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PUS3 - pseudouridine synthase 3 Gene

Also Known as DEG1; MRT55; FKSG32; NEDMIGS; 2610020J05Rik

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 83480

About PUS3

Cytogenetic location: 11q24.2 Genomic coordinates (GRCh38): 11:125,893,485-125,903,206 (from NCBI)

This gene has 5 transcripts (splice variants), 215 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in liver (RPKM 5.1), appendix (RPKM 3.5) and 25 other tissues.

Summary

The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

PUS3 Products (2)

mRNA	Protein	Name
NM_001271985.2	NP_001258914.1	tRNA pseudouridine(38/39) synthase isoform 2
NM_031307.4	NP_112597.4	tRNA pseudouridine(38/39) synthase isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables pseudouridine synthase activity	EXP EXP: Inferred from Experiment	27055666	GOA
enables tRNA pseudouridine(38/39) synthase activity	IMP IMP: Inferred from mutant phenotype	27055666	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in tRNA pseudouridine synthesis	IMP IMP: Inferred from mutant phenotype	27055666	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

PUS3 Protein Structure

PseudoU_synth_1

0
100
200
300
400
481 a.a.

Protein Preferred Names	Protein Names
tRNA pseudouridine(38/39) synthase	pseudouridylate synthase 3

Related Diseases

Diseases	Alias
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome NEDMIGS Mental Retardation, Autosomal Recessive 55, Formerly Mrt55, Formerly Mrt55
Hydrolethalus Syndrome 1	Hydrolethalus Syndrome HLS1 Salonen-Herva-Norio Syndrome Hls Hydrolethalus Hydrolethalus Syndrome, Type 1
Anencephaly	Aprosencephaly Anencephalus Congenital Absence Of Brain Absence Of A Large Part Of The Brain And The Skull Anencephalia Anencephalic Monster Brain Absence Brain Agenesis Brain Aplasia Absent Brain Anencephalic Congenital Absence Of Cerebrum Congenital Hemicrania Incomplete Anencephaly
Polyhydramnios
Dandy-Walker Syndrome	Dandy-Walker Malformation DWS Atresia Of Foramina Of Magendie And Luschka Dandy-Walker Complex Dandy-Walker Cyst Dandy-Walker Deformity Dandy Walker Cyst Dw Complex Dandy-Walker Syndrome Or Malformation Dandy-Walker Variant Mega Cisterna Magna Dwm Hydrocephalus, Internal, Dandy-Walker Type Hydrocephalus, Noncommunicating, Dandy-Walker Type Luschka-Magendie Foramina Atresia Isolated Dandy-Walker Malformation Mega-Cisterna Magna Dandy Walker Variant Atresia Of Foramen Of Luschka Atresia Of Foramen Of Magendie Congenital Blockage Of Foramen Magendie
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
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
Suppurative Periapical Periodontitis	Periapical Abscess Apical Abscess Suppurative Apical Periodontitis Dentoalveolar Abscess Dental Abscess With Sinus Dentoalveolar Abscess With Sinus Dental Sinus Periapical Abscess Fistula Apical Tooth Abscess Apex Abscess Dental Abscess Nos Infection Of Tooth Nos Abscess Of Tooth Dental Infection Nos
Immunodeficiency 31b	IMD31B Immunodeficiency 31b, Mycobacterial And Viral Infections, Autosomal Recessive Autosomal Recessive Stat1 Deficiency Predisposition To Severe Viral Infection Due To Stat1 Deficiency Susceptibility To Viral And Mycobacterial Infections Due To Stat1 Deficiency Stat1 Deficiency, Autosomal Recessive Autosomal Recessive Immunodeficiency 31b, Mycobacterial And Viral Infections Stat1 Deficiency Autosomal Recessive Susceptibility To Mycobacterial And Viral Infections Mycobacterial And Viral Infections Due To Complete Stat1 Deficiency Immunodeficiency, Type 31b, Mycobacterial And Viral Infections, Autosomal Recessive
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Autosomal Recessive Intellectual Developmental Disorder	Mental Retardation, Autosomal Recessive Autosomal Recessive Mental Retardation Autosomal Recessive Non-Syndromic Mental Retardation Autosomal Recessive Non-Syndromic Intellectual Disability
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11469	PUS3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22292	Pus3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28815	Pus3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PUS3	VGNC	VGNC:45212
Bos taurus	PUS3	VGNC	VGNC:33576
Rattus norvegicus	PUS3	RGD	RGD:1310757
Felis catus	PUS3	VGNC	VGNC:81949
Mus musculus	PUS3	MGD	MGI:1914299
Macaca mulatta	PUS3	VGNC	VGNC:101387
Others	PUS3	NCBI