PUF60 (poly(U) binding splicing factor 60)

2012-11-01  

Identity

HGNC
LOCATION
8q24.3
LOCUSID
ALIAS
FIR,RoBPI,SIAHBP1,VRJS
FUSION GENES

Other Information

Locus ID:

NCBI: 22827
MIM: 604819
HGNC: 17042
Ensembl: ENSG00000179950

Variants:

dbSNP: 22827
ClinVar: 22827
TCGA: ENSG00000179950
COSMIC: PUF60

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179950ENST00000313352Q9UHX1
ENSG00000179950ENST00000349157Q9UHX1
ENSG00000179950ENST00000453551Q9UHX1
ENSG00000179950ENST00000456095Q9UHX1
ENSG00000179950ENST00000526459E9PQ56
ENSG00000179950ENST00000526683Q9UHX1
ENSG00000179950ENST00000527197Q9UHX1
ENSG00000179950ENST00000527744H0YEM1
ENSG00000179950ENST00000529999E9PN18
ENSG00000179950ENST00000531897E9PMU7
ENSG00000179950ENST00000532884H0YCP8
ENSG00000179950ENST00000533162E9PL19

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
166282152006The FUSE/FBP/FIR/TFIIH system is a molecular machine programming a pulse of c-myc expression.64
175797122007Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65).50
189740542009Dimerization and protein binding specificity of the U2AF homology motif of the splicing factor Puf60.29
241401122013SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.27
204204262010Quantitative characterization of the interactions among c-myc transcriptional regulators FUSE, FBP, and FIR.20
248248482014Overexpression of far upstream element (FUSE) binding protein (FBP)-interacting repressor (FIR) supports growth of hepatocellular carcinoma.15
231138932013SAP155-mediated c-myc suppressor far-upstream element-binding protein-interacting repressor splicing variants are activated in colon cancer tissues.13
248112212014Alternative splicing of FBP-interacting repressor coordinates c-Myc, P27Kip1/cyclinE and Ku86/XRCC5 expression as a molecular sensor for bleomycin-induced DNA damage pathway.13
261778622015Concomitant expression of far upstream element (FUSE) binding protein (FBP) interacting repressor (FIR) and its splice variants induce migration and invasion of non-small cell lung cancer (NSCLC) cells.12
224964612012SAP155-mediated splicing of FUSE-binding protein-interacting repressor serves as a molecular switch for c-myc gene expression.10

Citation

Dessen P

PUF60 (poly(U) binding splicing factor 60)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/52933/gc-puf60