Pus1 pseudouridine synthase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pus1provided by MGI
Official Full Name: pseudouridine synthase 1provided by MGI
Primary source: MGI:MGI:1929237
See related: Ensembl:ENSMUSG00000029507 AllianceGenome:MGI:1929237
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: MPUS1; mPus1p; A730013B20Rik
Summary: Enables chromatin binding activity; nuclear receptor coactivator activity; and tRNA pseudouridine synthase activity. Involved in tRNA pseudouridine synthesis. Acts upstream of or within positive regulation of transcription by RNA polymerase II. Located in nucleolus. Part of transcription regulator complex. Used to study myopathy, lactic acidosis, and sideroblastic anemia. Human ortholog(s) of this gene implicated in myopathy, lactic acidosis, and sideroblastic anemia 1. Orthologous to human PUS1 (pseudouridine synthase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in large intestine adult (RPKM 13.1), liver E14 (RPKM 13.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 53.7 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (110921533..110928523, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (110773667..110780649, complement)

Chromosome 5 - NC_000071.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Collectively, these results suggest that alterations in muscle metabolism related to mitochondrial content and oxidative capacity may account for the reduced exercise capacity in Pus1(-/-) mice.
Title: Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations.
Pus1p- and Pus3p-dependent pseudouridylation of SRA controls a coactivator-corepressor switch in SRA with major consequences for NR signaling.
Title: Pus3p- and Pus1p-dependent pseudouridylation of steroid receptor RNA activator controls a functional switch that regulates nuclear receptor signaling.
Results identify a pseudouridine synthase, mPus1p, as a coactivator for retinoic acid receptor (mRAR)gamma when coexpressed with steroid receptor RNA activator.
Title: Regulation of nuclear receptor activity by a pseudouridine synthase through posttranscriptional modification of steroid receptor RNA activator.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Gene trapped (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables nuclear receptor coactivator activity	IDA Inferred from Direct Assay more info	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
enables pseudouridine synthase activity	IDA Inferred from Direct Assay more info	PubMed
enables pseudouridine synthase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables pseudouridine synthase activity	ISO Inferred from Sequence Orthology more info
enables steroid receptor RNA activator RNA binding	ISO Inferred from Sequence Orthology more info
enables steroid receptor RNA activator RNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables tRNA binding	ISO Inferred from Sequence Orthology more info
enables tRNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables tRNA pseudouridine synthase activity	IDA Inferred from Direct Assay more info	PubMed
enables tRNA pseudouridine(38-40) synthase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in mRNA pseudouridine synthesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA pseudouridine synthesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in tRNA pseudouridine synthesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within tRNA pseudouridine synthesis	IDA Inferred from Direct Assay more info	PubMed
involved_in tRNA pseudouridine synthesis	IDA Inferred from Direct Assay more info	PubMed
involved_in tRNA pseudouridine synthesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tRNA pseudouridine synthesis	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: pseudouridylate synthase 1 homolog

Names: tRNA pseudouridine synthase 1; tRNA pseudouridine synthase A, mitochondrial; tRNA pseudouridine(38-40) synthase; tRNA pseudouridylate synthase I; tRNA-uridine isomerase I

NP_001020732.1

EC 5.4.99.12

NP_001020733.1

EC 5.4.99.12

NP_001334319.1

EC 5.4.99.12

NP_001346147.1

EC 5.4.99.12

NP_001346148.1

EC 5.4.99.12

NP_062674.2

EC 5.4.99.12

XP_006535211.1

EC 5.4.99.12

XP_017176503.1

EC 5.4.99.12

XP_017176504.1

EC 5.4.99.12

XP_036021224.1

EC 5.4.99.12

XP_036021225.1

EC 5.4.99.12

XP_036021226.1

EC 5.4.99.12

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)

NM_001025561.3 → NP_001020732.1 pseudouridylate synthase 1 homolog isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC161348

Consensus CDS

CCDS19530.1

UniProtKB/TrEMBL

H7BX59, Q3TT85

Related

ENSMUSP00000083844.6, ENSMUST00000086643.12

Conserved Domains (2) summary

cd02568
Location:84 → 354

PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like

COG0101
Location:80 → 377

TruA; tRNA U38,U39,U40 pseudouridine synthase TruA [Translation, ribosomal structure and biogenesis]
NM_001025562.2 → NP_001020733.1 pseudouridylate synthase 1 homolog isoform 3

See identical proteins and their annotated locations for NP_001020733.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR and 5' coding region and lacks an in-frame segment in the coding region, as compared to variant 1. These differences cause translation initiation at a downstream AUG and an encoded protein (isoform 3) that is shorter than isoform 1. Variants 3 and 6 both encode the same isoform (3).

