PUS10 (pseudouridine synthase 10)

2018-07-01  

Identity

HGNC
LOCATION
2p16.1
LOCUSID
ALIAS
CCDC139,DOBI,Hup10
FUSION GENES

Other Information

Locus ID:

NCBI: 150962
MIM: 612787
HGNC: 26505
Ensembl: ENSG00000162927

Variants:

dbSNP: 150962
ClinVar: 150962
TCGA: ENSG00000162927
COSMIC: PUS10

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162927ENST00000316752Q3MIT2
ENSG00000162927ENST00000398658A8MUL8
ENSG00000162927ENST00000407787Q3MIT2
ENSG00000162927ENST00000421319C9JNL8
ENSG00000162927ENST00000430495A8MUL8

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
190682162009Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.53
179006152007Crystal structure of human Pus10, a novel pseudouridine synthase.39
204680712010Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts.17
210721872010Evidence for significant overlap between common risk variants for Crohn's disease and ankylosing spondylitis.12
197732792009Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.6
197125882009DOBI is cleaved by caspases during TRAIL-induced apoptotic cell death.3
289811012017Reciprocal amplification of caspase-3 activity by nuclear export of a putative human RNA-modifying protein, PUS10 during TRAIL-induced apoptosis.3
318192702020Differential roles of human PUS10 in miRNA processing and tRNA pseudouridylation.2

Citation

Dessen P

PUS10 (pseudouridine synthase 10)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57585/pus10-(pseudouridine-synthase-10)