ESPN Gene Summary [Human]
This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009]
Details
| Type | Protein Coding |
| Official Symbol | ESPN |
| Official Name | espin [Source:HGNC Symbol;Acc:HGNC:13281] |
| Ensembl ID | ENSG00000187017 |
| Bio databases IDs | |
| Aliases | espin |
| Synonyms | DFNB36, Espin, ESPN1, Je, LP2654, USH1M |
| 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 ESPN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- actin filament binding
- Ankyrin repeats (many copies)
- F-actin binding domain
- Ankyrin repeats (3 copies)
- protein binding
- zDHHC ankyrin repeat binding domain
- SH3-domain binding
- WH2 motif
- Ankyrin repeat
- ankyrin repeats
- actin bundling module
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal dominant deafness without vestibular involvement
- autosomal recessive deafness type 36
- Usher syndrome type 1M
- multiple sclerosis
- familial nonsyndromic hearing impairment
- autosomal recessive deafness without vestibular involvement type 36
- hearing loss
- autosomal recessive deafness
- Usher syndrome type 1
- autosomal recessive deafness with vestibular involvement type 36
role in cell
- length
- assembly
- formation
- elongation
- organization
- elongation 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.
- Cytoplasm
- actin cytoskeleton
- actin filaments
- cytosol
- stereocilia
- stereocilia bundles
- actin stress fibers
- brush border
- microvilli
- filopodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ESPN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sound
- microvillar actin bundle assembly
- actin filament bundle assembly
Cellular Component
Where in the cell the gene product is active
- brush border
- cytoplasm
- microvillus
- stereocilium
- filamentous actin
- stereocilium bundle tip
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- SH3 domain binding