TRUB1 - TruB pseudouridine synthase family member 1 Gene

Homo sapiens

Also known as PUS4

Gene ID: 142940 | Gene type: protein coding

About TRUB1

Cytogenetic location: 10q25.3 Genomic coordinates (GRCh38): 10:114,938,195-114,977,676 (from NCBI)

This gene has 2 transcripts (splice variants) and 194 orthologues. Ubiquitous expression in adrenal (RPKM 19.3), testis (RPKM 13.5) and 24 other tissues.

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]

TRUB1 Products(1)

mRNA	Protein	Name
NM_139169.5	NP_631908.1	pseudouridylate synthase TRUB1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables pre-miRNA binding	IDA IDA: Inferred from direct assay	32926445	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	33961781	GOA
enables pseudouridine synthase activity	IDA IDA: Inferred from direct assay	28073919	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mRNA pseudouridine synthesis	IDA IDA: Inferred from direct assay	28073919	GOA
involved in positive regulation of pre-miRNA processing	IDA IDA: Inferred from direct assay	32926445	GOA
involved in tRNA modification	IDA IDA: Inferred from direct assay	32926445	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	28073919	GOA
located in nucleus	IDA IDA: Inferred from direct assay	28073919	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TRUB1 Protein Structure

TruB_N

0
100
200
300
349 a.a.

Protein Preferred Names

Protein Names

pseudouridylate synthase TRUB1

TruB pseudouridine (psi) synthase family member 1

Related Diseases

Diseases

Alias

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant	Dc
Dkc	Zinsser-Engman-Cole Syndrome
Dyskeratosis Congenita, Autosomal Dominant	Autosomal Dominant Dyskeratosis Congenita
Dkca	Dyskeratosis Congenita Scoggins Type
Zinsser-Cole-Engman Syndrome	X-Linked Dyskeratosis Congenita
Hoyeraal-Hreidarsson Syndrome

Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1

Mitochondrial Myopathy And Sideroblastic Anemia	MLASA1
Mlasa	Myopathy, Lactic Acidosis And Sideroblastic Anemia
Myopathy With Lactic Acidosis And Sideroblastic Anemia	Sideroblastic Anemia And Mitochondrial Myopathy
Myopathy With Lactic Acidosis And Sideroblastic Anemia 1

Dyskeratosis Congenita, X-Linked

DKCX	X-Linked Dyskeratosis Congenita
Zinsser-Cole-Engman Syndrome	Hoyeraal-Hreidarsson Syndrome
Dyskeratosis Congenita X-Linked	HHS
Cerebellar Hypoplasia With Pancytopenia	Prenatal Growth Retardation With Progressive Pancytopenia And Cerebellar Hypoplasia
Dyskeratosis Congenita

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15128	TRUB1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	TRUB1	VGNC	VGNC:36404
Felis catus	TRUB1	VGNC	VGNC:66602
Mus musculus	TRUB1	MGD	MGI:1919383
Canis familiaris	TRUB1	VGNC	VGNC:47888
Macaca mulatta	TRUB1	VGNC	VGNC:79005
Rattus norvegicus	TRUB1	RGD	RGD:1308502

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