UPF3A 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. The encoded protein is one of two functional homologs to yeast Upf3p. 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 binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome 13. Several splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

Details

Type
Protein Coding
Official Symbol
UPF3A
Official Name
UPF3A regulator of nonsense mediated mRNA decay [Source:HGNC Symbol;Acc:HGNC:20332]
Ensembl ID
ENSG00000169062
Bio databases IDs NCBI: 65110 Ensembl: ENSG00000169062
Aliases UPF3A regulator of nonsense mediated mRNA decay
Synonyms 2600001C03Rik, 4930546M19Rik, HUPF3A, RENT3A, UPF3, UPF3A regulator of nonsense mediated mRNA decay, UPF3A, regulator of nonsense mediated mRNA decay, UPF3 regulator of nonsense transcripts homolog A (yeast)
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 UPF3A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • RNA recognition motif (RRM) superfamily
  • mRNA binding
  • RNA recognition motif
  • protein binding
  • Smg-4/UPF3 family
  • telomeric DNA binding
  • transporter

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • schizophrenia
  • cardiovascular disorder
  • nodular sclerosis classical Hodgkin lymphoma
  • nodular sclerosis Hodgkin disease
  • familial amyotrophic lateral sclerosis
regulated by
regulates

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
  • intracellular membrane-bounded organelle
  • Cytoplasm
  • Plasma Membrane
  • cytosol
  • nucleoplasm
  • neurites

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human UPF3A gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • positive regulation of translation
  • nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
  • in utero embryonic development
  • spermatogenesis
  • negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
  • mRNA transport

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • exon-exon junction complex
  • cytoplasm
  • intracellular membrane-bounded organelle
  • cytosol
  • nucleolus
  • neuron projection
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • telomeric DNA binding
  • mRNA binding

Gene-Specific Assays for Results You Can Trust

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