Vhl Gene Summary [Mouse]
Predicted to enable several functions, including DNA-binding transcription factor binding activity; transcription elongation factor activity; and ubiquitin-like ligase-substrate adaptor activity. Involved in regulation of postsynapse organization and regulation protein catabolic process at postsynapse. Acts upstream of or within several processes, including camera-type eye morphogenesis; endocrine pancreas development; and regulation of apoptotic process. Located in cilium; cytoplasm; and nuclear lumen. Part of Cul2-RING ubiquitin ligase complex. Is active in glutamatergic synapse and postsynaptic density. Is expressed in several structures, including extraembryonic component; eye; genitourinary system; gut; and nervous system. Used to study familial erythrocytosis 2; sudden infant death syndrome; and von Hippel-Lindau disease. Human ortholog(s) of this gene implicated in several diseases, including pancreatic cancer (multiple); pheochromocytoma; polycythemia (multiple); renal cell carcinoma; and von Hippel-Lindau disease. Orthologous to human VHL (von Hippel-Lindau tumor suppressor). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Vhl |
| Official Name | von Hippel-Lindau tumor suppressor [Source:MGI Symbol;Acc:MGI:103223] |
| Ensembl ID | ENSMUSG00000033933 |
| Bio databases IDs | |
| Aliases | von Hippel-Lindau tumor suppressor |
| Synonyms | ECB2, HRCA1, pVHL, PVHL30, RCA1, VHL1, Vhlh, von Hippel-Lindau tumor suppressor, von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase, von Hippel-Lindau tumour suppressor, von Hippel-Lindau tumour suppressor, E3 ubiquitin protein ligase |
| Species | Mouse, Mus musculus |
| 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 mouse Vhl often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- elongin-binding domain
- transcription regulator
- Box motif
- protein kinase binding
- transcription co-repressor
- protein binding activity, bridging
- enzyme binding
- transcription factor binding
- protein binding
- alpha domain
- beta-interaction domain
- acidic domain
- VHL alpha domain
- transcriptional elongation regulator
- von Hippel-Landau (pVHL) tumor suppressor protein
- SOCS box
- elongin B/C binding domain
- VHL box domain
- binding protein
- VHL beta domain
- ubiquitin-protein transferase activity
- loop domain
Pathways
Biological processes and signaling networks where the Vhl gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- fibrosis
- metastasis
- neoplasia
- epithelial cancer
- epithelial neoplasia
- cancer
- tumorigenesis
- liver neoplasia
- adenoma formation
- benign neoplasia
role in cell
- expression in
- growth
- cell death
- adhesion
- autophagy by
- apoptosis
- activation in
- proliferation
- morphology
- phosphorylation in
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
- nuclear fraction
- glutaminergic synapse
- microtubule cytoskeleton
- organelle
- Cytoplasm
- cilia
- perinuclear region
- cellular membrane
- Plasma Membrane
- Endoplasmic Reticulum
- Mitochondria
- polysomes
- cytosol
- nucleoplasm
- nucleoli
- mitotic spindle
- postsynaptic density
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Vhl gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription elongation from RNA polymerase II promoter
- cell morphogenesis
- negative regulation of cell proliferation
- regulation of transcription, DNA-dependent
- positive regulation of cell differentiation
- regulation of cellular response to hypoxia
- negative regulation of JAK-STAT cascade
- negative regulation of transcription from RNA polymerase II promoter
- negative regulation of gene expression
- proteasomal ubiquitin-dependent protein catabolic process
- negative regulation of signal transduction
- positive regulation of transcription, DNA-dependent
- negative regulation of apoptotic process
- negative regulation of autophagy
- proteolysis
- regulation of gene expression
- cellular response to hypoxia
- protein stabilization
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitochondrion
- intracellular non-membrane-bounded organelle
- cytosol
- endoplasmic reticulum
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ubiquitin-protein ligase activity
- transcription elongation regulator activity
- protein binding
- binding, bridging
- enzyme binding