PUS10 - pseudouridine synthase 10 Gene

Homo sapiens

Also known as DOBI; Hup10; CCDC139

Gene ID: 150962 | Gene type: protein coding

About PUS10

Cytogenetic location: 2p16.1-p15 Genomic coordinates (GRCh38): 2:60,940,223-61,018,259 (from NCBI)

This gene has 6 transcripts (splice variants) and 207 orthologues. Ubiquitous expression in small intestine (RPKM 2.6), lymph node (RPKM 2.3) and 25 other tissues.

Summary

Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide modification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylate synthases, such as PUS10, catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. These Enzymes also act as RNA chaperones, facilitating the correct folding and assembly of tRNAs (McCleverty et al., 2007 [PubMed 17900615]).[supplied by OMIM, May 2009]

PUS10 Products(4)

mRNA	Protein	Name
NM_001322123.1	NP_001309052.1	tRNA pseudouridine synthase Pus10 isoform 1
NM_001322124.1	NP_001309053.1	tRNA pseudouridine synthase Pus10 isoform 1
NM_001322127.1	NP_001309056.1	tRNA pseudouridine synthase Pus10 isoform 2
NM_144709.4	NP_653310.2	tRNA pseudouridine synthase Pus10 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables primary miRNA binding	IDA IDA: Inferred from direct assay	31819270	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA
enables pseudouridine synthase activity	IDA IDA: Inferred from direct assay	33023933	GOA
enables tRNA pseudouridine synthase activity	IDA IDA: Inferred from direct assay	30530625	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in primary miRNA processing	IDA IDA: Inferred from direct assay	31819270	GOA
involved in tRNA pseudouridine synthesis	IDA IDA: Inferred from direct assay	30530625	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	30530625	GOA
located in nucleus	IDA IDA: Inferred from direct assay	30530625	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

Protein Preferred Names

Protein Names

tRNA pseudouridine synthase Pus10

coiled-coil domain containing 139

Related Diseases

Diseases

Alias

Peroxisome Biogenesis Disorder 11a

PBD11A	Peroxisome Biogenesis Disorder Complementation Group 13
PBD-CG13	Cg13
Pbd-Cgh	Peroxisome Biogenesis Disorder Complementation Group H
Peroxisome Biogenesis Disorder, Type 11a	Peroxisome Biogenesis Disorder, Complementation Group 13

Astrakhan Spotted Fever

Siberian Tick Typhus

North Asian Tick Typhus	Manchurian Typhus
North Asian Tick Fever	Rickettsia Sibirica Spotted Fever
Spotted Fever Group Rickettsiosis

Israeli Tick Typhus

Israeli Spotted Fever

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Celiac Disease 1

Celiac Disease	Coeliac Disease
Celiac Sprue	Celiac Disease, Susceptibility To
Gluten-Sensitive Enteropathy	Nontropical Sprue
Sprue	CELIAC1
Celiac Disease, Susceptibility To, 1	Celiac Sprue 1
Celiac Sprue, Susceptibility To, 1	Gluten-Sensitive Enteropathy 1
Gluten-Sensitive Enteropathy, Susceptibility To, 1	Idiopathic Steatorrhea
Cœliac Disease	Gluten Intolerance
Gluten-Induced Enteropathy	Gluten Enteropathy
Celiac Disease, Susceptibility To, Type 1	Childhood Celiac Disease
Coeliac Rickets	Gee Disease
Gee-Herter Disease	Heubner-Herter Disease
Idiopathic Steatorrhoea	Thaysen'S Disease
Herter Gee Syndrome

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-RS11468	PUS10 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PUS10	MGD	MGI:1921717
Bos taurus	PUS10	VGNC	VGNC:33575
Canis familiaris	PUS10	VGNC	VGNC:45211
Macaca mulatta	PUS10	VGNC	VGNC:76547
Felis catus	PUS10	VGNC	VGNC:64439
Rattus norvegicus	PUS10	RGD	RGD:1306402

Name
Email *

	Sorry, but the email address you supplied was invalid.