1. Gene
  2. PUS3 - pseudouridine synthase 3 Gene

PUS3 - pseudouridine synthase 3 Gene

Homo sapiens

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

Gene ID: 83480 | Gene type: protein coding

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 Reference 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 Reference 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

PseudoU_synth_1: tRNA pseudouridine synthase (68 - 189)

PseudoU_synth_1

PseudoU_synth_1: tRNA pseudouridine synthase (212 - 330)

  • 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

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