Espin (protein)

Espin, also known as autosomal recessive deafness type 36 protein or ectoplasmic specialization protein, is a protein that in humans is encoded by the ESPN gene.^[5] Espin is a microfilament binding protein.

ESPN
Identifiers
Aliases	ESPN, DFNB36, LP2654, Espin, USH1M
External IDs	OMIM: 606351; MGI: 1861630; HomoloGene: 23164; GeneCards: ESPN; OMA:ESPN - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p36.31 Start 6,424,776 bp[1] End 6,461,367 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 E2|4 82.9 cM Start 152,204,788 bp[2] End 152,236,828 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right testis left testis right uterine tube right lobe of liver mucosa of transverse colon skin of abdomen skin of leg mucosa of ileum olfactory zone of nasal mucosa human kidney Top expressed in interventricular septum intestinal villus yolk sac otic vesicle right kidney neural layer of retina ileum duodenum jejunum saccule More reference expression data BioGPS n/a
Gene ontology Molecular function SH3 domain binding actin binding actin filament binding Cellular component microvillus cell projection cytoskeleton stereocilium cytoplasm filamentous actin brush border stereocilium tip actin cytoskeleton stereocilium bundle Biological process hearing actin filament bundle assembly locomotory behavior parallel actin filament bundle assembly positive regulation of filopodium assembly negative regulation of cytoskeleton organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 83715 56226 Ensembl ENSG00000187017 ENSMUSG00000028943 UniProt Q5JYL1 Q9ET47 RefSeq (mRNA) NM_031475 NM_001367473 NM_001367474 NM_019585 NM_207687 NM_207688 NM_207689 NM_207690 NM_207691 RefSeq (protein) NP_113663 NP_001354402 NP_001354403 NP_062531 NP_997570 NP_997571 NP_997572 NP_997573 NP_997574 Location (UCSC) Chr 1: 6.42 – 6.46 Mb Chr 4: 152.2 – 152.24 Mb PubMed search [3] [4]
Wikidata
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Function

Espin is 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.^[5]

Clinical significance

Mutations in this gene are associated with autosomal recessive neurosensory deafness, autosomal dominant sensorineural deafness without vestibular involvement, and DFNB36.^[5]