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PUS3 pseudouridine synthase 3 [ Homo sapiens (human) ]

Gene ID: 83480, updated on 20-Dec-2019

Summary

Official Symbol
PUS3provided by HGNC
Official Full Name
pseudouridine synthase 3provided by HGNC
Primary source
HGNC:HGNC:25461
See related
Ensembl:ENSG00000110060 MIM:616283
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
Also known as
MRT55; FKSG32; 2610020J05Rik
Summary
The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Expression
Ubiquitous expression in liver (RPKM 5.1), appendix (RPKM 3.5) and 25 other tissues See more
Orthologs

Genomic context

See PUS3 in Genome Data Viewer
Location:
11q24.2
Exon count:
4
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (125893485..125903278, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (125763380..125773145, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369552 Neighboring gene prostate and testis expressed 4 Neighboring gene HYLS1 centriolar and ciliogenesis associated Neighboring gene DEAD-box helicase 25 Neighboring gene V-set and immunoglobulin domain containing 10 like 2

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23638

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding IEA
Inferred from Electronic Annotation
more info
 
pseudouridine synthase activity EXP
Inferred from Experiment
more info
PubMed 
pseudouridine synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pseudouridine synthase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
tRNA pseudouridine synthase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
mRNA pseudouridine synthesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA modification TAS
Traceable Author Statement
more info
 
tRNA pseudouridine synthesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA pseudouridine synthesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
tRNA pseudouridine(38/39) synthase
Names
pseudouridylate synthase 3
tRNA pseudouridine synthase 3
tRNA pseudouridylate synthase 3
tRNA-uridine isomerase 3
NP_001258914.1
NP_112597.4
XP_005271745.1
XP_024304474.1

NCBI Reference Sequences (RefSeq)

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_033067.1 RefSeqGene

    Range
    5001..14737
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001271985.1NP_001258914.1  tRNA pseudouridine(38/39) synthase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate coding exon and uses a downstream start codon compared to variant 1. It encodes isoform 2, which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AF325689, AP000842, BC004822, BM786445
    Consensus CDS
    CCDS73411.1
    UniProtKB/Swiss-Prot
    Q9BZE2
    UniProtKB/TrEMBL
    A0A087WY59
    Related
    ENSP00000481536.1, ENST00000613398.4
    Conserved Domains (1) summary
    cl00130
    Location:1121
    PseudoU_synth; Pseudouridine synthases catalyze the isomerization of specific uridines in an RNA molecule to pseudouridines (5-ribosyluracil, psi)
  2. NM_031307.4NP_112597.4  tRNA pseudouridine(38/39) synthase isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AP000842
    Consensus CDS
    CCDS8466.1
    Related
    ENSP00000227474.3, ENST00000227474.8
    Conserved Domains (1) summary
    cd02569
    Location:67329
    PseudoU_synth_ScPus3; Pseudouridine synthase, Saccharomyces cerevisiae Pus3 like

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    125893485..125903278 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448706.1XP_024304474.1  tRNA pseudouridine(38/39) synthase isoform X1

    Conserved Domains (1) summary
    cl00130
    Location:20230
    PseudoU_synth; Pseudouridine synthases catalyze the isomerization of specific uridines in an RNA molecule to pseudouridines (5-ribosyluracil, psi)
  2. XM_005271688.4XP_005271745.1  tRNA pseudouridine(38/39) synthase isoform X2

    Conserved Domains (2) summary
    pfam11853
    Location:1050
    DUF3373; Protein of unknown function (DUF3373)
    cl00130
    Location:67166
    PseudoU_synth; Pseudouridine synthases catalyze the isomerization of specific uridines in an RNA molecule to pseudouridines (5-ribosyluracil, psi)
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