FUZ Gene Summary [Human]
This gene encodes a planar cell polarity protein that is involved in ciliogenesis and directional cell movement. Knockout studies in mice exhibit neural tube defects and defective cilia, and mutations in this gene are associated with neural tube defects in humans. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]
Details
| Type | Protein Coding |
| Official Symbol | FUZ |
| Official Name | fuzzy planar cell polarity protein [Source:HGNC Symbol;Acc:HGNC:26219] |
| Ensembl ID | ENSG00000010361 |
| Bio databases IDs | |
| Aliases | fuzzy planar cell polarity protein, ciliogenesis and planar polarity effector complex subunit 3 |
| Synonyms | 2600013E07Rik, b2b1273Clo, CPLANE3, fuzzy planar cell polarity, fuzzy planar cell polarity protein, FY, NTD, RGD1310608 |
| 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 FUZ often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Third Longin domain of FUZ, MON1 and HPS1
- First Longin domain of FUZ, MON1 and HPS1
- protein binding
- protein fuzzy and homologs
- phosphatidylinositol binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- spinocerebellar ataxia type 3
- neural tube defect
- short-rib thoracic dysplasia type 6
- congenital malformation
- polydactyly
- congenital heart disease
- ciliopathy
role in cell
- formation
- phosphorylation in
- apoptosis
- activation in
- molecular cleavage in
- proliferation
- migration
- ciliogenesis
- assembly
- formation 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.
- Plasma Membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FUZ gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neural tube development
- cilium morphogenesis
- negative regulation of neural crest formation
- embryonic body morphogenesis
- negative regulation of cell proliferation
- protein transport
- positive regulation of flagellum assembly
- embryonic skeletal system morphogenesis
- regulation of smoothened signaling pathway
- negative regulation of canonical Wnt receptor signaling pathway
- vesicle-mediated transport
- hair follicle development
- intraflagellar transport
- neural tube closure
- establishment of planar polarity
- negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation
- negative regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- cytoskeleton
- extracellular vesicular exosome
- cytoplasm
- cilium
Molecular Function
What the gene product does at the molecular level
- protein binding