VAPB Gene Summary [Human]
The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | VAPB |
| Official Name | VAMP associated protein B and C [Source:HGNC Symbol;Acc:HGNC:12649] |
| Ensembl ID | ENSG00000124164 |
| Bio databases IDs | |
| Aliases | VAMP associated protein B and C |
| Synonyms | ALS8, D2Abb2e, Vamp33b, VAMP associated protein B and C, VAMP-ASSOCIATED protein of 33 KDA, VAMP-B, VAP33b, vesicle-associated membrane protein, associated protein B and C |
| 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 VAPB often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- beta-tubulin binding
- microtubule binding
- cytoplasmic domain
- transmembrane domain
- enzyme binding
- protein homodimerization
- coiled-coil domain
- protein domain specific binding
- protein binding
- MSP (Major sperm protein) domain
- protein heterodimerization
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- tremor
- organismal death
- hypotonia
- amyotrophic lateral sclerosis
- amyotrophic lateral sclerosis 8
- Waldenström macroglobulinemia
- spinal muscular atrophy proximal adult dominant
- motor neuron disease
- autosomal dominant amyotrophic lateral sclerosis
role in cell
- formation in
- expression in
- cell death
- proliferation
- differentiation
- attachment
- organization
- restructuring
- restructuring in
- fragmentation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- pH resistant lipid raft fraction
- glutaminergic synapse
- endoplasmic reticulum mitochondria contact site
- Cytoplasm
- presynaptic regions
- postsynaptic region
- cellular membrane
- Nucleus
- Golgi Apparatus
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- dendrite initial segments
- cytoplasmic vesicles
- peroxisomes
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human VAPB gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ER to Golgi vesicle-mediated transport
- endoplasmic reticulum membrane organization
- COPII-coated vesicle budding
- endoplasmic reticulum unfolded protein response
- positive regulation of viral genome replication
- cholesterol transport
- endoplasmic reticulum organization
- cellular calcium ion homeostasis
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- cytoplasm
- Golgi apparatus
- endoplasmic reticulum
- endoplasmic reticulum exit site
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein homodimerization activity
- protein heterodimerization activity
- cadherin binding
- beta-tubulin binding
- FFAT motif binding
- microtubule binding
- enzyme binding