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RPUSD3 RNA pseudouridine synthase D3 [ Homo sapiens (human) ]

Gene ID: 285367, updated on 11-Jun-2021

Summary

Official Symbol
RPUSD3provided by HGNC
Official Full Name
RNA pseudouridine synthase D3provided by HGNC
Primary source
HGNC:HGNC:28437
See related
Ensembl:ENSG00000156990 MIM:617759
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes a protein that functions in the assembly of the mitochondrial ribosome by adding a pseudouridine group to 16S rRNA. Loss of this gene results in causes defects in mitochondrial protein production. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2017]
Expression
Ubiquitous expression in testis (RPKM 19.6), placenta (RPKM 7.8) and 25 other tissues See more
Orthologs
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Genomic context

See RPUSD3 in Genome Data Viewer
Location:
3p25.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (9836253..9844059, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (9879487..9885743, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene 8-oxoguanine DNA glycosylase Neighboring gene Sharpr-MPRA regulatory region 4794 Neighboring gene transcriptional adaptor 3 Neighboring gene ARPC4-TTLL3 readthrough Neighboring gene actin related protein 2/3 complex subunit 4 Neighboring gene tubulin tyrosine ligase like 3 Neighboring gene microtubule affinity regulating kinase 2 pseudogene 1 Neighboring gene cell death inducing DFFA like effector c

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

  • FLJ34707, FLJ37268, MGC29784

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables pseudouridine synthase activity IBA
Inferred from Biological aspect of Ancestor
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 positive regulation of mitochondrial translation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
mitochondrial mRNA pseudouridine synthase RPUSD3
Names
RNA pseudouridylate synthase domain containing 3
RNA pseudouridylate synthase domain-containing protein 3

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.

Genomic

  1. NG_054931.1 RefSeqGene

    Range
    4960..11216
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142547.3NP_001136019.2  mitochondrial mRNA pseudouridine synthase RPUSD3 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC018809
    Consensus CDS
    CCDS46744.1
    Related
    ENSP00000398921.2, ENST00000433535.6
  2. NM_001351736.3NP_001338665.1  mitochondrial mRNA pseudouridine synthase RPUSD3 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC018809, BC065741, BU197244, HY235216
    Consensus CDS
    CCDS87038.1
    Related
    ENSP00000408693.1, ENST00000424438.5
    Conserved Domains (1) summary
    cd02869
    Location:58210
    PseudoU_synth_RluCD_like; Pseudouridine synthase, RsuA/RluD family
  3. NM_001351737.2NP_001338666.2  mitochondrial mRNA pseudouridine synthase RPUSD3 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC018809
  4. NM_001351738.2NP_001338667.2  mitochondrial mRNA pseudouridine synthase RPUSD3 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC018809
    Related
    ENSP00000400397.1, ENST00000427174.5
  5. NM_173659.5NP_775930.3  mitochondrial mRNA pseudouridine synthase RPUSD3 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC018809
    Consensus CDS
    CCDS2586.2
    Related
    ENSP00000373331.5, ENST00000383820.9

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    9836253..9844059 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453472.1XP_024309240.1  mitochondrial mRNA pseudouridine synthase RPUSD3 isoform X2

    Related
    ENSP00000415616.1, ENST00000418713.5
    Conserved Domains (1) summary
    cd02869
    Location:90242
    PseudoU_synth_RluCD_like; Pseudouridine synthase, RsuA/RluD family
  2. XM_024453471.1XP_024309239.1  mitochondrial mRNA pseudouridine synthase RPUSD3 isoform X1

    Conserved Domains (1) summary
    cd02869
    Location:90275
    PseudoU_synth_RluCD_like; Pseudouridine synthase, RsuA/RluD family
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