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FLASH GENE

Symbol

ESPN

contributors: mct - updated : 29-08-2015

HGNC name	espin
HGNC id	13281

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DFNA26 neurosensory deafness 26 DFNB36 neurosensory deafness 36
Location	1p36.31      Physical location : 6.484.847 - 6.521.003
Synonym symbol(s)	ESPIN, DKFZp434A196, LP2654

DNA

TYPE	functioning gene
STRUCTURE	36.17 kb     13 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_031475 13 - 3531 NP_113663 91.3 854 testis, Sertoli cell-spermatid junctions (ectoplasmic specializations) 2000 10975527 variant 1 large isoform major actin bundling protein of the Sertoli cell-spermatid ectopasmic specialization variant 2 small isoform - splicing - 30 253 (microvilli brush border) 2000 10975527 terminal forked homology and two actin binding sites at the C terminus

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Hearing/Equilibrium ear inner cochlea     Rattus norvegicus Nervous ganglia sensory ganglia       Rattus norvegicus Reproductive female system ovary         male system male genital tract epididymis     Rattus norvegicus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial sensory stato-auditory     Rattus norvegicus

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium stereocilia Homo sapiens Reproductive Sertoli cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	eight ankyrin-like repeats in the N terminal, and a additional actin-filament-binding site present in the extended amino-termini of large espin isoforms autoinhibited by binding between the ankyrin repeat domain and a peptide near the actin-binding site
	an actin-monomer-binding motif WH2
	a P loop, two proline-rich streches by an actin-binding site
	a domain of homology with the repetitive motif of trichohyalin
	a C terminus with a forked Drosophila homology domain (villin headpiece domain)

HOMOLOGY

interspecies	homolog to rattus espn
	ortholog to murine Espn

Homologene

FAMILY

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton,microfilament
text	F-actin rich ectoplasmic specializations at junctional plaques of attachment for elongated spermatides and neighboring Sertoli cells

basic FUNCTION	involved in linking actin filaments to each other or to membranes
	actin bundling protein playing a key role in the organization and function of the ectoplasmic specialization
	involved in the elongation or organisation of the hair cell stereocilia
	having ability to assemble a large actin bundle when targeted to a specific subcellular location
	Ca(2+)-resistant actin-bundling protein that are enriched in hair cell stereocilia and sensory cell microvilli
	MYO3A and ESPN have been shown to influence the length of mechanosensory stereocilia 8)
	required for the growth of hair cell stereocilia
	in contrast to other actin-bundling proteins such as ESPN, USH1C or EPS8, PLS1 is dispensable for the initial formation of stereocilia

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

reproduction/sex

text

hearing

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	ESPN colocalizes with MYO3A at stereocilia tips and interacts with a unique conserved domain of MYO3A 8)
	like MYO3A, MYO3B can elongate filopodia by transporting ESPN to the polymerizing end of actin filaments

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DFNB36 , DFNA26

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

deef jerker mice, Eps -/-