ESPN

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]

Description

Espin

Tissue specificity

Tissue enhanced (liver, retina, testis)

Subcell location

Vesicles

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (6424776 - 6461367)

Ensembl ID

ENSG00000187017  (ver. 103.38)

Orthologs

Mouse Espn: ENSMUSG00000028943

UniProt

B1AK53

neXtProt

NX_B1AK53

Human splice variants
Mouse splice variants

Protein structure