TRUB1 TruB pseudouridine synthase family member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TRUB1provided by HGNC
Official Full Name: TruB pseudouridine synthase family member 1provided by HGNC
Primary source: HGNC:HGNC:16060
See related: Ensembl:ENSG00000165832 MIM:610726; AllianceGenome:HGNC:16060
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: PUS4
Summary: Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008]
Expression: Ubiquitous expression in adrenal (RPKM 19.3), testis (RPKM 13.5) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q25.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (114938195..114977676)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (115832499..115871976)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (116697954..116737435)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Quantitative sequencing using BID-seq uncovers abundant pseudouridines in mammalian mRNA at base resolution.
Title: Quantitative sequencing using BID-seq uncovers abundant pseudouridines in mammalian mRNA at base resolution.
Human TRUB1 is a highly conserved pseudouridine synthase responsible for the formation of Psi55 in mitochondrial tRNAAsn, tRNAGln, tRNAGlu and tRNAPro.
Title: Human TRUB1 is a highly conserved pseudouridine synthase responsible for the formation of Ψ55 in mitochondrial tRNAAsn, tRNAGln, tRNAGlu and tRNAPro.
Mammalian nuclear TRUB1, mitochondrial TRUB2, and cytoplasmic PUS10 produce conserved pseudouridine 55 in different sets of tRNA.
Title: Mammalian nuclear TRUB1, mitochondrial TRUB2, and cytoplasmic PUS10 produce conserved pseudouridine 55 in different sets of tRNA.
The tRNA pseudouridine synthase TruB1 regulates the maturation of let-7 miRNA.
Title: The tRNA pseudouridine synthase TruB1 regulates the maturation of let-7 miRNA.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
TRUB1 gene encodes a 349-amino acid product, with a VFAVHKPKGPTSA box in positions 71-83 corresponding to motif I of the TruB family
Title: The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1.

Submit: New GeneRIF Correction

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

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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Markers

RH66196 (e-PCR)
- UniSTS:81484

STS-Z39556 (e-PCR)
- UniSTS:24230

RH68108 (e-PCR)
- UniSTS:84146

A004M41 (e-PCR)
- UniSTS:7661

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables pre-miRNA binding	IDA Inferred from Direct Assay 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 tRNA pseudouridine synthase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
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	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of pre-miRNA processing	IDA Inferred from Direct Assay more info	PubMed
involved_in tRNA modification	IBA Inferred from Biological aspect of Ancestor more info
involved_in tRNA modification	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: pseudouridylate synthase TRUB1

Names: TruB pseudouridine (psi) synthase family member 1; TruB pseudouridine (psi) synthase homolog 1; probable tRNA pseudouridine synthase 1; psi55 synthase TRUB1; tRNA pseudouridine 55 synthase TRUB1; truB pseudouridine synthase homolog 1

NP_631908.1

EC 5.4.99.25

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.