espin (ectoplasmic specialization protein, autosomal recessive deafness type 36 protein, ESPN, DFNB36, LP2654)

Function

• multifunctional actin-bundling protein
• plays a major role in regulating the organization, dimensions, dynamics & signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory & chemosensory cells (putative)
• binds F-actin in a Ca+2- resistant fashion (putative)
• interacts (via N-terminal) with BAIAP2 (via SH3-domain) (putative)
• interacts with PFN2

Structure

• monomer (putative).
• WH2-domain binds actin monomer & mediates actin
• bundle assembly (putative)
• contains 9 ANK repeats
• contains 1 WH2 domain

Compartment

• cytoplasm, cytoskeleton (putative)
• cell projection, stereocilium (putative)
• cell projection, microvillus (putative)

Alternative splicing

named isoforms=2

Pathology

• defects in ESPN are the cause of autosomal recessive non-syndromic sensorineural deafness type 36
• defects in ESPN are the cause of autosomal dominant non-syndromic sensorineural deafness without vestibular involvement

More general terms

• ankyrin repeat domain protein (ANKRD)
• cytoskeletal protein

Database

• OMIM: https://mirror.omim.org/entry/606351
• UniProt: http://www.uniprot.org/uniprot/B1AK53.html