U2AF1 (U2 small nuclear RNA auxiliary factor 1)

2007-02-01  

Identity

HGNC
LOCATION
21q22.3
LOCUSID
ALIAS
FP793,RN,RNU2AF1,U2AF35,U2AFBP
FUSION GENES

Other Information

Locus ID:

NCBI: 7307
MIM: 191317
HGNC: 12453
Ensembl: ENSG00000160201

Variants:

dbSNP: 7307
ClinVar: 7307
TCGA: ENSG00000160201
COSMIC: U2AF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160201ENST00000291552Q01081
ENSG00000160201ENST00000380276Q01081
ENSG00000160201ENST00000398137Q01081
ENSG00000160201ENST00000459639Q01081
ENSG00000160201ENST00000464750Q01081
ENSG00000160201ENST00000486519A0A1B0GW87

Expression (GTEx)

0
1
2

Pathways

PathwaySourceExternal ID
ShigellosisKEGGhsa05131
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Transcription TerminationREACTOMER-HSA-73856
Cleavage of Growing Transcript in the Termination RegionREACTOMER-HSA-109688
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163
mRNA 3'-end processingREACTOMER-HSA-72187
Transport of Mature Transcript to CytoplasmREACTOMER-HSA-72202
Transport of Mature mRNA derived from an Intron-Containing TranscriptREACTOMER-HSA-159236

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
221585382011Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes.186
223234802012Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis.146
223892532012Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes.124
252675262015U2AF1 mutations alter splice site recognition in hematological malignancies.92
168095432006Intron removal requires proofreading of U2AF/3' splice site recognition by DEK.74
244980852014A pan-cancer analysis of transcriptome changes associated with somatic mutations in U2AF1 reveals commonly altered splicing events.65
237757172013Patterns of missplicing due to somatic U2AF1 mutations in myeloid neoplasms.63
253267052014Mechanisms for U2AF to define 3' splice sites and regulate alternative splicing in the human genome.60
252713742014Kinetic competition during the transcription cycle results in stochastic RNA processing.53
223253502012hnRNP A1 proofreads 3' splice site recognition by U2AF.46

Citation

Dessen P

U2AF1 (U2 small nuclear RNA auxiliary factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45742/u2af1