Source sequence(s)

AF116237, BY174054, CF618003

Consensus CDS

CCDS39212.1

UniProtKB/TrEMBL

Q3TT85

Related

ENSMUSP00000130814.2, ENSMUST00000170468.8

Conserved Domains (1) summary

cd02568
Location:54 → 306

PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like
NM_001347390.1 → NP_001334319.1 pseudouridylate synthase 1 homolog isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR and 5' coding region and lacks two in-frame segments in the coding region, as compared to variant 1. These differences cause translation initiation at a downstream AUG and an encoded protein (isoform 4) that is shorter than isoform 1.

Source sequence(s)

AC161348

Consensus CDS

CCDS84929.1

UniProtKB/TrEMBL

Q3TT85

Related

ENSMUSP00000108045.2, ENSMUST00000112426.8
NM_001359218.1 → NP_001346147.1 pseudouridylate synthase 1 homolog isoform 5

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (5) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC161348

UniProtKB/TrEMBL

Q3TT85

Conserved Domains (1) summary

cd02568
Location:54 → 324

PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like
NM_001359219.1 → NP_001346148.1 pseudouridylate synthase 1 homolog isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus and lacks an alternate internal segment compared to variant 1. Variants 3 and 6 both encode the same isoform (3).

Source sequence(s)

AC161348, AK161521

Consensus CDS

CCDS39212.1

UniProtKB/TrEMBL

Q3TT85

Related

ENSMUSP00000031481.7, ENSMUST00000031481.13

Conserved Domains (1) summary

cd02568
Location:54 → 306

PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like
NM_019700.4 → NP_062674.2 pseudouridylate synthase 1 homolog isoform 2

See identical proteins and their annotated locations for NP_062674.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, as compared to variant 1. The encoded isoform 2 thus lacks an internal segment, as compared to isoform 1.

Source sequence(s)

BU515425, BY331510, CB059120, CF618003

Consensus CDS

CCDS19531.1

UniProtKB/Swiss-Prot

Q3UUC6, Q791J1, Q8C250, Q8VDQ3, Q9EQD1, Q9JJE5, Q9WU56

UniProtKB/TrEMBL

Q3TT85

Related

ENSMUSP00000031483.9, ENSMUST00000031483.15

Conserved Domains (2) summary

cd02568
Location:84 → 336

PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like

COG0101
Location:80 → 359

TruA; tRNA U38,U39,U40 pseudouridine synthase TruA [Translation, ribosomal structure and biogenesis]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

110921533..110928523 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036165333.1 → XP_036021226.1 pseudouridylate synthase 1 homolog isoform X1

UniProtKB/TrEMBL

Q3TT85

Conserved Domains (1) summary

cd02568
Location:54 → 324

PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like
XM_017321015.3 → XP_017176504.1 pseudouridylate synthase 1 homolog isoform X2

UniProtKB/TrEMBL

Q3TT85

Conserved Domains (1) summary

cd02568
Location:54 → 306

PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like
XM_036165332.1 → XP_036021225.1 pseudouridylate synthase 1 homolog isoform X1

UniProtKB/TrEMBL

Q3TT85

Conserved Domains (1) summary

cd02568
Location:54 → 324

PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like
XM_017321014.2 → XP_017176503.1 pseudouridylate synthase 1 homolog isoform X2

UniProtKB/TrEMBL

Q3TT85

Conserved Domains (1) summary

cd02568
Location:54 → 306

PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like
XM_036165331.1 → XP_036021224.1 pseudouridylate synthase 1 homolog isoform X1

UniProtKB/TrEMBL

Q3TT85

Conserved Domains (1) summary

cd02568
Location:54 → 324

PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like
XM_006535148.3 → XP_006535211.1 pseudouridylate synthase 1 homolog isoform X3

UniProtKB/TrEMBL

Q3TT85

Conserved Domains (1) summary

cd02568
Location:84 → 290

PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like