XRN1 Gene Summary [Human]
This gene encodes a member of the 5'-3' exonuclease family. The encoded protein may be involved in replication-dependent histone mRNA degradation, and interacts directly with the enhancer of mRNA-decapping protein 4. In addition to mRNA metabolism, a similar protein in yeast has been implicated in a variety of nuclear and cytoplasmic functions, including homologous recombination, meiosis, telomere maintenance, and microtubule assembly. Mutations in this gene are associated with osteosarcoma, suggesting that the encoded protein may also play a role in bone formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Details
| Type | Protein Coding |
| Official Symbol | XRN1 |
| Official Name | 5'-3' exoribonuclease 1 [Source:HGNC Symbol;Acc:HGNC:30654] |
| Ensembl ID | ENSG00000114127 |
| Bio databases IDs | |
| Aliases | 5'-3' exoribonuclease 1 |
| Synonyms | 5'-3' exonuclease, 5'-3' exoribonuclease 1, Dhm2, exo, LOC100911537, mXrn1, RGD1309713, SEP1 |
| Species | Human, Homo sapiens |
| Orthologies |
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 XRN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Xrn1 SH3-like domain
- XRN 5'-3' exonuclease N-terminus
- Exoribonuclease Xrn1 D1 domain
- double-stranded RNA binding motif (DSRM) superfamily
- 5'-3' exoribonuclease
- enzyme
- protein binding
- PIN (PilT N terminus) domain: Superfamily
- Exoribonuclease Xrn1 D2/D3 domain
- DNA binding
- RNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- asthma
- Hutchinson-Gilford progeria syndrome
regulates
- CSF2
- NEF
role in cell
- survival
- accumulation in
- replication in
- degradation in
- translation in
- 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.
- Cytoplasm
- GW body
- cytoplasmic mRNA processing body
- Plasma Membrane
- polysomes
- cytoplasmic aggregates
- cytosol
- perikaryon
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human XRN1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular response to cycloheximide
- histone mRNA catabolic process
- nuclear-transcribed mRNA catabolic process
- rRNA catabolic process
- nuclear mRNA surveillance
- response to testosterone stimulus
- negative regulation of telomere maintenance via telomerase
- negative regulation of translation
Cellular Component
Where in the cell the gene product is active
- dendrite
- nucleus
- membrane
- cytoplasmic mRNA processing body
- cytosol
- neuronal cell body
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- 5'-3' exoribonuclease activity
- protein binding
- RNA binding
- G-quadruplex DNA binding
- telomeric RNA binding
- G-quadruplex RNA binding