PUSL1 - pseudouridine synthase like 1 Gene

Homo sapiens

Gene ID: 126789 | Gene type: protein coding

About PUSL1

This gene has 5 transcripts (splice variants), 182 orthologues and 2 paralogues. Ubiquitous expression in skin (RPKM 3.5), testis (RPKM 3.1) and 25 other tissues.

Summary

Predicted to enable pseudouridine synthase activity. Predicted to be involved in tRNA pseudouridine synthesis. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]

PUSL1 Products(2)

mRNA	Protein	Name
NM_001346116.2	NP_001333045.1	tRNA pseudouridine synthase-like 1 isoform 1
NM_153339.3	NP_699170.1	tRNA pseudouridine synthase-like 1 isoform 2

Gene Ontology

Cellular Component

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	28082677	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

PUSL1 Protein Structure

PseudoU_synth_1

0
100
200
303 a.a.

Protein Preferred Names

Protein Names

tRNA pseudouridine synthase-like 1

pseudouridylate synthase like 1

Related Diseases

Diseases

Alias

Myopathy, Lactic Acidosis, And Sideroblastic Anemia

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-RS11471	PUSL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PUSL1	VGNC	VGNC:81515
Bos taurus	PUSL1	VGNC	VGNC:33578
Mus musculus	PUSL1	MGD	MGI:3047787
Canis familiaris	PUSL1	VGNC	VGNC:49842
Felis catus	PUSL1	VGNC	VGNC:80332
Rattus norvegicus	PUSL1	RGD	RGD:1559560

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