TSR3 - TSR3 ribosome maturation factor Gene

Homo sapiens

Also known as HsTsr3; C16orf42

Gene ID: 115939 | Gene type: protein coding

About TSR3

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:1,349,240-1,351,878 (from NCBI)

This gene has 2 transcripts (splice variants) and 199 orthologues. Ubiquitous expression in fat (RPKM 23.3), kidney (RPKM 22.0) and 25 other tissues.

Summary

Enables transferase activity. Involved in enzyme-directed rRNA pseudouridine synthesis. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

TSR3 Products(1)

mRNA	Protein	Name
NM_001001410.3	NP_001001410.1	18S rRNA aminocarboxypropyltransferase

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables 18S rRNA aminocarboxypropyltransferase activity	IMP IMP: Inferred from mutant phenotype	27084949	GOA
enables transferase activity	EXP EXP: Inferred from Experiment	27084949	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in enzyme-directed rRNA pseudouridine synthesis	IMP IMP: Inferred from mutant phenotype	27084949	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

TSR3 Protein Structure

RLI

Ribo_biogen_C

0
100
200
312 a.a.

Protein Preferred Names

Protein Names

18S rRNA aminocarboxypropyltransferase

20S S rRNA accumulation protein 3 homolog

Related Diseases

Diseases

Alias

Geleophysic Dysplasia 1

GPHYSD1	Geleophysic Dwarfism
Geleophysic Dysplasia

Peters-Plus Syndrome

Krause-Kivlin Syndrome	Peters Plus Syndrome
Peters Anomaly	Irido-Corneo-Trabecular Dysgenesis
PTRPLS	Peters Anomaly With Short-Limb Dwarfism
Peters Anomaly-Short Limb Dwarfism Syndrome	Peters Anomaly With Short Limb Dwarfism
Peters Congenital Glaucoma	Krause-Van Schooneveld-Kivlin Syndrome
Peters' Plus Syndrome	Peters'-Plus Syndrome
Anomaly Peters

Bowen-Conradi Syndrome

BWCNS	Bowen Hutterite Syndrome
Bowen-Conradi Hutterite Syndrome	Bowen Syndrome, Hutterite Type
Bowen Hutterite Syndrome, Formerly	Hutterite Syndrome
Bowen Syndrome Hutterite Type	Fetal Growth Retardation

Geleophysic Dysplasia 3

GPHYSD3

Adult-Onset Severe Asthma

Geleophysic Dysplasia

Geleophysic Dwarfism

Gphysd

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-RS15186	TSR3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	TSR3	VGNC	VGNC:78948
Felis catus	TSR3	VGNC	VGNC:66643
Bos taurus	TSR3	VGNC	VGNC:36448
Canis familiaris	TSR3	VGNC	VGNC:47931
Mus musculus	TSR3	MGD	MGI:1915577
Rattus norvegicus	TSR3	RGD	RGD:1565744

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