NVL Gene Summary [Human]
This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. Two encoded proteins, described as major and minor isoforms, have been localized to distinct regions of the nucleus. The largest encoded protein (major isoform) has been localized to the nucleolus and shown to participate in ribosome biosynthesis (PMID: 15469983, 16782053), while the minor isoform has been localized to the nucleoplasmin. [provided by RefSeq, Aug 2011]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | NVL |
| Official Name | nuclear VCP like [Source:HGNC Symbol;Acc:HGNC:8070] |
| Ensembl ID | ENSG00000143748 |
| Bio databases IDs | |
| Aliases | nuclear VCP like, Nuclear valosin-containing protein-like, nuclear VCP-like protein |
| Synonyms | 1200009I24RIK, nuclear VCP-like, Nuclear VCP-like protein NVLp.1 |
| 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 NVL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- nucleolin binding domain
- AAA ATPase domain
- ATP binding
- nuclear localization sequence
- protein binding
- RNA helicase
- AAA+ lid domain
- AAA domain (dynein-related subfamily)
- ATPase family associated with various cellular activities (AAA)
- ribonucleoprotein binding
- nucleolar targeting motif
- P-loop containing Nucleoside Triphosphate Hydrolases
- ATPases associated with a variety of cellular activities
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- acute myeloid leukemia
- breast cancer
- COVID-19
- glioma
- glioma formation
role in cell
- expression in
- growth
- proliferation
- apoptosis
- migration
- invasion by
- biogenesis
- maintenance
- epithelial-mesenchymal transition
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
- interchromatin granule cluster fractions
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NVL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of telomerase activity
- positive regulation of protein binding
- ribosomal large subunit biogenesis
- ribosome biogenesis
- rRNA processing
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear exosome (RNase complex)
- membrane
- nucleolus
- telomerase holoenzyme complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- protein binding
- RNA binding