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
321027732020Studies of congenital cataract-related TSR1 mutation and its expression in the lens.1
321027732020Studies of congenital cataract-related TSR1 mutation and its expression in the lens.1
312962872019Association of TSR1 Variants and Spontaneous Coronary Artery Dissection.17
312962872019Association of TSR1 Variants and Spontaneous Coronary Artery Dissection.17
208052442011Analysis of two human pre-ribosomal factors, bystin and hTsr1, highlights differences in evolution of ribosome biogenesis between yeast and mammals.31
208052442011Analysis of two human pre-ribosomal factors, bystin and hTsr1, highlights differences in evolution of ribosome biogenesis between yeast and mammals.31
195843462009Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.120
195843462009Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.120

Citation

Dessen P

TSR1 (TSR1 ribosome maturation factor)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75255/tsr1-(tsr1-ribosome-maturation-factor)