UTP25 (UTP25 small subunit processor component)

2017-10-01  

Identity

HGNC
LOCATION
1q32.2
LOCUSID
ALIAS
C1orf107,DEF,DIEXF,DJ434O14.5

Other Information

Locus ID:

NCBI: 27042
HGNC: 28440
Ensembl: ENSG00000117597

Variants:

dbSNP: 27042
ClinVar: 27042
TCGA: ENSG00000117597
COSMIC: UTP25

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117597ENST00000457820H7C2R4
ENSG00000117597ENST00000491415Q68CQ4

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
rRNA processingREACTOMER-HSA-72312
Major pathway of rRNA processing in the nucleolus and cytosolREACTOMER-HSA-6791226
rRNA modification in the nucleus and cytosolREACTOMER-HSA-6790901
rRNA processing in the nucleus and cytosolREACTOMER-HSA-8868773

References

Pubmed IDYearTitleCitations
163225602005Loss of function of def selectively up-regulates Delta113p53 expression to arrest expansion growth of digestive organs in zebrafish.87
250079452014MiR-195 affects cell migration and cell proliferation by down-regulating DIEXF in Hirschsprung's disease.6
282639722017The pre-rRNA processing factor DEF is rate limiting for the pathogenesis of MYCN-driven neuroblastoma.3

Citation

Dessen P

UTP25 (UTP25 small subunit processor component)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57113/utp25