UPF1 (UPF1 RNA helicase and ATPase)

2008-07-01  

Identity

HGNC
LOCATION
19p13.11
LOCUSID
ALIAS
HUPF1,NORF1,RENT1,UTF,pNORF1,smg-2
FUSION GENES

Other Information

Locus ID:

NCBI: 5976
MIM: 601430
HGNC: 9962
Ensembl: ENSG00000005007

Variants:

dbSNP: 5976
ClinVar: 5976
TCGA: ENSG00000005007
COSMIC: UPF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000005007ENST00000262803Q92900
ENSG00000005007ENST00000262803A0A024R7L5
ENSG00000005007ENST00000599848Q92900
ENSG00000005007ENST00000599848A0A024R7L8

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
RNA transportKEGGko03013
RNA transportKEGGhsa03013
mRNA surveillance pathwayKEGGko03015
mRNA surveillance pathwayKEGGhsa03015
Exon junction complex (EJC)KEGGhsa_M00430
Exon junction complex (EJC)KEGGM00430
Gene ExpressionREACTOMER-HSA-74160
Nonsense-Mediated Decay (NMD)REACTOMER-HSA-927802
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)REACTOMER-HSA-975957
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)REACTOMER-HSA-975956

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
164525072006Binding of a novel SMG-1-Upf1-eRF1-eRF3 complex (SURF) to the exon junction complex triggers Upf1 phosphorylation and nonsense-mediated mRNA decay.245
124177152002Identification of a human decapping complex associated with hUpf proteins in nonsense-mediated decay.173
210298612010Upf1 senses 3'UTR length to potentiate mRNA decay.140
184232022008Upf1 phosphorylation triggers translational repression during nonsense-mediated mRNA decay.138
146365772003Phosphorylation of hUPF1 induces formation of mRNA surveillance complexes containing hSMG-5 and hSMG-7.131
180660792008NMD factors UPF2 and UPF3 bridge UPF1 to the exon junction complex and stimulate its RNA helicase activity.128
122287222002Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts.115
214193442011Molecular mechanisms for the RNA-dependent ATPase activity of Upf1 and its regulation by Upf2.110
211454602010Upf1 ATPase-dependent mRNP disassembly is required for completion of nonsense- mediated mRNA decay.101
215413682011A yeast model of FUS/TLS-dependent cytotoxicity.100

Citation

Dessen P

UPF1 (UPF1 RNA helicase and ATPase)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50179/upf1