PUS3 pseudouridine synthase 3 [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:25461
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: DEG1; MRT55; FKSG32; NEDMIGS; 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: mouse all
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Genomic context

Location:: 11q24.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (125893485..125903206, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (125922358..125932075, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (125763380..125773101, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The molecular basis of tRNA selectivity by human pseudouridine synthase 3.
Title: The molecular basis of tRNA selectivity by human pseudouridine synthase 3.
Destabilization of mutated human PUS3 protein causes intellectual disability.
Title: Destabilization of mutated human PUS3 protein causes intellectual disability.
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.
Title: Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.
Consistent with the known role of Pus3 in isomerizing uracil to pseudouridine at positions 38 and 39 in tRNA, we found a significant reduction in this post-transcriptional modification of tRNA in patient cells
Title: A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.

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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

Associated conditions

Description	Tests
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome MedGen: C4310745 OMIM: 617051 GeneReviews: Not available	Compare labs

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables pseudouridine synthase activity	EXP Inferred from Experiment more info	PubMed
enables pseudouridine synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables tRNA pseudouridine(38/39) synthase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in mRNA pseudouridine synthesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in tRNA modification	TAS Traceable Author Statement more info
involved_in tRNA pseudouridine synthesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in tRNA pseudouridine synthesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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

EC 5.4.99.45

NP_112597.4

EC 5.4.99.45

XP_005271745.1

EC 5.4.99.45

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

NG_033067.2 RefSeqGene

Range

5000..14721

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001271985.2 → NP_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/TrEMBL

A0A087WY59

Related

ENSP00000481536.1, ENST00000613398.4

Conserved Domains (1) summary

cl00130
Location:1 → 121

PseudoU_synth; Pseudouridine synthases catalyze the isomerization of specific uridines in an RNA molecule to pseudouridines (5-ribosyluracil, psi)
NM_031307.4 → NP_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

UniProtKB/Swiss-Prot

B2RAM0, Q96D17, Q96J23, Q96NB4, Q9BZE2

Related

ENSP00000227474.3, ENST00000227474.8

Conserved Domains (1) summary

cd02569
Location:67 → 329

PseudoU_synth_ScPus3; Pseudouridine synthase, Saccharomyces cerevisiae Pus3 like

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

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

125893485..125903206 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005271688.5 → XP_005271745.1 tRNA pseudouridine(38/39) synthase isoform X1

UniProtKB/TrEMBL

E9PRI9

Conserved Domains (2) summary

pfam11853
Location:10 → 50

DUF3373; Protein of unknown function (DUF3373)

cl00130
Location:67 → 166

PseudoU_synth; Pseudouridine synthases catalyze the isomerization of specific uridines in an RNA molecule to pseudouridines (5-ribosyluracil, psi)