PUS3 (pseudouridine synthase 3)

2014-11-01 Affiliation

Identity

HGNC

PUS3

LOCATION

11q24.2

LOCUSID

83480

ALIAS

2610020J05Rik,FKSG32,MRT55,NEDMIGS

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000110060	ENST00000227474	Q9BZE2
ENSG00000110060	ENST00000529801	E9PNY6
ENSG00000110060	ENST00000530811	Q9BZE2
ENSG00000110060	ENST00000534158	E9PRI9
ENSG00000110060	ENST00000613398	A0A087WY59

Expression (GTEx)

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

Pathway	Source	External ID
Gene Expression	REACTOME	R-HSA-74160
tRNA processing	REACTOME	R-HSA-72306
tRNA modification in the nucleus and cytosol	REACTOME	R-HSA-6782315

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
27055666	2016	A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.	33

Citation

Dessen P

PUS3 (pseudouridine synthase 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72401/pus3