UPF1 Chromosome 19
UPF1 RNA helicase and ATPase
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What This Gene Does
This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located only in the cytoplasm. When translation ends, it interacts with the protein that is a functional homolog of yeast Upf2p to trigger mRNA decapping. Use of multiple polyadenylation sites has been noted for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Gene Info
Gene Group
"UPF1 like RNA helicases|SURF complex|DECID complex"
Locus Type
gene with protein product
Location
19p13.11
Ensembl
ENSG00000005007
Associated Conditions (1)
Intellectual disability
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2055786277 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |