Version 5.4
Homo sapiens Protein: ESPN
Summary
InnateDB Protein IDBP-365426.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ESPN
Protein Name espin
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000399239
InnateDB Gene IDBG-87686 (ESPN)
Protein Structure
UniProt Annotation
Function Multifunctional actin-bundling protein. 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 (By similarity). {ECO:0000250}.
Subcellular Localization Cytoplasm, cytoskeleton {ECO:0000250}. Cell projection, stereocilium {ECO:0000250}. Cell projection, microvillus {ECO:0000250}.
Disease Associations Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006]: A form of non- syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB36 is characterized by prelingual, profound hearing loss, and vestibular areflexia in some patients. {ECO:0000269PubMed:15286153, ECO:0000269PubMed:15930085}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0017124 SH3 domain binding
GO:0051015 actin filament binding
Biological Process
GO:0007605 sensory perception of sound
Cellular Component
GO:0005903 brush border
GO:0031941 filamentous actin
GO:0032420 stereocilium
Protein Structure and Domains
PDB ID
InterPro IPR003124 WH2 domain
PFAM PF02205
PRINTS
PIRSF
SMART SM00246
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt B1AK53
PhosphoSite PhosphoSite-B1AK53
TrEMBL K7EMB7
UniProt Splice Variant
Entrez Gene 83715
UniGene Hs.741791
RefSeq
HUGO HGNC:13281
OMIM 606351
CCDS
HPRD 06962
IMGT
EMBL AF134401 AL031848 AL136880 AL158217 AY203958 CH471130
GenPept AAD24480 AAP34481 CAB66814 CAI19773 CAI22163 EAW71537

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca