UPF1 Chromosome 19

UPF1 RNA helicase and ATPase
1 variant 1 Health Risk

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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
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