PUS3 (pseudouridine synthase 3)

2014-11-01  

Identity

HGNC
PUS3
LOCATION
11q24.2
LOCUSID
83480
ALIAS
2610020J05Rik,FKSG32,MRT55,NEDMIGS

Other Information

Locus ID:

NCBI: 83480
MIM: 616283
HGNC: 25461
Ensembl: ENSG00000110060

Variants:

dbSNP: 83480
ClinVar: 83480
TCGA: ENSG00000110060
COSMIC: PUS3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110060ENST00000227474Q9BZE2
ENSG00000110060ENST00000529801E9PNY6
ENSG00000110060ENST00000530811Q9BZE2
ENSG00000110060ENST00000534158E9PRI9
ENSG00000110060ENST00000613398A0A087WY59

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
tRNA processingREACTOMER-HSA-72306
tRNA modification in the nucleus and cytosolREACTOMER-HSA-6782315

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
361254282022Destabilization of mutated human PUS3 protein causes intellectual disability.7
361254282022Destabilization of mutated human PUS3 protein causes intellectual disability.7
344150642021Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.14
344150642021Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.14
270556662016A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.74
270556662016A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.74

Citation

Dessen P

PUS3 (pseudouridine synthase 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72401