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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
General
ankyrin repeat domain protein (ANKRD)
cytoskeletal protein
Properties
SIZE: entity length = 854 aa
MW = 92 kD
COMPARTMENT: cytoplasm
MOTIF: ankyrin repeat
NAME: ankyrin repeat
SITE: 1-31
ankyrin repeat
NAME: ankyrin repeat
SITE: 35-64
ankyrin repeat
NAME: ankyrin repeat
SITE: 69-99
ankyrin repeat
NAME: ankyrin repeat
SITE: 103-133
ankyrin repeat
NAME: ankyrin repeat
SITE: 137-167
ankyrin repeat
NAME: ankyrin repeat
SITE: 171-201
ankyrin repeat
NAME: ankyrin repeat
SITE: 205-235
ankyrin repeat
NAME: ankyrin repeat
SITE: 239-268
ankyrin repeat
NAME: ankyrin repeat
SITE: 271-300
proline-rich region
SITE: 428-730
MOTIF: proline residue (SEVERAL)
WH2 {651-668}
coiled coil {756-830}
MOTIF: glutamate-rich region {768-825}
MOTIF: glutamate residue (SEVERAL)
Database Correlations
OMIM 606351
MORBIDMAP 606351
UniProt B1AK53
References
UniProt :accession B1AK53