UPF3A (UPF3A regulator of nonsense mediated mRNA decay)

2014-08-01  

Identity

HGNC
LOCATION
13q34
LOCUSID
ALIAS
HUPF3A,RENT3A,UPF3
FUSION GENES

Other Information

Locus ID:

NCBI: 65110
MIM: 605530
HGNC: 20332
Ensembl: ENSG00000169062

Variants:

dbSNP: 65110
ClinVar: 65110
TCGA: ENSG00000169062
COSMIC: UPF3A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169062ENST00000351487Q9H1J1
ENSG00000169062ENST00000375299Q9H1J1
ENSG00000169062ENST00000492270A0A087WZ33

Expression (GTEx)

0
50
100
150

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
368073822023Genetic compensation response could exist in colorectal cancer: UPF3A upregulates the oncogenic homologue gene SRSF3 expression corresponding to SRSF6 to promote colorectal cancer metastasis.2
368073822023Genetic compensation response could exist in colorectal cancer: UPF3A upregulates the oncogenic homologue gene SRSF3 expression corresponding to SRSF6 to promote colorectal cancer metastasis.2
354510842022Human UPF3A and UPF3B enable fault-tolerant activation of nonsense-mediated mRNA decay.12
354511022022Mammalian UPF3A and UPF3B can activate nonsense-mediated mRNA decay independently of their exon junction complex binding.16
356409742022Structures of nonsense-mediated mRNA decay factors UPF3B and UPF3A in complex with UPF2 reveal molecular basis for competitive binding and for neurodevelopmental disorder-causing mutation.6
354510842022Human UPF3A and UPF3B enable fault-tolerant activation of nonsense-mediated mRNA decay.12
354511022022Mammalian UPF3A and UPF3B can activate nonsense-mediated mRNA decay independently of their exon junction complex binding.16
356409742022Structures of nonsense-mediated mRNA decay factors UPF3B and UPF3A in complex with UPF2 reveal molecular basis for competitive binding and for neurodevelopmental disorder-causing mutation.6
327180592020(Phospho)proteomic Profiling of Microsatellite Unstable CRC Cells Reveals Alterations in Nuclear Signaling and Cholesterol Metabolism Caused by Frameshift Mutation of NMD Regulator UPF3A.2
327180592020(Phospho)proteomic Profiling of Microsatellite Unstable CRC Cells Reveals Alterations in Nuclear Signaling and Cholesterol Metabolism Caused by Frameshift Mutation of NMD Regulator UPF3A.2
309771182019U2-related proteins CHERP and SR140 contribute to colorectal tumorigenesis via alternative splicing regulation.11
309771182019U2-related proteins CHERP and SR140 contribute to colorectal tumorigenesis via alternative splicing regulation.11
195030782009A UPF3-mediated regulatory switch that maintains RNA surveillance.67
195030782009A UPF3-mediated regulatory switch that maintains RNA surveillance.67
178039422007Communication with the exon-junction complex and activation of nonsense-mediated decay by human Upf proteins occur in the cytoplasm.46

Citation

Dessen P

UPF3A (UPF3A regulator of nonsense mediated mRNA decay)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54757/upf3a-(upf3a-regulator-of-nonsense-mediated-mrna-decay)