TSR1 (TSR1 ribosome maturation factor)

2014-11-01  

Identity

HGNC
LOCATION
17p13.3
LOCUSID
ALIAS
-

Other Information

Locus ID:

NCBI: 55720
MIM: 611214
HGNC: 25542
Ensembl: ENSG00000167721

Variants:

dbSNP: 55720
ClinVar: 55720
TCGA: ENSG00000167721
COSMIC: TSR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167721ENST00000301364Q2NL82
ENSG00000167721ENST00000571806I3L4T0
ENSG00000167721ENST00000575049I3L4E8
ENSG00000167721ENST00000576112I3L1Q5

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
rRNA processingREACTOMER-HSA-72312
Major pathway of rRNA processing in the nucleolus and cytosolREACTOMER-HSA-6791226
rRNA processing in the nucleus and cytosolREACTOMER-HSA-8868773

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
195843462009Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.93
208052442011Analysis of two human pre-ribosomal factors, bystin and hTsr1, highlights differences in evolution of ribosome biogenesis between yeast and mammals.27
312962872019Association of TSR1 Variants and Spontaneous Coronary Artery Dissection.2
321027732020Studies of congenital cataract-related TSR1 mutation and its expression in the lens.0

Citation

Dessen P

TSR1 (TSR1 ribosome maturation factor)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75255/tsr1