Back to discover

UPF1

Gene

UPF1 RNA helicase and ATPase

HGNCHGNC:9962EnsemblENSG00000005007NCBI Gene5976
Locus: gene with protein productLocation: 19p13.11

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asRENT1 · HUPF1 · NORF1 · KIAA0221 · pNORF1 · smg-2
View full nomenclature history (11)
Previous symbolsRENT1
Alias symbolsHUPF1, NORF1, KIAA0221, pNORF1, smg-2
Previous namesregulator of nonsense transcripts 1, UPF1 regulator of nonsense transcripts homolog (yeast), UPF1, RNA helicase and ATPase
Alias namesUP Frameshift 1, smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Neurodevelopmental Disorders
Complex neurodevelopmental disorder
Gastritis

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

UPF1 like RNA helicasesSURF complexDECID complex

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.