VANGL1 Gene Summary [Human]
This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
Details
| Type | Protein Coding |
| Official Symbol | VANGL1 |
| Official Name | VANGL planar cell polarity protein 1 [Source:HGNC Symbol;Acc:HGNC:15512] |
| Ensembl ID | ENSG00000173218 |
| Bio databases IDs | |
| Aliases | VANGL planar cell polarity protein 1 |
| Synonyms | KITENIN, LOC683383, LPP2, STB2, Stbm, STBM2, VANGL, VANGL planar cell polarity 1, VANGL planar cell polarity protein 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 VANGL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Strabismus protein
- cytoplasmic domain
- protein binding
Pathways
Biological processes and signaling networks where the VANGL1 gene in human 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
- neural tube defect
- caudal dysplasia sequence
role in cell
- expression in
- growth
- binding
- tumorigenicity
- binding in
- invasion by
- 5-fluorouracil resistance
- invasion
- healing
- oxaliplatin resistance
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
- cell periphery
- cellular membrane
- Plasma Membrane
- lateral plasma membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human VANGL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- pigmentation
- Wnt receptor signaling pathway, planar cell polarity pathway
Cellular Component
Where in the cell the gene product is active
- lateral plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding