PUS1 (pseudouridine synthase 1)

2014-11-01  

Identity

HGNC
PUS1
LOCATION
12q24.33
LOCUSID
80324
ALIAS
MLASA1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 80324
MIM: 608109
HGNC: 15508
Ensembl: ENSG00000177192

Variants:

dbSNP: 80324
ClinVar: 80324
TCGA: ENSG00000177192
COSMIC: PUS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177192ENST00000322060G8JLB3
ENSG00000177192ENST00000376649Q9Y606
ENSG00000177192ENST00000376649E5KMT5
ENSG00000177192ENST00000443358Q9Y606
ENSG00000177192ENST00000443358E5KMT6
ENSG00000177192ENST00000456665F8W9U5
ENSG00000177192ENST00000535067F5H168
ENSG00000177192ENST00000537484F5GXL3
ENSG00000177192ENST00000538037F5GY32
ENSG00000177192ENST00000542167F5H1S9
ENSG00000177192ENST00000544213F5H1B2

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
tRNA modification in the mitochondrionREACTOMER-HSA-6787450

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
350513502022Pseudouridine synthases modify human pre-mRNA co-transcriptionally and affect pre-mRNA processing.55
350513502022Pseudouridine synthases modify human pre-mRNA co-transcriptionally and affect pre-mRNA processing.55
314779162019mRNA structure determines modification by pseudouridine synthase 1.61
314779162019mRNA structure determines modification by pseudouridine synthase 1.61
221025712012Pseudouridine synthase 1: a site-specific synthase without strict sequence recognition requirements.10
229987472012A small RNA derived from RNA coactivator SRA blocks steroid receptor signaling via inhibition of Pus1p-mediated pseudouridylation of SRA: evidence of a novel RNA binding domain in the N-terminus of steroid receptors.13
221025712012Pseudouridine synthase 1: a site-specific synthase without strict sequence recognition requirements.10
229987472012A small RNA derived from RNA coactivator SRA blocks steroid receptor signaling via inhibition of Pus1p-mediated pseudouridylation of SRA: evidence of a novel RNA binding domain in the N-terminus of steroid receptors.13
197313222010Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.56
197313222010Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.56
186480682008Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1.13
186480682008Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1.13
170566372007Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).64
170566372007Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).64
157720742005Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation.56

Citation

Dessen P

PUS1 (pseudouridine synthase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72399