InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ESPN

Summary

InnateDB Protein

IDBP-87688.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ESPN

Protein Name

espin

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000367059

InnateDB Gene

IDBG-87686 (ESPN)

Protein Structure

UniProt Annotation

Function

Multifunctional actin-bundling protein. 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 (By similarity). {ECO:0000250}.

Subcellular Localization

Cytoplasm, cytoskeleton {ECO:0000250}. Cell projection, stereocilium {ECO:0000250}. Cell projection, microvillus {ECO:0000250}.

Disease Associations

Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006]: A form of non- syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB36 is characterized by prelingual, profound hearing loss, and vestibular areflexia in some patients. {ECO:0000269PubMed:15286153, ECO:0000269PubMed:15930085}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005515	protein binding
GO:0017124	SH3 domain binding
GO:0051015	actin filament binding

Biological Process

GO:0007605	sensory perception of sound
GO:0007626	locomotory behavior
GO:0030046	parallel actin filament bundle assembly
GO:0051017	actin filament bundle assembly
GO:0051491	positive regulation of filopodium assembly
GO:0051494	negative regulation of cytoskeleton organization

Cellular Component

GO:0005903	brush border
GO:0015629	actin cytoskeleton
GO:0031941	filamentous actin
GO:0032420	stereocilium
GO:0032421	stereocilium bundle
GO:0032426	stereocilium bundle tip