PUS1 (pseudouridine synthase 1)

2014-11-01  

Identity

HGNC
LOCATION
12q24.33
LOCUSID
ALIAS
MLASA1
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
151081222004Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).92
170566372007Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).47
157720742005Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation.43
197313222010Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.41
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.12
186480682008Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1.9
221025712012Pseudouridine synthase 1: a site-specific synthase without strict sequence recognition requirements.9
314779162019mRNA structure determines modification by pseudouridine synthase 1.7

Citation

Dessen P

PUS1 (pseudouridine synthase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72399/pus1