UPF1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
UPF1
Official Name
UPF1 RNA helicase and ATPase [Source:HGNC Symbol;Acc:HGNC:9962]
Ensembl ID
ENSG00000005007
Bio databases IDs NCBI: 5976 Ensembl: ENSG00000005007
Aliases UPF1 RNA helicase and ATPase, UP Frameshift 1, smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)
Synonyms B430202H16RIK, HUPF1, NORF1, NORP1 (regulator of nonsense), PNORF-1, RENT1, smg-2, UPF1 RNA helicase and ATPase, UPF1, RNA helicase and ATPase, Upflp, UTF
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human UPF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • ZBD_UPF1_nv_SF1_Hel-like
  • DNA helicase, putative
  • chromatin binding
  • enzyme
  • protein binding
  • ATPase
  • RNA helicase
  • telomeric DNA binding
  • DNA helicase
  • AAA domain
  • RNA binding
  • helicase domain
  • binding protein
  • RNA helicase UPF1, 1B domain
  • 1B_UPF1_nv_SF1_Hel-like
  • N-terminal helicase domain of the DEAD-box helicase superfamily
  • RNA helicase (UPF2 interacting domain)
  • P-loop containing Nucleoside Triphosphate Hydrolases

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • latent tuberculosis
  • schizophrenia
  • familial colorectal cancer
  • adenosquamous pancreatic carcinoma
  • adenosquamous pancreatic cancer
  • mental retardation
  • familial amyotrophic lateral sclerosis
regulated by
regulates
role in cell
  • response
  • survival
  • expression in
  • number
  • proliferation
  • binding in
  • quantity
  • apoptosis
  • invasion by
  • cell survival

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • polyribosome fractions
  • GW body
  • Cytoplasm
  • cytosol
  • spliceosomes
  • nucleoplasm
  • telomeres
  • chromatin

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human UPF1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • DNA repair
  • positive regulation of mRNA catabolic process
  • 3'-UTR-mediated mRNA destabilization
  • DNA replication
  • nuclear-transcribed mRNA catabolic process
  • mRNA export from nucleus
  • regulation of translational termination
  • nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
  • cellular response to lipopolysaccharide
  • histone mRNA catabolic process
  • DNA duplex unwinding
  • cellular response to interleukin-1
  • telomere maintenance via semi-conservative replication
  • regulation of telomere maintenance

Cellular Component

Where in the cell the gene product is active
  • chromosome, telomeric region
  • nucleus
  • exon-exon junction complex
  • perinuclear region of cytoplasm
  • cytoplasm
  • cytosol
  • supraspliceosomal complex
  • cytoplasmic mRNA processing body
  • chromatin
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • ATPase activity
  • ATP binding
  • zinc ion binding
  • RNA binding
  • protein binding
  • RNA helicase activity
  • telomeric DNA binding
  • double-stranded DNA-dependent ATP-dependent DNA helicase activity
  • helicase activity
  • chromatin binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.