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TSR3 - TSR3 ribosome maturation factor Gene

Also Known as HsTsr3; C16orf42

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 115939

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	References	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	References	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

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 Set	/	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
Others	TSR3	NCBI