ENST00000559271.1
    Conserved Domains (1) summary
    cd02557
    Location:147330
    PseudoU_synth_ScRIB2; Pseudouridine synthases similar to Saccharomyces cerevisiae RIB2
  2. NM_152260.3NP_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
    Q8IZ73, Q96N50
    Related
    ENSP00000323288.7, ENST00000315616.12
    Conserved Domains (1) summary
    cd02557
    Location:208391
    PseudoU_synth_ScRIB2; Pseudouridine synthases similar to Saccharomyces cerevisiae RIB2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)